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Both the familial type and Fish-eye disease are autosomal recessive disorders caused by mutations of the LCAT gene located on chromosome 16q22.1, which is the long (q) arm of chromosome 16 a position 22.1. [7] Both diseases are very rare with ~70 reported cases of familial LCAT deficiency [9] and ~30 cases of fish-eye disease. [10]
There are many diseases known to cause ocular or visual changes. Diabetes , for example, is the leading cause of new cases of blindness in those aged 20–74, with ocular manifestations such as diabetic retinopathy and macular edema affecting up to 80% of those who have had the disease for 15 years or more.
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
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.
Iridocorneal endothelial (ICE) syndromes are a spectrum of diseases characterized by slowly progressive abnormalities of the corneal endothelium and features including corneal edema, iris distortion, and secondary angle-closure glaucoma. [1] [2] [3] ICE syndromes are predominantly unilateral and nonhereditary.
Macular corneal dystrophy, also known as Fehr corneal dystrophy, is a rare pathological condition affecting the stroma of cornea first described by Arthur Groenouw in 1890. [1] Signs are usually noticed in the first decade of life and progress afterwards, with opacities developing in the cornea and attacks of pain.
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