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X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.
Features include very common findings: Cloudy or opaque cornea (corneal opacity), Band keratopathy, Reduced visual acuity, and Abnormal corneal endothelium morphology; and rarely findings: Esotropia, Nystagmus, and Nuclear cataract. 8 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 5 | Cloudy or opaque cornea (corneal opacity), Clouding of the cornea (corneal dystrophy), Abnormal corneal endothelium morphology |
Phenotype severity distribution: 4 very common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for X-linked endothelial corneal dystrophy.
8 publications have been identified in PubMed for X-linked endothelial corneal dystrophy. Kisho has analyzed 4 by research type. Research spans Review / Meta-Analysis (50%), Case Report / Case Series (25%), and Epidemiology / Natural History (25%).
Berger T (2026). [PMID: 40742200](https://pubmed.ncbi.nlm.nih.gov/40742200/). *Cornea*. [Case Report / Case Series]
Flockerzi E (2026). [PMID: 41248687](https://pubmed.ncbi.nlm.nih.gov/41248687/). *Klin Monbl Augenheilkd*. [Review / Meta-Analysis]
Liskova P (2025). [PMID: 40079222](https://pubmed.ncbi.nlm.nih.gov/40079222/). *Clin Exp Ophthalmol*. [Review / Meta-Analysis]
Touirssa O (2025). [PMID: 40874967](https://pubmed.ncbi.nlm.nih.gov/40874967/). *J Epidemiol Glob Health*. [Epidemiology / Natural History]
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 11:50 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about X-linked endothelial corneal dystrophy