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Article

Congenital retinal folds.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Feb 2025

Zhong Lydia, Dhallan Alisha, Lueder Gregg T, Reynolds Margaret M

Abstract excerpt

Congenital retinal folds (CRFs) are a rare entity, with an incompletely understood pathogenesis. They are often associated with ocular conditions such as familial exudative vitreoretinopathy (FEVR). We present a series of 5 patients with unilateral CRFs who underwent genetic testing. Mutations were identified in 4 patients: FZD4 and TSPAN12, both associated with FEVR, and IMPDH1 and PEX1, whose roles in CRF are...

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Source

Identifiers

PMID: 39884496
DOI: 10.1016/j.jaapos.2025.104118

Genes

FZD4
IMPDH1
PEX1
TSPAN12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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