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.