AOP - Ateliers d'Ophtalmologie Pratique

Malattia leventinese: about 2 cases

Objectives: Here we report two cases of patients with Malattia Leventinese.

Introduction: Doyne honeycomb retinal dystrophy (DHRD)/malattia leventinese (ML) is an autosomal dominant, progressive retinal disorder characterized by early-onset drusenoid deposits involving the posterior pole and the peripapillary area. These drusen appear in early adulthood, are radially distributed, and with age, increase in size and number

Materials / method: Two patients with Malattia Leventinese underwent ophtalmological Examination including color fundus photography and Spectral Domain Optical CoherenceTomography

Results: We report the case of a 61-year-old woman presented to our department with moderate loss of visual acuity and progressive alteration of night vision. On both eyes, ophthalmological findings included massive hard drusen in the posterior fundus and around the edge of the optic disc . Optical coherence tomography scan showed extensive hyperreflective thickening beneath the RPE accompanied by wavy uplift.The second patient was a 56-year-old man, presented to our department for alteration of night vision and fundus examination revealed drusen around the disc.

Conclusion: In its early stages, the disease appears as massive drusens, while the visual acuity of the patients would decreasee with the lesion progress. In the later stages, the majority of patients show loss of central vision, which was associated with the development of extensive pigmentary changes and geographic atrophy or choroidal neovascularization in the region of the confluent macular drusen. No general recommendations regarding neither surgical nor medical treatment in DHRD/ML exist.

Disclosures

Did you receive any funding to support your research for this TOPIC?
No

Were you provided with any honoraria, payment or other compensation for your work on this study?
No

Do you have any financial relationship with any entity which may closely compete with the medications, materials or instruments covered by your study?
No

Do you own or have you applied for any patents in conjunction with the instruments, medications or materials discussed in your study?
No

This work was not supported by any direct or non direct funding. It is under the author's own responsability

Third cranial nerve palsy revealing internal carotid artery aneurysm: about a case

Objectives: Here we report an illustrative case of intracavernous internal carotid artery aneurysm with isolated oculomotor palsy

Introduction: Oculomotor nerve palsy can result from lesions anywhere along the path between the oculomotor nucleus in the midbrain and the extraocular muscles within the orbit.

Materials / method: A patient with oculomotor nerve palsy underwent ophtalmological examination, cerebral magnetic resonance imaging and magnetic resonance angiography

Results: We report the case of a 85-year-old man with a history of hypertension and diabetes presented to the hospital with drooping of the right eyelid and headaches for 3 days. There was no history of fever, ocular trauma, or head injury. On ophthalmological examination, ptosis in the right eye was complete; the pupil was dilated and extraocular movements in the right eye were limited in all directions except abduction . Dilated fundus examination was normal in both eyes. Emergency cerebral magnetic resonance imaging and magnetic resonance angiography was performed.

Conclusion: To differentiate isolated or non-isolated third nerve palsy and to evaluate whether the pupil is involved (pupil-involving or pupil-sparing) is important to do differential diagnosis. The most common and feared cause of an isolated pupil-involving acute third nerve palsy is compression by an enlarging intracranial aneurysm. Cranial contrast enhanced magnetic resonance imaging with angiography is the mandatory imaging study in this condition.

Disclosures

Did you receive any funding to support your research for this TOPIC?
No

Were you provided with any honoraria, payment or other compensation for your work on this study?
No

Do you have any financial relationship with any entity which may closely compete with the medications, materials or instruments covered by your study?
No

Do you own or have you applied for any patents in conjunction with the instruments, medications or materials discussed in your study?
No

This work was not supported by any direct or non direct funding. It is under the author's own responsability

Orbital apex syndrome: diagnostic and therapeutic approach

Objectives: Through a case report, we describe the clinical characteristics and the management’s difficulties of traumatic orbital apex syndrome (OAS)

Introduction: Superior orbital fissure syndrome is an uncommon disorder. Associated with vision loss, it constitutes the orbital apex syndrome. Etiologies of OAS are multiple including infectious, inflammatory, tumoral, traumatic and vascular causes.

Materials / method: A 13-year-old child presented to our department after a blunt agent domestic accident with a right orbital impact point. Ophthalmological examination of the right eye showed an impaired visual acuity (1/10), upper eyelid ecchymosis, total ptosis and complete ophthalmoplegia. Areflective mydriasis was noted in the right eye. Visual evoked potentials showed a prolongation of the P100 latency. Computed Tomography (CT) scan revealed no fracture of the orbital bone structure, a right retrobulbar hemorrhage, grade I exophthalmos and infiltration of the orbital fat in the right eye.

Results: The patient was administrated three bolus of methylprednisolone followed by 1mg/Kg/day of oral corticosteroid therapy. Ophthalmological examination at the 10-day follow-up showed a clear improvement of the visual acuity and of the visual evoked potential amplitudes and latencies. Exophthalmos, hematoma and fat infiltration had resolved at the control Magnetic Resonance Imaging (MRI).

Conclusion: Traumatic OAS is an uncommon disorder whose diagnosis relies primarily on clinical examination. Neuroimaging (CT/MRI) is essential to establish the diagnosis and guide the therapeutic approach. In order to improve the visual prognosis, early diagnosis and multidisciplinary management are necessary.

Disclosures

Did you receive any funding to support your research for this TOPIC?
No

Were you provided with any honoraria, payment or other compensation for your work on this study?
No

Do you have any financial relationship with any entity which may closely compete with the medications, materials or instruments covered by your study?
No

Do you own or have you applied for any patents in conjunction with the instruments, medications or materials discussed in your study?
No

This work was not supported by any direct or non direct funding. It is under the author's own responsability

Unilateral exophthalmos revealing orbital sarcoidosis: a case report

Objectives: Through a case report, we describe the diagnostic, etiological and therapeutic approach to unilateral exophthalmos.

Introduction: Sarcoidosis is a systemic and chronic granulomatous inflammatory disease that affects one or more organs. Isolated inaugural ocular involvement is unusual. It has been reported in 10 to 30% of cases and often leads to diagnostic difficulties, as in our presentation.

Materials / method: A 27-year-old female with no particular medical history presented to our department with a left unilateral painful and progressive exophthalmos. The ophthalmological examination found a decreased visual acuity (5/10), an axial, inflammatory, painful, non-pulsatile and reducible exophthalmos associated with nodular episcleritis and a normal fundus.

Results: Orbital and cerebral computed tomography (CT) and magnetic resonance imaging (MRI) revealed a periorbital fat infiltration. An orbital biopsy revealed an inflammatory granuloma without caseous necrosis. The diagnosis of sarcoidosis was retained and the patient was administrated three bolus of methylprednisolone followed by an oral corticosteroid therapy. The evolution was marked by a significant clinical improvement.

Conclusion: Ocular involvement in sarcoidosis is rare and can affect any part of the eye and its adnexa. This etiology must be systematically evoked in the presence of any unilateral or bilateral exophthalmos after ruling out the main causes. Collaboration of ophthalmologists and internists is required to optimize its management.

Disclosures

Did you receive any funding to support your research for this TOPIC?
No

Were you provided with any honoraria, payment or other compensation for your work on this study?
No

Do you have any financial relationship with any entity which may closely compete with the medications, materials or instruments covered by your study?
No

Do you own or have you applied for any patents in conjunction with the instruments, medications or materials discussed in your study?
No

This work was not supported by any direct or non direct funding. It is under the author's own responsability

Necrotizing scleritis simulating externalized melanoma: about 7 cases

Objectives: Discuter la démarche diagnoqtique d'un mélanome extériorisé devant une sclérite nécrosante.

Introduction: Les sclérites nécrosantes avec inflammation représentent les formes les plus rares mais les plus sévères d’inflammation sclérale. Elles peuvent simuler un processus uvéal malin extériorisé notamment chez les sujets d’âge avancé.
Nous rapportons 7 cas de sclérite nécrosante simulant un mélanome extériorisé tout en discutant la démarche diagnostique.

Materials / method: Tous les patients ont bénéficié d’un examen ophtalmologique complet bilatéral avec mesure de l’acuité visuelle, examen du segment antérieur, et un examen du fond de l’œil. Une échographie oculaire était réalisée dans tous les cas, une angiographie rétinienne à la fluorescéine dans 4 cas, et au vert d’indocyanine dans un cas. Une imagerie par résonnance magnétique (IRM) a été réalisée dans tous les cas.

Results: Il s’agit de 7 patients, 4 hommes et 3 femmes. L’âge moyen était de 58 ans allant de 32 à 76 ans. Une inflammation sévère était associée dans 3 cas avec douleur, rougeur et œdème scléral. Dans 4 cas, la scléromalacie était non inflammatoire et non douloureuse. La confirmation diagnostic était confortée grâce à l’échographie et l’IRM avec injection de gadolinium ayant éliminé tout processus uvéal vascularisé.

Conclusion: Devant un processus pigmenté envahissant la sclère, le diagnostic de mélanome uvéal doit être évoqué avec priorité vue la menace vitale. L’imagerie est d’un apport capital pour le distinguer d’une inflammation scléral nécrosante dont la prise en charge multidisciplinaire reste le garant d’une démarche étiologique et thérapeutique adaptée.

Disclosures

Did you receive any funding to support your research for this TOPIC?
No

Were you provided with any honoraria, payment or other compensation for your work on this study?
No

Do you have any financial relationship with any entity which may closely compete with the medications, materials or instruments covered by your study?
No

Do you own or have you applied for any patents in conjunction with the instruments, medications or materials discussed in your study?
No

This work was not supported by any direct or non direct funding. It is under the author's own responsability

Anatomic results of combined free tarso-conjunctival graft palpebral reconstruction: about 30 cases

Objectives: Décrire les résultats anatomiques de la reconstruction palpébrale par greffon tarso-conjonctival libre combinée

Introduction: La chirurgie d’exérèse tumorale carcinologique est souvent heurtée d’un large défect palpébral de pleine épaisseur. Elle doit être suivie d’une reconstruction palpébrale complexe, visant à rétablir les différentes lamelles palpébrales afin de restituer l’intégrité fonctionnelle et anatomique de cette structure.

Materials / method: Nous avons inclus dans cette étude des patients opérés pour une tumeur médiane atteignant plus que la moitié de la paupière inférieure et épargnant les canthis. La reconstruction du défect palpébrale a été réalisée par greffon tarso-conjonctival libre associée à un lambeau de rotation myo-cutanée.

Results: Il s’agit de 30 patients. L’âge moyen était de 62,3 ans (21 à 93 ans). Le sex-ratio était de 1,8. Il s’agissait d’un carcinome basocellulaire dans 26 cas (86,66%), d’un carcinome épidermoïde dans 3 cas (10%) et d’un carcinome sébacé dans 1 cas (3.33%). La moyenne de la taille du défect palpébral induit était de 16±6 mm. Les résultats esthétiques et fonctionnels étaient satisfaisants dans 86,7 %. Une kératinisation du bord libre était objectivée dans 30% des cas. Un entropion était noté dans 16.3% des cas, une rétraction palpébrale dans 13% des cas, une exposition cornéenne avec ulcération mini

Conclusion: La reconstruction palpébrale par greffon tarso-conjonctival libre présente plusieurs avantages. Il s’agit d’une technique facile et rapide. Elle couvre des défects supérieurs aux trois-quarts de la paupière inférieure avec des résultats esthétiques satisfaisants.

Disclosures

Did you receive any funding to support your research for this TOPIC?
No

Were you provided with any honoraria, payment or other compensation for your work on this study?
No

Do you have any financial relationship with any entity which may closely compete with the medications, materials or instruments covered by your study?
No

Do you own or have you applied for any patents in conjunction with the instruments, medications or materials discussed in your study?
No

This work was not supported by any direct or non direct funding. It is under the author's own responsability

Management of anterior capsule fibrosis in cataract surgery

Objectives: comment gerer une capsule anterieure fibrosé en chirurgie de la cataracte

* connaitre les risques possible en per et post operatoire
* savoir utiliser les moyens disponible au bloc opératoire
* savoir gérer la capsule fibrosé quand elle est associé a d'autres anomalies du segment antérieure

Introduction: la fibrose de la capsule antérieure est plus fréquente dans les cataractes mures ; et fait partie des challenges du chirurgien ophtalmologue pour la réussite de la chirurgie afin d'éviter la survenue de complications en per et post opératoire , surtout quand elle est associé a d'autres facteurs qui peuvent aggravés la chirurgie comme la cas : des myosis pathologiques ou des instabilités ou désinertions zonulaire

Materials / method: video d'une cataracte mure que j'ai opéré chez une patiente de 74 ans ; montrant quelques astuces pour la gestion de la capsule antérieure fibrosé ;
pour la réalisation du capsulorehixs j'ai utilisé :
écarteurs a iris
colorants bleu
anneaux de tension capsulaire
implant monobloc pliable

Results: pour ce cas le patiente avait un myosis rentrant dans le cadre du syndrome pseudo exfoliatif ce qui a nécessiter l'utilisation des écarteurs a iris ; du colorant bleu ; vue l'instabilité zonulaire et la difficulté de continuer le capsulorehxis j'ai du utiliser les écarteurs a iris sur la capsule antérieure au fur et a mesure que je progresse ; et par endroits j'ai utilisé le ciseaux a commande distale et pour maintenir le sac capsulaire qui été instable j'ai utilisé un anneaux de tension capsulaire

Conclusion: un bon capsulorhexis est la clé de réussite de la chirurgie de cataracte ; sur des capsules pathologiques comme la fibrose capsulaire ;l'utilisation de moyens mis a notre disposition tell que écarteurs a iris et capsulaire et anneaux de tension on beaucoup facilité et changés le pronostic de la chirurgie

Disclosures

Did you receive any funding to support your research for this TOPIC?
No

Were you provided with any honoraria, payment or other compensation for your work on this study?
No

Do you have any financial relationship with any entity which may closely compete with the medications, materials or instruments covered by your study?
No

Do you own or have you applied for any patents in conjunction with the instruments, medications or materials discussed in your study?
No

This work was not supported by any direct or non direct funding. It is under the author's own responsability

Laser pointer-induced maculopathy in a teenager

Objectives: To report a case of handheld laser-induced maculopathy and discuss the clinical and imaging features of this condition.

Introduction: Once restricted for professional use, handheld laser pointers have recently become accessible to the public, especially among the young. Macular injuries from the laser exposure may result inpermanent central vision decrease.

Materials / method: Case report

Results: A 16-year-old healthy male presented to our department with a central scotoma in his left eye, one week after exposure to the beam of a laser pointer. On ocular examination, the best-corrected Snellen visual acuity was 10/10 in the right eye and 7/10 in the left eye.Dilated fundus examination revealed a focal puncture yellowish lesion within the fovea in the left eye.(SD-OCT), revealed focal, retrofoveal interruption of ellipsoid and interdigitation zones. n the en-face i OCT, we noted a defect in the outer retina layers.

Conclusion: Handheld laser-induced maculopathy is a rare yet concerning condition with a risk of permanent visual impairment. OCT and OCT-A helps to document the initial lesions and monitor the evolution. Prevention requires rationing of Laser pointer production and sales.

Disclosures

Did you receive any funding to support your research for this TOPIC?
No

Were you provided with any honoraria, payment or other compensation for your work on this study?
No

Do you have any financial relationship with any entity which may closely compete with the medications, materials or instruments covered by your study?
No

Do you own or have you applied for any patents in conjunction with the instruments, medications or materials discussed in your study?
No

This work was not supported by any direct or non direct funding. It is under the author's own responsability

Unilateral proptosis revealing a neuroblastoma in a child: a case report

Objectives: Purpose: To report the case of a child who presented with unilateral proptosis whose exploration revealed neuroblastoma.

Introduction: Neuroblastoma is the most common malignant
tumour in infants, with a median age of onset of
around 2 years [1]. It is the third most common
cause of cancer in children under 15 years old,
after leukaemia and central nervous system
tumours. The incidence of this type of cancer is
about 10 cases per year and per million children
[2]. Of embryonic origin, it is developed from
the neural crest and sympathetic nervous tissue
[1]. Its location varies from retroperitoneal
(medullary adrenal and paravertebral chain),
cervical, thoracic, or pelvic [1,3].

Materials / method: Methods: a case report.

Results: A two-year-old male child, with no medical history, presented with a bad general condition and dyspnea, associated with a rapidly grown unilateral proptosis of the right eye that appeared one month ago with initial periorbital ecchymosis. The ophthalmological examination has found a large orbital tumor with the destruction of the ocular globe and anterior extension to the maxillary region inducing a deformation of the right hemiface. The exam of the left eye was normal.
Orbital MRI showed an extra conical process extending to the ethmoidal cells, the maxillary sinus, and the right jugal region

Conclusion: The management of orbital tumors in children requires radiological examination and multidisciplinary collaboration between ophthalmologists, pediatricians, and radiologists in the management of orbital tumors in children. Although secondary orbital localization of neuroblastoma is rare, the diagnosis should be considered in the presence of unilateral proptosis in children.

Disclosures

Did you receive any funding to support your research for this TOPIC?
No

Were you provided with any honoraria, payment or other compensation for your work on this study?
No

Do you have any financial relationship with any entity which may closely compete with the medications, materials or instruments covered by your study?
No

Do you own or have you applied for any patents in conjunction with the instruments, medications or materials discussed in your study?
No

This work was not supported by any direct or non direct funding. It is under the author's own responsability

Agreement between rebound tonometry and Goldman applanation tonometry for intraocular pressure monitoring

Objectives: To investigate the agreement between rebound tonometry (RT) with Goldman applanation tonometry (GAT) in patients with stable, treated glaucoma
To investigate the impact of CCT on IOP measurement with RT

Introduction: Accurate measurement of intraocular pressure (IOP) is essential for patients with glaucoma. Rebound tonometry (RT) is one of the most popular alternatives to the gold standard method of IOP measurement, Goldman applanation tonometry (GAT). The literature regarding the association between GAT and RT remains limited, with intraclass correlations ranging from 0.4-0.8. While RT is a currently accepted method of measuring IOP, research into the clinically-relevant variations based on IOP ranges and central corneal thickness (CCT) has remained limited by cohort sizes.

Materials / method: A retrospective review was conducted of prospectively collected data on an IOP database in a tertiary centre in Melbourne, Victoria (2017-2018). All patients undergoing glaucoma monitoring with stable IOPs were included. Baseline demographics, same-day RT and GAT IOP measurements and CCT were collated. Univariate logistic regression, intraclass correlations and Bland Altman analyses were conducted to determine the relationship between RT and GAT measurements.

Results: A total of 705 eyes were identified. 365 (51.8%) were male, 340 (78.2%) were female. The mean (SD) age was 72.4 (12.1). The mean (SD) IOP on the GAT was 13.9 (3.8) and on RT was 15.1 (4.8). The mean (SD) CCT was 531 (37.7). Increasing CCT was associated with an over-estimation of IOP through RT (p<0.01). Overall, the correlation between RT and GAT was good (ICC 0.80), with a mean (SD) IOP difference of 1.26 (2.77). The correlation between RT and GAT was particularly limited for IOPs in the 16-23 range with CCT>500 (ICC 0.49), with a mean (SD) IOP difference of 1.63 (3.10).

Conclusion: This large study supports the existing practice of using RT to reliably measure IOP. Furthermore, it supports the literature in CCT affecting IOP measurement through RT. While the correlation between RT and GAT was strong overall, caution must be taken in pressures in the 16-23 range, an important range for glaucomatous patients, due to the significant impacts of increasing CCT on RT. As such, we suggest IOP confirmation with GAT for particularly high-risk patients within this category.

Disclosures

Did you receive any funding to support your research for this TOPIC?
No

Were you provided with any honoraria, payment or other compensation for your work on this study?
No

Do you have any financial relationship with any entity which may closely compete with the medications, materials or instruments covered by your study?
No

Do you own or have you applied for any patents in conjunction with the instruments, medications or materials discussed in your study?
No

This work was not supported by any direct or non direct funding. It is under the author's own responsability

Papillary astrocytic hamartoma: diagnosis and therapeutic approach

Objectives: To describe clinical features of papillary astrocytic hamartoma.

Introduction: Astrocytic hamartoma is a rare benign papillary tumour which mostly occurs in children, causing several problems: differential diagnosis with retinoblastoma, amblyopia and frequent association to neurofibromatosis.

Materials / method: A case report

Results: An 8-year-old child,with family history of consanguine marriage,has presented strabismus since 6 years.Examination of the right eye was normal,while examination of the left eye revealed a visual acuity limited to counting fingers,normal anterior chamber and a raised white nodular papillary lesion,nearly of 2 papillary diameter.B-ultrasonography showed a parapapillary heterogeneous formation,with calcification and poor vascularisation on Doppler.Fluorescein angiography revealed early hypofluorescence followed by late hyperfluorescence without leakage.Pediatric examination and MRI were normal.

Conclusion: Astrocytic hamartoma is a rare glial cell tumour that requires a general workup for associated phacomatoses. The functional visual prognosis is better in small or non-progressive lesions. Nevertheless, long-time follow-up is necessary in order to detect possible complications.

Disclosures

Did you receive any funding to support your research for this TOPIC?
No

Were you provided with any honoraria, payment or other compensation for your work on this study?
No

Do you have any financial relationship with any entity which may closely compete with the medications, materials or instruments covered by your study?
No

Do you own or have you applied for any patents in conjunction with the instruments, medications or materials discussed in your study?
No

This work was not supported by any direct or non direct funding. It is under the author's own responsability

Cranio-orbital tumor as a presenting feature of fibrous dysplasia

Objectives: to describe clinical features and outcomes of fibrous dysplasia in its cranio-orbital location and the place of CT scan in its diagnosis.

Introduction: Fibrous dysplasia is an atypical bone development, characterized by hamartomatous proliferation of the fibrous tissue within the bone marrow associated to secondary bone dysplasia resulting in a weakly calcified neoformed bone. It mainly occurs in children and young adults without gender predominance, affecting all bones. Facial bones are commonly affected.This condition is often asymptomatic, making the diagnosis challenging. The risk of malignant sarcomatous transformation is rare.

Materials / method: A case report

Results: An 8-year-old female patient,with no medical history,presented with a fronto-orbital swelling of the left eyebrow tail with progressive evolution.The examination revealed an oblong tumor measuring 5 centimetres with a hard consistency and fixed to the superficial plane.Biomicroscopic examination was normal.The skull X-ray and the orbito-cerebral CT scan concluded to bone dysplasia predominating at the base of the skull, the cranial vault and the left lateral orbital wall with narrowing of the foramen ovale.Orbital-cerebral MRI ruled out optic nerve compression.

Conclusion: Fibrous dysplasia is a rare affection which diagnosis is challenging. Bone imaging could help establish the diagnosis and identify possible complications (compression, degeneration...). Although the risk of malignant transformation is small, long-time follow-up is required.

Disclosures

Did you receive any funding to support your research for this TOPIC?
No

Were you provided with any honoraria, payment or other compensation for your work on this study?
No

Do you have any financial relationship with any entity which may closely compete with the medications, materials or instruments covered by your study?
No

Do you own or have you applied for any patents in conjunction with the instruments, medications or materials discussed in your study?
No

This work was not supported by any direct or non direct funding. It is under the author's own responsability

Valsalva retinopathy with a visual activity from 1/40 to 1,0

Objectives: To report a curious case of Valsalva retinopathy where the visual activity was improved from 1/40 to 1,0 thanks to pars plana vitrectomy.

Introduction: Valsalva retinopathy was first described by Duane in 1973 [2]. Its pathophysiology is a rupture of superficial retinal capillaries, due to increased intraocular venous pressure secondary to an increase in intrathoracic or intra-abdominal pressure such as intense exercise, heavy lifting, straining on the toilet, in pregnancy, coughing, labor, thoracoabdominal trauma or vigorous sexual activity [3].

Materials / method: Single case report

Results: A 25-year-old male patient presented himself in our Department of Ophthalmology with visual deterioration in the right eye over the last three days. The patient denied a strong cough or obstipation. However, after taking a detailed anamnesis, the patient stated that he had lifted heavy weights as a forest worker two days ago.
Visual acuity was 1/40 in the right eye. Funduscopically, the optic disc on the right eye was swollen with flame-shaped hemorrhages. In the macular area showed a subhyaloidal hemorrhage up to the optic disc and up to the temporal vascular arches without any sign of retin

Conclusion: Valsalva retinopathy results from an increase in intrathoracic or intraabdominal pressure. Three therapeutic options are available: observation with close controls, Nd:YAG hyaloidotomy or pars plana vitrectomy with ILM-peeling and gas injection. In case of foveal bleeding, it is advisable to wait and see, with close monitoring. For macular subhyaloidal hemorrhage, the ppV is the method of choice. If there is sub ILM bleeding, ILM peeling is required.

Disclosures

Did you receive any funding to support your research for this TOPIC?
No

Were you provided with any honoraria, payment or other compensation for your work on this study?
No

Do you have any financial relationship with any entity which may closely compete with the medications, materials or instruments covered by your study?
No

Do you own or have you applied for any patents in conjunction with the instruments, medications or materials discussed in your study?
No

This work was not supported by any direct or non direct funding. It is under the author's own responsability

First report of developmental bilateral cataract with a novel mutation in the ZEB 2 gene observed in Mowat-Wilson syndrome

Objectives: We present the first case of unprecedented bilateral developmental cataract in a 9-year-old girl with Mowat-Wilson syndrom (MWS) who underwent successful cataract surgery with implantation of an artificial lens. Additionally, a novel mutation in the ZEB 2 gene corresponding to MWS was detected. This report allows us to have a more comprehensive insight into the genetic spectrum and the corresponding phenotypic features in MWS patients. Although in most genetic syndromes symptoms are observed early because they usually appear congenital, later manifestations also occur, as our case demonstrates. Therefore, this case emphasizes the importance of frequent follow-ups of children diagnosed with genetic mutations and shows the excellent results of treatment in case of early detection of pathologies and subsequent management.

Introduction: Mowat-Wilson syndrome (MWS) is a rare multisystemic disorder caused by de novo mutations in one allele of the ZEB2 gene. Ocular pathologies are one of the symptoms that appear in the clinical picture of MWS individuals, but not many have been described so far. Pathologies such as optic nerve or retinal epithelium atrophy, iris or optic disc coloboma as well as congenital cataracts have been most frequently described untill now. Therefore, we would like to report the first case of bilateral d

Materials / method: A 9-year-old girl, diagnosed with p.Gln694Ter mutation in ZEB 2 gene and suspicion of Mowat-Wilson syndrome was referred to our clinic for ophthalmological evaluation. Her previous assessments revealed abnormalities of the optic nerve disc. The patient was diagnosed with atrophy of the optic nerve, convergent strabismus and with-the-rule astigmatism.

Results: One year later, during the follow-up visit, the patient was presented with decreased visual acuity, developmental total cataract in the right eye and a developmental partial cataract in the left eye appeared. This resulted in deterioration of visual evoked potentials (VEP) confirming decreased response to stimuli by the visual cortex. The girl was submitted to cataract extraction surgery with implantation of an artificial lens. During the 2-year follow-up period, there were no postoperative complications, visual acuity improved and the response of the visual center was enhanced remarkably.

Conclusion: A new ocular phenotypic feature, developmental cataract, has been identified in individual with MWS. Moreover, a novel mutation (p.Gln694Ter) in the ZEB 2 gene was found, which allows to extend the genetic spectrum of MWS. This report allows us to have a more comprehensive insight into the genetic spectrum and the corresponding phenotypic features in MWS patients.

Disclosures

Did you receive any funding to support your research for this TOPIC?
No

Were you provided with any honoraria, payment or other compensation for your work on this study?
No

Do you have any financial relationship with any entity which may closely compete with the medications, materials or instruments covered by your study?
No

Do you own or have you applied for any patents in conjunction with the instruments, medications or materials discussed in your study?
No

This work was not supported by any direct or non direct funding. It is under the author's own responsability

Diagnosis trap in idiopathic orbital inflammation of the child

Objectives: Etudier les manifestations cliniques et paracliniques ainsi que le traitement d'une inflammation orbitaire idiopathique chez l'enfant qui pose un problème diagnostique.

Introduction: L’inflammation intra orbitaire idiopathique (IOI) est définie comme un processus inflammatoire de l’orbite, non spécifique, non néoplasique et sans causes locales ou systémiques identifiables. Elle est rare chez l’adulte et exceptionnelle chez l’enfant (5 à 17% des IOI). Les manifestations cliniques sont variables, posant parfois le diagnostic de pathologie tumorale, d’où l’intérêt de la biopsie orbitaire.

Materials / method: A propos d'un cas

Results: Un enfant âgé de 2 ans a consulté pour exophtalmie droite aigue dans un contexte inflammatoire et douloureux. L’examen ophtalmologique a trouvé une exophtalmie droite grade III non axile, une kératite d’exposition et au FO un œdème papillaire. La TDM orbito-cérébrale a révélé une hyperdensité inhomogène diffuse infiltrant la graisse orbitaire se rehaussant après injection du PC. L’IRM a montré une volumineuse masse tissulaire intra-orbitaire droite s’étendant dans le canal optique. La biopsie a conclu à une pseudo tumeur inflammatoire. L'évolution était bonne sous corticothérapie générale

Conclusion: L’inflammation orbitaire aigue chez l’enfant est rare. Elle constitue une urgence ophtalmologique de par son pronostic visuel. L’extension extra-orbitaire de l’IOI est exceptionnelle et son traitement n’est pas encore codifié.

Disclosures

Did you receive any funding to support your research for this TOPIC?
No

Were you provided with any honoraria, payment or other compensation for your work on this study?
No

Do you have any financial relationship with any entity which may closely compete with the medications, materials or instruments covered by your study?
No

Do you own or have you applied for any patents in conjunction with the instruments, medications or materials discussed in your study?
No

This work was not supported by any direct or non direct funding. It is under the author's own responsability

Combined retinal and pigment epithelial peripapillary Hamartoma: a case report

Objectives: Décrire les caractéristiques cliniques et paracliniques chez un enfant diagnostiqué avec un hamartome péripapillaire combiné de la rétine et de l'épithélium pigmentaire rétinien.

Introduction: L’hamartome combiné de la rétine et de l’épithélium pigmentaire est une tumeur bénigne et rare de la rétine qui pose, chez l’enfant, un problème de diagnostic différentiel avec le rétinoblastome. Une association avec une neurofibromatose doit être recherchée par un examen général et une neuro-imagerie. La prise en charge thérapeutique de cette affection est compliquée avec un risque considérable d’amblyopie.

Materials / method: A propos d'un cas : Nous présentons le cas d’un enfant âgé de 3 ans, issu d’un mariage consanguin, et qui a consulté pour un strabisme évoluant depuis l’âge de 2 ans.

Results: L'acuité visuelle était réduite à 1/10 aux deux yeux, une esotropie à l'examen et au fond de l’œil une surélévation bilatérale rétractile du pole postérieur plus marquée à gauche avec tortuosités vasculaires marquées. L’échographie B a montré une formation parapapillaire hypoéchogène non vascularisée au doppler. L’angiographie à la fluorescéine a objectivé une hypofluoresence précoce avec tortuosités vasculaires et au temps tardifs de multiples vaisseaux intralésionnels et une dilatation des capillaires péripapillaires, sans diffusion. L’examen pédiatrique et l’IRM cérébrale étaient normaux.

Conclusion: L’hamartome combiné de la rétine et de l’épithélium pigmentaire est une tumeur rare qui nécessite un bilan général à la recherche de neurofibromatose associée. Cette tumeur peut être évolutive et amblyogène chez l’enfant malgré son caractère bénin, d’où l’intérêt d’un diagnostic précoce et d’une surveillance régulière à long terme afin de dépister d’éventuelles complications.

Disclosures

Did you receive any funding to support your research for this TOPIC?
No

Were you provided with any honoraria, payment or other compensation for your work on this study?
No

Do you have any financial relationship with any entity which may closely compete with the medications, materials or instruments covered by your study?
No

Do you own or have you applied for any patents in conjunction with the instruments, medications or materials discussed in your study?
No

This work was not supported by any direct or non direct funding. It is under the author's own responsability

Solitarity choroidal tuberculoma as a presenting manifestation of systemic tubercolosis

Objectives: Décrire les caractéristiques cliniques, paracliniques, le traitement et le pronostic du tuberculome choroïdien révélant une tuberculose systémique.

Introduction: La tuberculose est une maladie infectieuse courante causée par Mycobacterium tuberculosis qui touche plusieurs organes, dont l'œil. N'importe quel segment de l'œil peut être touchée, généralement sans être associé à une tuberculose pulmonaire. Le diagnostic de la tuberculose peut être difficile et les manifestations ophtalmologiques peuvent être caractéristiques de cette maladie. Le tuberculome choroïdien est une forme oculaire rare de la tuberculose.

Materials / method: A props d'un cas : Une femme de 28 ans, sans antécédents médicaux, a présenté une baisse de vision unilatérale de l'œil droit avec une douleur oculaire associée à une céphalée hémicrânienne. La meilleure acuité visuelle corrigée était limitée à 5/10 dans l'œil droit et à 10/10 dans l'œil gauche. L'examen du segment antérieur était normal dans l'œil droit. L'examen à la lampe à fente a révélé une hyalite ( Haze 2+). L'examen du fond d'œil a révélé une masse choroïdienne juxtapapillaire jaunatre surélevée, de presque un diamètre papillaire. L'examen de l'oeil gauche était normal

Results: La SD-OCT a montré une hyperréflectivité et un épaississement des couches internes de la rétine associés à un décollement séreux rétinien. L'angiographie à la fluorescéine a révélé une hyperfluorescence inféropapillaire croissante avec diffusion dans l'œil droit. Le champ visuel de Goldman a montré une tache aveugle élargie. Le diagnostic de tuberculome choroïdien a été établi par une IDR à la tuberculine phlycténulaire. La radiographie du thorax a révélé une tuberculose pulmonaire. une quadrithérapie antituberculeuse associée à une corticothérapie générale. A 6 mois l'AV était de 7/10.

Conclusion: Le diagnostic et la prise en charge de la tuberculose oculaire sont difficiles. L'atteinte oculaire au cours de la tuberculose peut être caractéristique, comme la présence d'un tuberculome choroïdien qui est une manifestation quasi pathognomonique de la maladie. La mise en place d'un traitement précoce et d'une approche multidisciplinaire pourrait garantir une amélioration de la fonction visuelle.

Disclosures

Did you receive any funding to support your research for this TOPIC?
No

Were you provided with any honoraria, payment or other compensation for your work on this study?
No

Do you have any financial relationship with any entity which may closely compete with the medications, materials or instruments covered by your study?
No

Do you own or have you applied for any patents in conjunction with the instruments, medications or materials discussed in your study?
No

This work was not supported by any direct or non direct funding. It is under the author's own responsability

Speakers	Lecture title	Abstract	Number
Dr Malek BELHADJ	Malattia leventinese: about 2 cases	View	114646
Dr Malek BELHADJ	Third cranial nerve palsy revealing internal carotid artery aneurysm: about a case	View	114647
Dr Mohamed Lamjed BEN HADJ KHALIFA	Orbital apex syndrome: diagnostic and therapeutic approach	View	114641
Dr Mohamed Lamjed BEN HADJ KHALIFA	Unilateral exophthalmos revealing orbital sarcoidosis: a case report	View	114645
Dr Amal BEN OTHMEN	Necrotizing scleritis simulating externalized melanoma: about 7 cases	View	114642
Dr Amal BEN OTHMEN	Anatomic results of combined free tarso-conjunctival graft palpebral reconstruction: about 30 cases	View	114643
Dr Kamal BOUCHERMA	Management of anterior capsule fibrosis in cataract surgery	View	114640
Dr Camelia CHAFTER	Laser pointer-induced maculopathy in a teenager	View	114649
Dr Ines CHERNI	Unilateral proptosis revealing a neuroblastoma in a child: a case report	View	114648
Dr Zelia CHIU	Agreement between rebound tonometry and Goldman applanation tonometry for intraocular pressure monitoring	View	114817
Dr Ines FENDOULI	Papillary astrocytic hamartoma: diagnosis and therapeutic approach	View	114628
Dr Ines FENDOULI	Cranio-orbital tumor as a presenting feature of fibrous dysplasia	View	114629
Dr Amine MAAMRI	Valsalva retinopathy with a visual activity from 1/40 to 1,0	View	114635
Dr Agnieszka TRONINA	First report of developmental bilateral cataract with a novel mutation in the ZEB 2 gene observed in Mowat-Wilson syndrome	View	114442
Dr Hajer ZOUARA	Diagnosis trap in idiopathic orbital inflammation of the child	View	114627
Dr Hajer ZOUARA	Combined retinal and pigment epithelial peripapillary Hamartoma: a case report	View	114630
Dr Hajer ZOUARA	Solitarity choroidal tuberculoma as a presenting manifestation of systemic tubercolosis	View	114644

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