Retinal diseases linked to systemic conditions often overlooked in standard genetic testing
Standard inherited retinal degeneration (IRD) panels may miss retinal pathologies associated with treatable systemic diseases, according to a poster presented at the 24th Euretina Congress, which suggested targeted genetic testing or whole exome sequencing may help better identify these conditions.
The retrospective case series demonstrated that targeted genetic testing can uncover previously undetected retinal pathologies associated with treatable systemic conditions.
Three patients were analyzed after their IRD panels returned negative results. Each patient had systemic conditions that did not initially explain their retinal symptoms. An 18-year-old with celiac disease and Ehlers-Danlos syndrome was diagnosed with granulomatous panuveitis and a heterozygous NOD2 mutation, suggesting Blau syndrome. A 54-year-old with a history of systemic lupus erythematosus, among other conditions, showed retinal atrophy and a pathogenic ALPK1 variant. Lastly, a 55-year-old with systemic lupus erythematosus had foveal atrophy and was found to have a pathogenic SLC19A2 variant.
The study suggests that whole exome sequencing could be a valuable tool for identifying underlying genetic causes in such cases, offering potential for more effective systemic treatments.
Reference
Bommakanti N, et al. Beyond the panel: Time to prioritize whole exome sequencing? [e-Poster Abstract]. Euretina Congress 2024. Barcelona, Spain 19 – 22 September 2024.
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