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Article

Blended collagenopathy and optic atrophy: a novel phenotype.

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

Raghu Nitya, Dhillon Hennaav Kaur

Abstract excerpt

We report 3 siblings born to consanguineous parents who presented with visual loss secondary to bilateral optic atrophy, along with consistent systemic features, such as dysmorphic facies, sensorineural hearing loss, skeletal anomalies, and global developmental delay. Imaging revealed severe optic canal narrowing with associated nerve compression. Genetic analysis in the eldest sibling identified likely...

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Identifiers

PMID: 41276151
DOI: 10.1016/j.jaapos.2025.104699

Genes

COL11A2
COL2A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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