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Article

Novel MFSD8 mutation causing non-syndromic asymmetric adult-onset macular dystrophy.

Ophthalmic genetics - 1 Apr 2023

Priluck Aaron Z, Breazzano Mark P

Abstract excerpt

BACKGROUND: MFSD8 mutations can cause type 7 neuronal ceroid lipofuscinosis, a systemic disorder that includes vision loss; however, such mutations can also cause isolated retinal dystrophy with vision loss without systemic signs or symptoms as first identified in 2015. This report details a previously unreported combination of compound heterozygous variants in the MFSD8 gene causing a non-syndromic, bilateral...

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Identifiers

PMID: 35801630
DOI: 10.1080/13816810.2022.2092758

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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