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X-linked endothelial corneal dystrophy(XECD)

MedGen UID:
413518
Concept ID:
C2749049
Disease or Syndrome
Synonyms: Corneal Dystrophy, Endothelial, X-Linked; Endothelial Corneal Dystrophy, X-Linked
SNOMED CT: X-linked endothelial dystrophy of cornea (718579008); X-linked endothelial corneal dystrophy (718579008)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Monarch Initiative: MONDO:0010426
OMIM®: 300779
Orphanet: ORPHA293621

Definition

A rare subtype of posterior corneal dystrophy with characteristics of congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. Prevalence of this rare corneal dystrophy is unknown. Males are affected more severely than females. The condition is progressive in males and non-progressive in females. Has been mapped to the long arm of the X-chromosome (Xq25) but the causative gene has not been identified. Transmission is X-linked recessive. [from SNOMEDCT_US]

Clinical features

From HPO
Corneal dystrophy
MedGen UID:
3619
Concept ID:
C0010036
Disease or Syndrome
The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.
Corneal opacity
MedGen UID:
40485
Concept ID:
C0010038
Finding
A reduction of corneal clarity.
Band-shaped keratopathy
MedGen UID:
56354
Concept ID:
C0155120
Disease or Syndrome
An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation.

Recent clinical studies

Therapy

Desnick RJ, Astrin KH, Bishop DF
Adv Nephrol Necker Hosp 1989;18:113-27. PMID: 2564247

Prognosis

Nicklason E, Mack H, Beltz J, Jacob J, Farahani M, Colville D, Savige J
Ophthalmic Genet 2020 Feb;41(1):13-19. Epub 2020 Mar 11 doi: 10.1080/13816810.2019.1709126. PMID: 32159412
Tarantino-Scherrer JN, Kaufmann C, Bochmann F, Bachmann LM, Thiel MA
Cornea 2015 Sep;34(9):1024-9. doi: 10.1097/ICO.0000000000000538. PMID: 26203743
Klintworth GK
Orphanet J Rare Dis 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7. PMID: 19236704Free PMC Article

Clinical prediction guides

Schmid E, Lisch W, Philipp W, Lechner S, Göttinger W, Schlötzer-Schrehardt U, Müller T, Utermann G, Janecke AR
Am J Ophthalmol 2006 Mar;141(3):478-487. doi: 10.1016/j.ajo.2005.10.020. PMID: 16490493

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