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 w...
Topics
- Adolescent
- Atrophy
- Avitaminosis
- Coloboma
- Color Perception Tests
- Dark Adaptation
- Electrooculography
- Electroretinography
- Female
- Humans
- Iris
- Mutation, Missense
- Night Blindness
- Nuclear Family
- Phenotype
- Photoreceptor Cells, Vertebrate
- Pigment Epithelium of Eye
- Retinol-Binding Proteins