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Corneal dystrophy, Fuchs endothelial, 6(FECD6)

MedGen UID:
442478
Concept ID:
C2750448
Disease or Syndrome
Synonym: FECD6
 
Gene (location): ZEB1 (10p11.22)
 
OMIM®: 613270

Definition

Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013). For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (136800). [from OMIM]

Additional description

From MedlinePlus Genetics
Fuchs endothelial dystrophy specifically affects the front surface of the eye called the cornea. Deposits called guttae, which are detectable during an eye exam, form in the middle of the cornea and eventually spread throughout the cornea. These guttae contribute to the ongoing cell death within the cornea, leading to worsening vision problems. Tiny blisters may develop on the cornea, which can burst and cause eye pain.\n\nThe signs and symptoms of Fuchs endothelial dystrophy usually begin in a person's forties or fifties. A very rare early-onset variant of this condition starts to affect vision in a person's twenties.\n\nFuchs endothelial dystrophy is a condition that causes vision problems. The first symptom of this condition is typically blurred vision in the morning that usually clears during the day. Over time, affected individuals lose the ability to see details (visual acuity). People with Fuchs endothelial dystrophy also become sensitive to bright lights.  https://medlineplus.gov/genetics/condition/fuchs-endothelial-dystrophy

Clinical features

From HPO
Keratitis
MedGen UID:
44013
Concept ID:
C0022568
Disease or Syndrome
Inflammation of the cornea.
Corneal stromal edema
MedGen UID:
96883
Concept ID:
C0474444
Finding
Abnormal accumulation of fluid and swelling of the stroma of cornea.
Corneal dystrophy
MedGen UID:
3619
Concept ID:
C0010036
Disease or Syndrome
An abnormality of the cornea that is characterized by opacity of one or parts of the cornea.
Keratitis
MedGen UID:
44013
Concept ID:
C0022568
Disease or Syndrome
Inflammation of the cornea.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Corneal guttata
MedGen UID:
488833
Concept ID:
C0271288
Disease or Syndrome
Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible.
Corneal stromal edema
MedGen UID:
96883
Concept ID:
C0474444
Finding
Abnormal accumulation of fluid and swelling of the stroma of cornea.
Abnormality of Descemet membrane
MedGen UID:
868919
Concept ID:
C4023330
Anatomical Abnormality
Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium.

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