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Article

Novel LOXL3-associated stickler syndrome-like phenotype: a case report.

Ophthalmic genetics - 1 Oct 2024

Klejnotowska Adrianna E, Higgins Megan, Shah Shaheen P

Abstract excerpt

PURPOSE: To report the case of a young boy with early onset high myopia (eoHM), foveal hypoplasia and skeletal dysplasia due to a homozygous LOXL3 pathogenic variant. Atypically, this was from a paternal uniparental isodisomy (UPiD) of chromosome 2. CLINICAL CASE: Four-year-old boy with several months history of holding items close to his face was found to have reduced visual acuity 6/30 in both eyes, bilateral...

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Source

Identifiers

PMID: 38957076
DOI: 10.1080/13816810.2024.2369273

Genes

LOXL3

Variants

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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