Genetic testing for which gene is specifically listed in RP testing guidelines?

Genetic testing for which gene is specifically listed in RP testing guidelines?

• A. RPE-65
• B. CFTR
• C. ABCA4
• D. G6PD

Answer: (A)

In RP genetic testing guidelines, genes are highlighted when testing can directly influence a patient’s management because there is a proven, actionable option. RPE65 is listed because mutations in this gene cause a form of inherited retinal dystrophy for which a targeted gene therapy (and related diagnostic considerations) are available. This makes testing for RPE65 particularly important in RP evaluations. The other genes don’t have the same direct, approved treatment pathway for retinal disease. CFTR is linked to cystic fibrosis, not retinal dystrophy. ABCA4 is associated with Stargardt disease and other retinal conditions, and may appear on broader panels, but it isn’t a core RP gene with a specific guideline emphasis. G6PD relates to a blood enzyme deficiency, not retina health.

In RP genetic testing guidelines, genes are highlighted when testing can directly influence a patient’s management because there is a proven, actionable option. RPE65 is listed because mutations in this gene cause a form of inherited retinal dystrophy for which a targeted gene therapy (and related diagnostic considerations) are available. This makes testing for RPE65 particularly important in RP evaluations.

The other genes don’t have the same direct, approved treatment pathway for retinal disease. CFTR is linked to cystic fibrosis, not retinal dystrophy. ABCA4 is associated with Stargardt disease and other retinal conditions, and may appear on broader panels, but it isn’t a core RP gene with a specific guideline emphasis. G6PD relates to a blood enzyme deficiency, not retina health.