Retinal degeneration mimicking cerebral visual impairment in a young child with CEP290 mutations
Case report
empfehlen| Titel: | Retinal degeneration mimicking cerebral visual impairment in a young child with CEP290 mutations |
|---|---|
| Form: | Aufsatz / Artikel |
| Autor(en): | Lea Hyvärinen |
| Jahr: | 2016 |
| Anzahl Seiten: | 5 |
| Verlag: | SAGE Publications |
| Verlag Ort: | Thousand Oaks, CA 91320 |
| Veröffentlicht in: | British Journal of visual impairment |
| Auszug: | "This publication depicts an unusual variant of retinitis pigmentosa–like retinal degeneration with visual adaptation problems in cone cell functioning from early infancy. In the beginning, the symptoms mimicked visual processing disorders (cerebral visual impairment [CVI]). Repeated functional and clinical assessments from the age of 3 years to the age of 9 years confirmed stable retinal functions. Genetic studies at the age of 9 years revealed that the girl and her parents are the carriers of CEP290 mutations." (Zitat und Quelle: British Journal of visual impairment) |