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Article

Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis.

Investigative ophthalmology & visual science - 1 Jan 1999

Seeliger M W, Biesalski H K, Wissinger B, Gollnick H, Gielen S, Frank J, Beck S, Zrenner E

Abstract excerpt

PURPOSE: To describe the phenotype caused by a retinol deficiency in a family with compound heterozygous missense mutations (Ile41Asn and Gly75Asp) in the gene for serum retinol binding protein (RBP). METHODS: The two affected sisters, 17 (BR) and 13 (MR) years old, were examined clinically and with perimetry, color vision tests, dark adaptometry, rod- and cone-isolated electroretinograms (ERGs), multifocal ERGs,...

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PMID: 9888420

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ERG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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