A Novel PRPH2/RDS Mutation Identified in a Family with Varying Clinical Manifestations: A case report.

Purpose To present the case of a family with a novel PRPH2/RDS mutation. Methods A case report. Patients A 44 year old female and her immediate family, including a father and sister who shared her PRPH2/RDS mutation. Results A 44 year old female presented with exam findings consistent with a butterfly-type pattern dystrophy. A sister had a similar butterfly-type dystrophy, while 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.