- Overview
- Microphthalmia, anophthalmia, coloboma (MAC)
- Congenital cataracts
- Anterior segment dysgenesis
- 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
- Leibovitz Z, Mandel H, Falik-Zaccai TC, et al. Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation. Eur J Paediatr Neurol 2018; 22: 525–531
- Riemersma M, Mandel H, van Beusekom E, et al. Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome. Neurology 2015; 84: 2177–2182
- Geis T, Marquard K, Rödl T, et al. Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy. Neurogenetics 2013; 14: 205–213
- 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