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Article

Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1.

Investigative ophthalmology & visual science - 1 Jul 2008

Köhn Linda, Burstedt Marie S I, Jonsson Frida, Kadzhaev Konstantin, Haamer Eneli, Sandgren Ola, Golovleva Irina

Abstract excerpt

PURPOSE: Bothnia dystrophy (BD) is an autosomal recessive retinitis pigmentosa (arRP) associated with the c.700C>T mutation in the RLBP1 gene. Testing of patients with BD has revealed the c.700C>T mutation on one or both alleles. The purpose of this study was to elucidate the underlying genetic mechanisms along with a clinical evaluation of the heterozygous patients with BD. METHODS: Patients with BD heterozygous...

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Source

Identifiers

PMID: 18344446
DOI: 10.1167/iovs.07-1664

Genes

RLBP1

Variants

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