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Corneal dystrophy is a group of rare hereditary disorders characterised by bilateral abnormal deposition of substances in the transparent front part of the eye called the cornea. [ 1 ] [ 2 ] [ 3 ] Signs and symptoms
Posterior polymorphous corneal dystrophy (PPMD, PPCD) [15]: PPCD, also known as Schlichting dystrophy, is an autosomal dominant disorder of the corneal endothelium and Descemet’s membrane. It is usually present in the second or third decade of life.
Epithelial basement membrane dystrophy (EBMD) is a disorder of the eye that can cause pain and dryness. EBMD, also known as map-dot-fingerprint dystrophy and Cogan microcystic epithelial dystrophy , is a corneal epithelial disease that may result in recurrent corneal erosions , irregular corneal astigmatism , and decreased vision.
Fuchs dystrophy, also referred to as Fuchs endothelial corneal dystrophy (FECD) and Fuchs endothelial dystrophy (FED), is a slowly progressing corneal dystrophy that usually affects both eyes and is slightly more common in women than in men. Although early signs of Fuchs dystrophy are sometimes seen in people in their 30s and 40s, the disease ...
Retinitis pigmentosa (RP) is a member of a group of genetic disorders called inherited retinal dystrophy (IRD) that cause loss of vision. [1] Symptoms include trouble seeing at night and decreasing peripheral vision (side and upper or lower visual field). [1] As peripheral vision worsens, people may experience "tunnel vision". [1]
Granular corneal dystrophy is caused by a mutation in the TGFBI gene, located on chromosome 5q31. [4] The disorder is inherited in an autosomal dominant manner. [5] This indicates that the defective gene responsible for the disorder is located on an autosome (chromosome 5 is an autosome), and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has ...
Dystrophy of the light-sensing cells of the eye may also occur in the rods as well, or in both the cones and the rods. A type of rod-cone dystrophy—where rod function decline is typically earlier or more pronounced than cone dystrophy—has been identified as a relatively common characteristic of Bardet–Biedl Syndrome .
Coloboma in the right eye of a 10-month-old child. There are two categories in which the signs of congenital blindness can be classified. The first category pertains to consistently poor vision, such as not displaying preferential looking when presented with high-contrast visual stimuli. [6]
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