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Article

Unusual phenotypic expression of an XLRS1 mutation in X-linked juvenile retinoschisis.

Journal of child neurology - 1 Apr 2006

Dodds Jodi A, Srivastava Anand K, Holden Kenton R

Abstract excerpt

X-linked juvenile retinoschisis is a rare progressive vitreoretinal degenerative process that appears in early childhood, results in decreased visual acuity and blindness (if severe), and is caused by various mutations within the XLRS1 gene at Xp22.2. We report an affected family of Western European ancestry with X-linked juvenile retinoschisis. The family was found to carry a 304C-->T substitution in exon 4 of...

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PMID: 16900931
DOI: 10.1177/08830738060210041901

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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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