Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting…

Cohort studyInvestigative ophthalmology & visual science· Feb 2025

Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll.

Kari Branham, Lassana Samarakoon, Isabelle Audo … Foundation Fighting Blindness Clinical Consortium Investigator Group

RetinaCohort studyQ1IF 4.2

ABCA4 gene variants were the most common cause of inherited retinal disease found

Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll.

Kari Branham … Foundation Fighting Blindness Clinical Consortium Investigator Group

Investigative ophthalmology & visual science · Feb 2025 · Q1 in Ophthalmology

Purpose

The Foundation Fighting Blindness (Foundation Fighting Blindness) Consortium is a collaboration of 41 international clinical centers that manage patients affected with inherited retinal diseases (inherited retinal diseases).

Methods

In 2022, academic, private practice, and government ophthalmology clinics that are members of the Consortium centers were polled to identify per-case inherited retinal diseases genetic causality from a list of 387 syndromic and nonsyndromic inherited retinal diseases genes.

n = 33,834 patients

Results

of these patients, an ABCA4 gene change was the cause

ABCA4

17%

USH2A

9%

RPGR

6%

PRPH2

5%

More results

Thirty centers responded and reported genetic data from 33,834 patients (27,561 families).

Disease-causing variants were reported in 293 of 387 genes.

The top 100 genes accounted for the genetic cause of disease in 94.4% of patients.

More results

In the 21 US sites, genetic testing was commonly obtained through sponsored programs (95%, FFB-My Retina Tracker Programs or Spark-ID Your inherited retinal diseases), whereas in the 9 non-US sites, genetic testing was commonly obtained using either patient- or public health system-funded testing pipelines.

“

Conclusion

This report provides the largest assessment of genetic causality in the inherited retinal diseases patient population across multiple continents to date.

Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll.

Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll.

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