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A patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for butterfly-shaped pigment dystrophy.
6 publications have been identified in PubMed for butterfly-shaped pigment dystrophy. Research spans Case Report / Case Series (67%), Review / Meta-Analysis (17%), and Epidemiology / Natural History (17%).
Backlund MP (2026). [PMID: 41047250](https://pubmed.ncbi.nlm.nih.gov/41047250/). *Ophthalmic genetics*. [Case Report / Case Series]
Ahmed H (2026). [PMID: 35881734](https://pubmed.ncbi.nlm.nih.gov/35881734/). *Unknown Journal*. [Review / Meta-Analysis]
Alexis JA (2025). [PMID: 40455352](https://pubmed.ncbi.nlm.nih.gov/40455352/). *Documenta ophthalmologica. Advances in ophthalmology*. [Case Report / Case Series]
Rodriguez R (2025). [PMID: 40098045](https://pubmed.ncbi.nlm.nih.gov/40098045/). *International journal of retina and vitreous*. [Case Report / Case Series]
Anwarzai Sulavikova Z (2025). [PMID: 40336309](https://pubmed.ncbi.nlm.nih.gov/40336309/). *European journal of ophthalmology*. [Case Report / Case Series]
Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 8:09 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Jaskoll S (2024). [PMID: 39585675](https://pubmed.ncbi.nlm.nih.gov/39585675/). *Investigative ophthalmology & visual science*. [Epidemiology / Natural History]