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 |
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Systemic features | Microphtalmia, syndromic 9:
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Key investigations |
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Molecular diagnosis | Next generation sequencing
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Management | OcularSystemic
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Therapies under research |
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Further information |
References
- Isken A, Golczak M, Oberhauser V, et al. RBP4 disrupts vitamin A uptake homeostasis in a STRA6-deficient animal model for Matthew-Wood syndrome. Cell Metab. 2008;7(3):258‐268
- Marcadier JL, Mears AJ, Woods EA, et al. A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly. Am J Med Genet A. 2016;170A(1):11‐18
- Sundaram M, Sivaprasadarao A, DeSousa MM, Findlay JB. The transfer of retinol from serum retinol-binding protein to cellular retinol-binding protein is mediated by a membrane receptor. J Biol Chem. 1998;273(6):3336‐3342
- Casey J, Kawaguchi R, Morrissey M, et al. First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype. Hum Mutat. 2011;32(12):1417‐1426
- Gerth-Kahlert C, Williamson K, Ansari M, et al. Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center. Mol Genet Genomic Med. 2013;1(1):15‐31