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Novel membrane frizzled-related protein (MFRP) gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds
PURPOSE: We present a genetic and clinical analysis of two sisters, 3 and 4 years of age, with nanophthalmos and macular folds. METHODS: Ophthalmological examination, general pediatric examination and molecular genetic analysis of the MFRP gene were performed in both affected siblings. RESULTS: Clin...
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| Autors principals: | , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2013
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3773268/ https://ncbi.nlm.nih.gov/pubmed/23742260 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/aos.12105 |
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