Disease

RPE65 associated Leber congenital amaurosis, early-onset severe retinal dystrophy1

Gene

RPE65

Inheritance AR
Current Treatments gene therapy (Luxturna)
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test full-field electroretinography and peripheral fundus autofluorescence1
ClinGen https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC012
Disease Frequency (per 100,000) 0.6852
Genes Included in Disease Frequency RPE65
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=rpe65&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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