Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0344232 (blurred vision)
 2,072 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Gelatinous drop-like corneal dystrophy (GDLD; OMIM 204870) is an autosomal recessive disorder characterized by severe corneal amyloidosis leading to blindness, with an incidence of 1 in 300,000 in Japan. Our previous genetic linkage study localized the gene responsible to a 2.6-cM interval on chromosome 1p. Clinical manifestations, which appear in the first decade of life, include blurred vision, photophobia and foreign-body sensation. By the third decade, raised, yellowish-grey, gelatinous masses severely impair visual acuity, and lamellar keratoplasty is required for most patients. Here we report DNA sequencing, cDNA cloning and mutational analyses of four deleterious mutations (Q118X, 632delA, Q207X and S170X) in M1S1 (formerly TROP2 and GA733-1), encoding a gastrointestinal tumour-associated antigen. The Q118X mutation was the most common alteration in the GDLD patients examined, accounting for 33 of 40 (82.5%) disease alleles in our panel of families. Protein expression analysis revealed aggregation of the mutated, truncated protein in the perinuclear region, whereas the normal protein was distributed diffusely in the cytoplasm with a homogenous or fine granular pattern. Our successful identification of the gene that is defective in GDLD should facilitate genetic diagnosis and potentially treatment of the disease, and enhance general understanding of the mechanisms of amyloidosis.
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PMID:Identification of the gene responsible for gelatinous drop-like corneal dystrophy. 1019 95

Autosomal dominant granular corneal dystrophy is a stromal corneal dystrophy characterized by discrete granular opacities that cause recurrent corneal erosion and blurred vision. Four different corneal dystrophies, including granular dystrophy, are caused by mutations of the BIGH3 gene. We report a case of autosomal dominant granular corneal dystrophy in a 45-year-old woman with bilateral blurred vision and recurrent eye pain since adolescence. Numerous diffuse granular opacities were found in the superficial stroma of the cornea. Her 3 sons had a similar history and clinical presentation. Autosomal dominant granular corneal dystrophy was diagnosed. Mutation analysis by single-strand conformation polymorphism and direct sequencing in 2 of the affected family members revealed R555W mutation in the BIGH3 gene. This independent R555W mutation has been previously found in different ethnic populations including Caucasians and Japanese with granular dystrophy of Groenouw type I. These findings indicate the importance of R555 amino acid in the pathogenesis of autosomal dominant granular corneal dystrophy.
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PMID:An autosomal dominant granular corneal dystrophy family associated with R555W mutation in the BIGH3 gene. 1270 42

Epithelial basement membrane dystrophy, the most common hereditary anterior corneal dystrophy and considered a "category 1" dystrophy in some cases, encompasses microcystic dystrophy and other conditions affecting the epithelial basement membrane. The management of symptomatic epithelial basement membrane dystrophy includes alleviating blurred vision, treating recurrent corneal erosion, or both. Treatment of distorted vision may be as simple as prescribing lubricating drops and/or ointment, and posttrauma corneal erosion is often a limited problem that disappears over time and does not require laser or surgical treatment. This article describes treatment for more severe cases of corneal erosion, which includes mechanical debridement of the loosened epithelium.
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PMID:Recurrent corneal erosions and epithelial basement membrane dystrophy. 2072 47