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Article

RPE65 and retinal dystrophy: Report of new and recurrent mutations.

The journal of gene medicine - 1 Mar 2020

Safari Shamsi, Zare-Abdollahi Davood, Bushehri Ata, Safari Mohammad Reza, Dehghani Azadeh, Tahmasebi Zahra, Khorram Khorshid Hamid Reza, Ghadami Mohsen

Abstract excerpt

BACHGROUND: Leber congenital amaurosis (LCA) is a severe and congenital or early onset form of inherited retinitis pigmentosa (RP). To date, approximately 25 genes have been introduced in relation to LCA. In this regard, retinal pigment epithelium-specific 65 kDa (RPE65) is a well-known gene mutation that plays a role in the pathogenesis of 5-10% of LCA cases. METHOS: Two individuals fromseparate families were...

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PMID: 31957135
DOI: 10.1002/jgm.3154

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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