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Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting
Kari Branham1, Lassana Samarakoon2, Isabelle Audo3,4
1University of Michigan, Kellogg Eye Center, Department of Ophthalmology and Vision Sciences, Ann Arbor, Michigan, United States.
Investigative Ophthalmology & Visual Science
|February 5, 2025
Summary
The Foundation Fighting Blindness Consortium
Area of Science:
- Ophthalmology
- Genetics
- Medical Research
Background:
- Inherited retinal diseases (IRDs) affect numerous patients globally.
- The Foundation Fighting Blindness (FFB) Consortium unites international clinical centers managing IRD patients.
- Understanding the genetic basis of IRDs is crucial for diagnosis and treatment.
Purpose of the Study:
- To capture the genetic causes of IRDs within the FFB Consortium.
- To analyze associated clinical practices and genetic testing methods used by Consortium sites.
- To report findings from the 2022 annual Consortium gene poll.
Main Methods:
- A survey of 41 international clinical centers within the FFB Consortium.
- Polling academic, private practice, and government ophthalmology clinics.
- Collecting genetic causality data for 387 IRD genes from 33,834 patients.
Main Results:
- Disease-causing variants were identified in 293 out of 387 genes.
- The most frequent genetic causes were ABCA4 (17%), USH2A (9%), RPGR (6%), PRPH2 (5%), and RHO (4%).
- The top 100 genes explained 94.4% of IRD genetic causes; genetic counselors were present in two-thirds of centers.
Conclusions:
- This study represents the largest assessment of genetic causality in IRD patients across continents.
- Findings highlight the prevalence of specific genes in IRD etiology.
- Variations in genetic testing accessibility and funding were observed between US and non-US sites.
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