- Overview
- Microphthalmia, anophthalmia, coloboma (MAC)
- Anterior segment dysgenesis
- Congenital cataract
- Congenital glaucoma
- References
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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Ocular features |
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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 | Ocular
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Therapies under research |
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Further information |
References
- Esapa CT, Benson MA, Schröder JE, et al. Functional requirements for fukutin-related protein in the Golgi apparatus. Hum Mol Genet 2002; 11: 3319–3331
- Willer T, Inamori KI, Venzke D, et al. The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation. Elife 2014; 3: 3941
- Cormand B, Pihko H, Bayés M, et al. Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology 2001; 56: 1059–1069
- Beltran-Valero De Bernabé D, Voit T, Longman C, et al. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. J Med Genet 2004; 41: e61
- Van Reeuwijk J, Olderode-Berends MJW, Van Den Elzen C, et al. A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum. Clin Genet 2010; 78: 275–281
- Francisco R, Pascoal C, Marques-da-Silva D, et al. Keeping an eye on congenital disorders of O-glycosylation: A systematic literature review. J Inherit Metab Dis. 2019;42(1):29-48