Objectives: To recognise retinitis pigmentosa even in early stages and to propose a strategic approach from clinical to genetic diagnosis.

Introduction: Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of neurodegenerative disorders. They are characterized by progressive visual loss due to degeneration of photoreceptors and/or retinal epithelium pigmentary cells. IRDs affect approximately 1 in 4000 individuals. Retinitis pigmentosa (RP) is the most frequent form of IRD (35%) with all types of transmission (presumed AR 65%, aD 20 %, X linked 15 % and less frequently mitochondrial inheritance). More than 250 genes are known to be associated with isolated or syndromic RP.

Materials / method: The clinical and genetic registers of a national center included more than 4500 families with inherited retinal dystrophies were reviewed.

Results: We evaluated a clinical approach including functional explorations and multimodal imaging data excluding fluorescein angiography. The dedicated panel allowed to identify the causal pathogenic variations in 55% of cases.

Conclusion: Due to emergent gene therapies, patients should have a proven clinical and genetic diagnosis and should be registered in reference national centre in order to be enrolled in clinical trials during the correct therapeutic window.

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

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

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

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