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RPE65 c.393T>A, p.(Asn131Lys): Novel Sequence Variant Detected

Mirjana Bjeloš1,2,3, Mladen Bušić1,2,3, Ana Ćurić1,3

  • 1Department of Ophthalmology, Reference Center of the Ministry of Health of the Republic of Croatia for Pediatric Ophthalmology and Strabismus, University Hospital "Sveti Duh", Zagreb, Croatia.

Case Reports in Ophthalmological Medicine
|April 11, 2022
PubMed
Summary

This study links a novel RPE65 variant (c.393T>A, p.(Asn131Lys)) to Leber congenital amaurosis (LCA). This finding suggests the variant is likely pathogenic and may indicate candidacy for gene therapy.

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