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To describe a previously unreported clinical entity of progressive extensive macular atrophy and pseudodrusen-like appearance in middle-aged patients. read more
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To describe patients with cone dystrophy and supernormal rod electroretinogram (ERG) and search for mutations in the recently described KCNV2 gene. read more
The usherin gene (USH2A) has been screened for mutations causing Usher syndrome type II (USH2). Two protein isoforms have been identified: a short isoform of 1,546 amino acids and a more recently recognized isoform extending to 5,202 amino acids. We have screened the full length by genomic sequencing. We confirm that many mutations occur in the exons contributing solely to the longer form. USH2 is an autosomal recessive disorder and, in contrast to previous studies, both mutations were identified in 23 patients and a single mutation in 2 out of 33 patients. A total of 34 distinct mutated alleles were identified, including one complex allele with three variants and another with two. A total of 27 of these are novel, confirming that most mutations in usherin are private. Many of the mutations will lead to prematurely truncated protein but as there are a substantial number of missense variants, we have used in silico analysis to assess their pathogenicity. Evidence that they are disease-causing has been produced by protein alignments and three-dimensional (3D) structural predictions when possible. We have identified a previously unrecognized cysteine rich structural domain, containing 12 dicysteine repeats, and show that three missense mutations result in the loss of one of a pair of the defining cysteine-cysteine pairs. read more
Acanthamoeba keratitis is a rare but severe corneal infection which, despite improvements in diagnosis and treatment, still culminates in prolonged morbidity and significant loss of visual acuity. We present the case report of the first identification of Acanthamoeba as a causative agent of keratitis in Tunisia. Case no 1: A 20-year-old girl, nearsighted corrected with soft contact lenses, suffering from a deep corneal inflammation and poor visual acuity The ophthalmological examination showed bilateral dendritiform epithelial keratitis. The illness did not respond to topical and general antibiotic treatment and developed bilateral corneal abscess. Microscopic examination and culture of samples from cornea scraping revealed the presence of trophozoit and cysts of Acanthamoeba associated with Fusarium oxysporum. As the treatment with local Ketoconazol and antibiotherapy didn't show any result, two transfixiant keratoplasty were carried out and treatment by Désomédine, PHMB (polyhexamethylene biguanide) and Voriconazol was started. After two months, the patient felt better, vision was also improved (2/10) and infiltrates became smaller Case no 2: A 19-year-old girl, nearsighted with soft contact lenses consulted for a bilateral corneal ulceration and poor vision (1/20). Trophozoit and cysts of Acanthamoeba were found in the contact lens solution. She was treated quickly with Désomédine. Visual acuity improved to 7/10 but the corneal ulceration left a residual opacity read more
Triple A or Allgrove syndrome is a rare autosomal recessive disease with alacrima, achalasia, and ACTH-resistant adrenal insufficiency. It is usually associated with neurological disorders. Recently, mutations in the AAAS, a candidate gene mapped to chromosome 12q13, were identified. We report a family with seven affected siblings. All of them have signs of alacrima, four were operated on for achalasia, five have neurological abnormalities including cranial nerve abnormalities, amyotrophic lateral sclerosis, pyramidal syndrome, distal motor neuropathy, and amyotrophy, and two have adrenal insufficiency. Triple A syndrome should be considered in any young patient with alacrima. read more
To evaluate the efficacy and safety of subconjunctival injections of clindamycin associated with oral corticotherapy in the treatment of toxoplasmic retinochoroiditis (TRC) and its effect on recurrence. read more
Refractive surgery by LASIK or photorefractive keratectomy (PRK) generaly aims at a myopic population that has a high probability of developing rhegmatogenous retinal detachment (RD). The authors report a multicenter study with 15 cases of RD appearing after refractive surgery by Excimer laser and discuss the role played by the techniques used. read more
Analysis of the epidemiological, clinical and therapeutic characteristics of retinal detachment after ocular blunt trauma. read more
To assess the benefit of cochlear implant in children presenting an Usher type 1 syndrome (speech understanding, speech production intelligibility, academic performance) and to search any correlation between the phenotype and the genotype in this population. read more
