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Article

Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations.

Acta ophthalmologica - 1 Aug 2013

Burstedt Marie, Jonsson Frida, Köhn Linda, Burstedt Magnus, Kivitalo Markus, Golovleva Irina

Abstract excerpt

PURPOSE: To evaluate phenotypes caused by different RLBP1 mutations in autosomal recessive retinitis pigmentosa of Bothnia type. METHODS: Compound heterozygotes for mutations in the RLBP1 gene [c.677T>A]+[c.700C>T] (p.M226K+p.R234W), n = 10, aged 7-84 years, and homozygotes c.677T>A (p.M226K), n = 2, aged 63 and 73 years, were studied using visual acuity (VA), low-contrast VA, visual fields (VFs) and optical...

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Identifiers

PMID: 22551409
DOI: 10.1111/j.1755-3768.2012.02431.x

Genes

RLBP1
ERG

Variants

Provenance

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