Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The prevalence and mode of inheritance of major genetic eye diseases have been investigated in China since the establishment of the Section of Ophthalmic Genetics of the Chinese Society of Genetics. Mass screening of genetic eye diseases has been undertaken in many districts in China, covering more than 700,000 people, and more than 5000 pedigrees of genetic eye diseases have been collected and analysed all over China. Based on these data, the prevalence and mode of inheritance of dyschromatopsia, degenerative myopia, retinitis pigmentosa, congenital ptosis, congenital microphthalmos, congenital cataract, congenital glaucoma, Leber's optic atrophy, corneal dystrophy, congenital nystagmus, coloboma of the eye, congenital aniridia, retinoblastoma, macular dystrophy, simple myopia, primary glaucoma, and strabismus have been investigated, and the results are presented.
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PMID:Prevalence and mode of inheritance of major genetic eye diseases in China. 350 Mar 13

Aniridia is a congenital developmental anomaly of the eye that usually affects both eyes. The development of the iris, cornea, lens, angle, optic nerve and retina is disturbed. Aniridia is most often a hereditary disease with an autosomal dominant, rarely autosomal recessive inheritance, but sporadic cases are also possible. The vision function in aniridia has been observed to have a wide range from blindness to a normal visual acuity. The more serious cases where blindness occurs has been due not specifically to the aniridia but to associated conditions like cataract, glaucoma, foveal hypoplasia, corneal dystrophy, nystagmus. Aniridia could be associated with the mental retardation. Some of the sporadic cases develop Wilms' tumor, frequently as part of the WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation).
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PMID:[Aniridia]. 1208 63

Congenital hereditary endothelial dystrophy (CHED) is a heritable, bilateral corneal dystrophy characterized by corneal opacification and nystagmus. We describe seven different mutations in the SLC4A11 gene in ten families with autosomal recessive CHED. Mutations in SLC4A11, which encodes a membrane-bound sodium-borate cotransporter, cause loss of function of the protein either by blocking its membrane targeting or nonsense-mediated decay.
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PMID:Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). 1676 1