X-linked corneal endothelial dystrophy

Classification according to ICD-10
H18.5	Hereditary corneal dystrophies
ICD-10 online (WHO version 2019)

The X-linked endothelial corneal dystrophy (XECD) is a very rare congenital form of a rear corneal dystrophy with at birth existing milk vitreous opacity of the cornea in male affected.

The first description comes from 2006 by the ophthalmologist Eduard Schmid and his colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is X-linked recessive . The male sex is much more affected.

root cause

The disease is based on mutations on the X chromosome locus q25.

Clinical manifestations

Clinical criteria are:

Corneal opacity at birth in males
blurred vision , possibly with nystagmus
no symptoms in the female sex , crater-like changes in the endothelium of the cornea

Differential diagnosis

Other forms of corneal dystrophy are to be distinguished.

literature

IC3D classification

Individual evidence

↑ ^a ^b ^c Endothelial corneal dystrophy, X-linked. In: Orphanet (Rare Disease Database).
^ Schmid E, Lisch W, Philipp W, Lechner S, Göttinger W, Schlötzer-Schrehardt U, Müller T, Utermann G, Janecke AR (March 2006). "A new, X-linked endothelial corneal dystrophy". At the. J. Ophthalmol. 141 (3): 478-487. doi: 10.1016 / j.ajo.2005.10.020 . PMID 16490493 .
↑ Corneal dystrophy, endothelial, X-linked. In: Online Mendelian Inheritance in Man . (English)

[Orpha-1] Endothelial corneal dystrophy, X-linked. In: Orphanet (Rare Disease Database).

[2] Schmid E, Lisch W, Philipp W, Lechner S, Göttinger W, Schlötzer-Schrehardt U, Müller T, Utermann G, Janecke AR (March 2006). "A new, X-linked endothelial corneal dystrophy". At the. J. Ophthalmol. 141 (3): 478-487. doi: 10.1016 / j.ajo.2005.10.020 . PMID 16490493 .

[3] Corneal dystrophy, endothelial, X-linked. In: Online Mendelian Inheritance in Man . (English)