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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.
See: This record
X-linked recessive inheritance (Orphanet)
 
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.
See: Feature record | Search on this feature
Corneal opacity
MedGen UID:
40485
•Concept ID:
C0010038
•
Finding
A reduction of corneal clarity.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Visual Recovery and Endothelial Cell Survival After Descemet Stripping Automated Endothelial Keratoplasty for Failed Penetrating Keratoplasty Grafts—A Cohort Study.
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
Transcriptome analysis of the human corneal endothelium.
Frausto RF, Wang C, Aldave AJ
Invest Ophthalmol Vis Sci 2014 Nov 6;55(12):7821-30. doi: 10.1167/iovs.14-15021. PMID: 25377225Free PMC Article
Corneal dystrophies.
Klintworth GK
Orphanet J Rare Dis 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7. PMID: 19236704Free PMC Article

Diagnosis

Corneal endothelial cell abnormalities in X-linked Alport syndrome.
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
Genetics of the corneal endothelial dystrophies: an evidence-based review.
Aldave AJ, Han J, Frausto RF
Clin Genet 2013 Aug;84(2):109-19. Epub 2013 Jun 10 doi: 10.1111/cge.12191. PMID: 23662738Free PMC Article
Corneal dystrophies.
Klintworth GK
Orphanet J Rare Dis 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7. PMID: 19236704Free PMC Article
Fabry's disease: otoneurologic findings in twelve members of one family.
Vibert D, Blaser B, Ozdoba C, Häusler R
Ann Otol Rhinol Laryngol 2006 Jun;115(6):412-8. doi: 10.1177/000348940611500603. PMID: 16805371
Fabry disease: molecular genetics of the inherited nephropathy.
Desnick RJ, Astrin KH, Bishop DF
Adv Nephrol Necker Hosp 1989;18:113-27. PMID: 2564247

Therapy

Fabry disease: molecular genetics of the inherited nephropathy.
Desnick RJ, Astrin KH, Bishop DF
Adv Nephrol Necker Hosp 1989;18:113-27. PMID: 2564247

Prognosis

Corneal endothelial cell abnormalities in X-linked Alport syndrome.
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
Visual Recovery and Endothelial Cell Survival After Descemet Stripping Automated Endothelial Keratoplasty for Failed Penetrating Keratoplasty Grafts—A Cohort Study.
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
Corneal dystrophies.
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

A new, X-linked endothelial corneal dystrophy.
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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