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Article

Macular neovascularisation in a patient with osteogenesis imperfecta exhibiting a novel COL1A1 mutation.

BMJ case reports - 7 Nov 2022

Sato Yoshiki, Kimoto Kenichi, Takaki Yasuhiro, Kubota Toshiaki

Abstract excerpt

Osteogenesis imperfecta is a congenital disease that presents with varying degrees of connective tissue symptoms, including susceptibility to fracture, growth disorders and hearing loss. Here, we discuss a case in which macular neovascularisation (MNV) resulted in metamorphopsia and decreased visual acuity in a patient with osteogenesis imperfecta exhibiting a novel COL1A1 gene mutation (p.Tyr165*). The patient...

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Identifiers

PMID: 36343986
DOI: 10.1136/bcr-2022-251763
PMCID: PMC9644304

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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