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Article

Association of the Recurrent Rare Variant c.415T>C p.Phe139Leu in CLN5 With a Recessively Inherited Macular Dystrophy.

JAMA ophthalmology - 1 Mar 2021

Magliyah Moustafa S, Geuer Sinje, Alsalamah Abrar K, Lenzner Steffen, Drasdo Mojgan, Schatz Patrik

Abstract excerpt

Importance: Homozygous variants in the neuronal ceroid lipofuscinosis type 5 (CLN5) gene are associated with neuronal ceroid lipofuscinosis, a progressive neurologic disorder that leads to ataxia, seizures, and early death. The association between a homozygous variant in this gene and a macular dystrophy is described here. Objective: To describe an autosomal recessive macular dystrophy associated with a recurrent...

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Identifiers

PMID: 33507209
DOI: 10.1001/jamaophthalmol.2020.6085
PMCID: PMC7844694

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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