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Reis-Bücklers corneal dystrophy is a disease of the eye, a rare corneal dystrophy of unknown cause, in which the Bowman's layer of the cornea undergoes disintegration. The disorder is inherited in an autosomal dominant fashion, and is associated with mutations in the gene TGFB1 .
Lattice dystrophy starts as fine branching linear opacities in Bowman's layer in the central area and spreads to the periphery. Recurrent corneal erosions may occur. The hallmark of Schnyder corneal dystrophy is the accumulation of crystals within the corneal stroma which cause corneal clouding typically in a ring-shaped fashion. [citation needed]
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]
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.
As a progressive, chronic condition, signs and symptoms of Fuchs dystrophy gradually progress over decades of life, starting in middle age. Early symptoms include blurry vision upon wakening which improves during the morning, [2] as fluid retained in the cornea is unable to evaporate through the surface of the eye when the lids are closed overnight.
Occult macular dystrophy (OMD) is a rare inherited degradation of the retina, characterized by progressive loss of function in the most sensitive part of the central retina , the location of the highest concentration of light-sensitive cells (photoreceptors) but presenting no visible abnormality.
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.
Oculopharyngeal muscular dystrophy (OPMD) is a rare form of muscular dystrophy with symptoms generally starting when an individual is 40 to 50 years old. It can be autosomal dominant neuromuscular disease or autosomal recessive. The most common inheritance of OPMD is autosomal dominant, which means only one copy of the mutated gene needs to be ...