COL8A2 gene related symptoms and diseases

Alternate names

POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY Is also known as schlichting dystrophy, corneal endothelial dystrophy 1, autosomal dominant, formerly, ppcd, ched1, formerly, posterior polymorphous dystrophy, maumenee corneal dystrophy, posterior polymorphous corneal dystrophy, corneal dystrophy, hereditary polymorphous poster

Description

Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy (see this term) characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.

Most common symptoms of POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY

• Edema
• Glaucoma
• Photophobia
• Corneal opacity
• Falls

SOURCES: OMIM ORPHANET

Most common symptoms of CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2; PPCD2

• Corneal opacity
• Corneal dystrophy

SOURCES: OMIM MESH

Alternate names

FUCHS ENDOTHELIAL CORNEAL DYSTROPHY Is also known as fecd, late hereditary endothelial dystrophy, endoepithelial corneal dystrophy

Description

Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy (see this term) and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity.

Most common symptoms of FUCHS ENDOTHELIAL CORNEAL DYSTROPHY

• Cataract
• Blindness
• Abnormality of the eye
• Opacification of the corneal stroma
• Corneal dystrophy

SOURCES: ORPHANET

Alternate names

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1; FECD1 Is also known as corneal dystrophy, fuchs endothelial, early-onset

Description

Fuchs endothelial corneal dystrophy (FECD) is a progressive, bilateral condition characterized by dysfunction of the corneal epithelium, leading to reduced vision. The prevalence of FECD has been estimated at about 5% among persons over the age of 40 years in the United States. The vision loss in patients with FECD results from a loss of corneal transparency associated with irregularity of inner corneal layers in early disease and edema of the cornea in advanced disease. Ultrastructural features of FECD include loss and attenuation of endothelial cells, with thickening and excrescences of the underlying basement membrane. These excrescences, called guttae, are the clinical hallmark of FECD and become more numerous with progression of the disease. As the endothelial layer develops confluent guttae in the central cornea, the cells are no longer able to keep the cornea dehydrated and clear (summary by Baratz et al., 2010). Genetic Heterogeneity of Fuchs Endothelial Corneal DystrophyMore common, late-onset forms of FECD have been shown to be caused by mutation in the SLC4A11 gene (OMIM ) on chromosome 20p13 (FECD4 ), in the ZEB1 gene (OMIM ) on chromosome 10p11.2 (FECD6 ), and in the AGBL1 gene (OMIM ) on chromosome 15q25 (FECD8 ).Other loci for late-onset FECD have been identified on chromosomes 13pter-q12.13 (FECD2 ), 18q21.2-q21.32 (FECD3 ), 5q33.1-q35.2 (FECD5 ), and 9p (FECD7 ).

Most common symptoms of CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1; FECD1

• Cataract
• Edema
• Visual loss
• Corneal dystrophy
• Melanoma

SOURCES: OMIM MESH