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Article

Identification of a novel CRB1 variant in a compound heterozygous state in a patient with CRB1-associated maculopathy and foveal retinoschisis.

Ophthalmic genetics - 1 Apr 2022

Cheng Zhihang, Hagan Richard, Yeo Damien C M

Abstract excerpt

PURPOSE: To report a novel CRB1 variant responsible for autosomal recessive foveal retinoschisis and its associated clinical and electrophysiological data. METHODS: A case report. RESULTS: A 15-year-old boy has foveal retinoschisis similar to those seen in X-linked retinoschisis (XLRS). During follow-up, we observed the co-existence of foveoschitic changes and parafoveal macular atrophy. Molecular genetic testing...

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Identifiers

PMID: 34783605
DOI: 10.1080/13816810.2021.1998551

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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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