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Article

High Myopia and Strabismus Induced by a Deep Intronic Mutation in COL2A1.

Current eye research - 1 Jul 2021

Rossenwasser-Weiss Shirel, Orenstein Naama, Zahavi Alon, Goldenberg-Cohen Nitza

Abstract excerpt

Purpose: To characterize a genetic mutation causing Stickler syndrome in a previously undiagnosed family.Methods: Five generations of a single family suspected of having Stickler syndrome were evaluated clinically and genetically.Results: The demographic and clinical data yielded specific clinical phenotypes of Stickler syndrome in 13 family members; 7 had more than one clinical feature. Four family members...

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Source

Identifiers

PMID: 33295219
DOI: 10.1080/02713683.2020.1855661

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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