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GTR Home > Conditions/Phenotypes > Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1

Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1

Summary

Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma-1 (MRCS1) is characterized by poor visual acuity in early childhood. Congenital cataract and microcornea are followed by rod-cone dystrophy, with later development of posterior staphyloma (Cai et al., 2019). Genetic Heterogeneity of Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma MRCS2 (see 193220) is caused by mutation in the BEST1 gene (607854) on chromosome 11q12; 1 such family has been reported. [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARFL2, MRCS1, ARL2
    Summary: ADP ribosylation factor like GTPase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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