Overview
Gene (OMIM no.) |
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Function of gene/protein |
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Clinical phenotype (OMIM phenotype no.) |
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Inheritance |
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Signs for LCA |
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Signs for RP |
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Visual function | LCA:
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Systemic features |
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Key investigations |
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Molecular diagnosis | Next generation sequencing
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Management | |
Therapies under research |
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Further information |
References
- Eblimit A, Agrawal SA, Thomas K, et al. Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice [published correction appears in Exp Eye Res. 2018 Mar 23;171:119]. Exp Eye Res. 2018;166:120-130
- Eblimit A, Agrawal SA, Thomas K, et al. Corrigendum to “Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice” [Exp. Eye Res. 166 (2018) 120-130]. Exp Eye Res. 2018;171:119
- Eblimit A, Nguyen TM, Chen Y, et al. Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina. Hum Mol Genet. 2015;24(6):1584-1601
- Zahid S, Branham K, Schlegel D, et al. Retinal Dystrophy Gene Atlas. Springer; 2018
- Mackay DS, Ocaka LA, Borman AD, et al. Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations. Invest Ophthalmol Vis Sci. 2011;52(6):3032-3038
- Wang H, den Hollander AI, Moayedi Y, et al. Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa [published correction appears in Am J Hum Genet. 2010 Feb;86(2):293. Abboud, Emad B [added]; Al-Rajhi, Ali A [added]]. Am J Hum Genet. 2009;84(3):380-387
- Perrault I, Hanein S, Gerard X, et al. Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Hum Mutat. 2010;31(3):E1241-E1250