A Novel PAX6 Mutation in a Patient with Nonsyndromic Dominant Foveal Hypoplasia and Congenital Nystagmus.
Background: Foveal hypoplasia is a disorder in which the fovea does not develop normally. It is commonly associated with congenital nystagmus and other developmental conditions, such as aniridia and albinism. Case Report: We examined a 15-year-old female who presented with foveal hypoplasia and cong...
| Publicado en: | Optometry & Visual Performance Vol. 7; no. 5/6; pp. 323 - 327 |
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| Autores principales: | , , |
| Formato: | case study diagnostic images pictorial tables/charts Journal Article |
| Publicado: |
Optometric Extension Program
Dec2019
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| Acceso en línea: | Ver este registro en EBSCOhost |
| Sumario: | Background: Foveal hypoplasia is a disorder in which the fovea does not develop normally. It is commonly associated with congenital nystagmus and other developmental conditions, such as aniridia and albinism. Case Report: We examined a 15-year-old female who presented with foveal hypoplasia and congenital nystagmus in the absence of any systemic or anterior segment abnormalities. Genetic testing showed a novel PAX6 missense mutation. Conclusion: This report highlights a case of autosomal dominant, isolated foveal hypoplasia with a novel PAX6 mutation without any anterior segment anomalies. |
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