night blindness/arginine

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Clinical and ERG data in a family with autosomal dominant RP and Pro-347-Arg mutation in the rhodopsin gene.

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In a family with autosomal dominant retinitis pigmentosa, documented over six generations, a previously undescribed point mutation in the rhodopsin gene could be identified. The mutation found in the six affected members examined but in none of the controls, including healthy members of the family,

Comparison between the enzymatic activity, structure and substrate binding of mouse and human lecithin retinol acyltransferase.

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Lecithin retinol acyltransferase (LRAT) is involved in the visual cycle where it catalyzes the formation of all-trans retinyl ester. The mouse animal model has been widely used to study LRAT. Primary sequence alignment shows 80% identity and 90% similarity between human and mouse LRAT. However,

Dominant retinitis pigmentosa associated with two rhodopsin gene mutations. Leu-40-Arg and an insertion disrupting the 5'-splice junction of exon 5.

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OBJECTIVE To determine the phenotypes of two families in which retinitis pigmentosa cosegregates with a rhodopsin (RHO) gene mutation: a leucine-to-arginine change at codon 40 (Leu-40-Arg) in one family, and a 150-base pair insertion that disrupts the RHO 5'-splice junction of exon 5 in

A novel His158Arg mutation in TIMP3 causes a late-onset form of Sorsby fundus dystrophy.

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OBJECTIVE To describe the phenotype and genotype of a family with suspected Sorsby fundus dystrophy (SFD). METHODS Case reports and results of deoxyribonucleic acid (DNA) analysis. METHODS Clinical features were determined by complete ophthalmologic examination or by review of medical records.

Nutrition and retinal degenerations.

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Considerable progress has been made in the understanding and management of degenerative diseases of the retina involving photoreceptors. Nutritional approaches to treatment have proved successful in the case of the common forms of retinitis pigmentosa (supplementation with vitamin A),

Inborn Errors of Metabolism: Gyrate Atrophy.

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Gyrate atrophy is an autosomal recessive dystrophy in which night blindness starts early in the first decade of life. In the early stages, large areas of retinal pigment epithelium (RPE) and choriocapillaris (CC) atrophy in the far periphery (lobular shape, Fig. 37.1). (In choroideremia, atrophy

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