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Features include: Falciform retinal fold and Retinal dysplasia.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 2 | Falciform retinal fold, Retinal dysplasia |
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for X-linked retinal dysplasia.
7 publications have been identified in PubMed for X-linked retinal dysplasia. Research spans Case Report / Case Series (43%), Review / Meta-Analysis (29%), and Basic Science / Preclinical (14%).
Attademo FLN (2026). [PMID: 42165340](https://pubmed.ncbi.nlm.nih.gov/42165340/). *Vet Med Sci*. [Case Report / Case Series]
Appelbaum T (2026). [PMID: 41649227](https://pubmed.ncbi.nlm.nih.gov/41649227/). *Invest Ophthalmol Vis Sci*. [Basic Science / Preclinical]
Karuntu JS (2025). [PMID: 39733931](https://pubmed.ncbi.nlm.nih.gov/39733931/). *Prog Retin Eye Res*. [Review / Meta-Analysis]
Amuzie C (2025). [PMID: 40898803](https://pubmed.ncbi.nlm.nih.gov/40898803/). *Ophthalmic Genet*. [Case Report / Case Series]
Gábor M (2025). [PMID: 40005930](https://pubmed.ncbi.nlm.nih.gov/40005930/). *Vet Sci*. [Epidemiology / Natural History]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:51 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about X-linked retinal dysplasia
Kagan KO (2024). [PMID: 38848751](https://pubmed.ncbi.nlm.nih.gov/38848751/). *Ultraschall Med*. [Review / Meta-Analysis]