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Z. Li, P. Moradi, D. Mackay, A. G. Robson, G. E. Holder, A. R. Webster; The Clinical Characteristics of Patients With Retinal Degeneration Caused by Biallelic Mutation of RLBP1. Invest. Ophthalmol. Vis. Sci. 2008;49(13):2163. doi: https://doi.org/.
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© ARVO (1962-2015); The Authors (2016-present)
To report the clinical phenotype in 2 families segregating retinal degeneration consequent upon mutation of RLBP1, the gene encoding cellular retinaldehyde-binding protein (CRALBP) a water soluble protein that binds 11-cis retinoids in the retinal pigment epithelium.
Patients attending clinics at Moorfields Eye Hospital with retinal signs of either fundus albipunctatus (FA) or retinal gyrate atrophy were ascertained and examined. Blood was taken for plasma ornithine estimation, and DNA was extracted. The coding sequence of RDH5 and RLBP1 was sequenced.
Family A consisted of three affected female siblings diagnosed with gyrate atrophy, had normal plasma ornithine levels.Family B, consisting of one female and two male siblings had punctate white dots on fundoscopy and a normal coding sequence for RDH5. All affected individuals had night blindness from early childhood. Older individuals had a slowly progressive loss of peripheral field, with loss of central acuity in the 6th to 7th decade. There was widespread loss of RPE and choroid in the 5th to 7th decades. Electroretinography (ERG) in the family B indicated generalized retinal dysfunction with a rod-cone pattern. After overnight dark adaptation, rod-mediated ERGs showed some improvement but did not normalize. Family A segregated, in trans, a previously published mutation in intron 4 (IVS4+2 T>C), and a novel mutation in intron 3 (IVS3+2 delT). Affected members of family B were homozygous for a novel 12bp deletion in exon 5 (F96_F99del).
RLBP1 mutation causes early-onset or congenital night blindness and a slowly progressive retinal degeneration that resembles fundus albipunctatus in the early stages and gyrate atrophy in the late stages of the disease. The failure of rod ERGs to normalize following extended dark adaptation differs from fundus albipunctatus (RDH5 mutation), where rod ERG normalization occurs.
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