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Article

Mthfr as a modifier of the retinal phenotype of Crb1(rd8/rd8) mice.

Experimental eye research - 1 Apr 2016

Markand Shanu, Saul Alan, Tawfik Amany, Cui Xuezhi, Rozen Rima, Smith Sylvia B

Abstract excerpt

Mutations in crumb homologue 1 (CRB1) in humans are associated with Leber's congenital amaurosis (LCA) and retinitis pigmentosa (RP). There is no clear genotype-phenotype correlation for human CRB1 mutations in RP and LCA. The high variability in clinical features observed in CRB1 mutations suggests that environmental factors or genetic modifiers influence severity of CRB1 related retinopathies. Retinal...

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Source

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Identifiers

PMID: 26646559
DOI: 10.1016/j.exer.2015.11.013
PMCID: PMC4842092

Genes

CRB1
MTHFR
ERG

Provenance

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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