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Article

Later retinal degeneration following childhood surgical aphakia in a family with recessive CRYAB mutation (p.R56W).

Ophthalmic genetics - 1 Mar 2010

Khan Arif O, Abu Safieh Leen, Alkuraya Fowzan S, Alkurarya Fowzan S

Abstract excerpt

PURPOSE: To describe later retinal degeneration following childhood cataract surgery without intraocular lens implantation in a consanguineous family with developmental cataract from homozygous p.R56W mutation in CRYAB, a gene that encodes a heat-shock protein (alphaB-crystallin) in both retina a...

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Source

Identifiers

PMID: 20141356
DOI: 10.3109/13816810903452047

Genes

CRYAB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20141356-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Later retinal degeneration following childhood surgical aphakia in a family with recessive CRYAB mutation (p.R56W).PMID 20141356Read ↗

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