| Autor: |
Tauscher, Robert G., Rahmani, Safa, Szymaniak, Brittany M., Jampol, Lee M., Mirza, Rukhsana G. |
| Zdroj: |
Retinal Cases & Brief Reports; May2023, Vol. 17 Issue 3, p261-265, 5p |
| Abstrakt: |
We present a case of a family with a novel mutation in a gene associated with retinal dystrophy. This single mutation seems capable of causing multiple diverse retinal diseases with varying levels of visual impairment. It may be modulated by a second mutation in a different gene. Purpose: To present the case of a family with a novel PRPH2/RDS mutation. Methods: A case report of a 44-year-old woman and her immediate family, including the father and a sister who shared her PRPH2/RDS mutation. Results: A 44-year-old woman presented with examination findings consistent with a butterfly-type pattern dystrophy. A sister had a similar butterfly-type dystrophy, whereas their father had a severe cone–rod dystrophy. Genetic testing revealed the same novel PRPH2/RDS mutation in all three affected individuals, suggesting that this single mutation can produce at least two disparate retinal disease phenotypes. Conclusion: This case describes a novel p.Y225X nonsense mutation in the PRPH2/RDS gene and demonstrates that it is both pathologic and capable of significant phenotypic variability. [ABSTRACT FROM AUTHOR] |
| Databáze: |
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