NOVEL PRPH2/RDS MUTATION IDENTIFIED IN A FAMILY WITH VARYING CLINICAL MANIFESTATIONS: A CASE REPORT.
Retin Cases Brief Rep
; 17(3): 261-265, 2023 May 01.
Article
em En
| MEDLINE
| ID: mdl-34127626
ABSTRACT
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.
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Base de dados:
MEDLINE
Assunto principal:
Doenças Retinianas
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article