Overview
Gene (OMIM No.) |
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Function of gene/protein |
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Clinical phenotype (OMIM phenotype no.) | |
Inheritance |
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Ocular features | Microphthalmia, isolated, with coloboma 10:Retinal dystrophy, iris coloboma, and comedogenic acne syndrome:
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Systemic features | Retinal dystrophy, iris coloboma, and comedogenic acne syndrome:
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Key investigations |
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Molecular diagnosis | Next generation sequencing
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Management | Ocular
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Therapies under research |
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Further information |
References
- Berry DC, O’Byrne SM, Vreeland AC, Blaner WS, Noy N. Cross talk between signaling and vitamin A transport by the retinol-binding protein receptor STRA6. Mol Cell Biol. 2012;32(15):3164‐3175
- Chou CM, Nelson C, Tarlé SA, et al. Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease. Cell. 2015;161(3):634‐646
- Cukras C, Gaasterland T, Lee P, et al. Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities. PLoS One. 2012;7(11):e50205
- Peterson PA. Studies on the interaction between prealbumin, retinol-binding protein, and vitamin A. J Biol Chem. 1971;246(1):44‐49
- Seeliger MW, Biesalski HK, Wissinger B, et al. Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis. Invest Ophthalmol Vis Sci. 1999;40(1):3‐11