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cataract 17 multiple types

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB1 gene.
Uniprot Description An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT17 includes nuclear and pulverulent cataracts, among others. Nuclear cataracts affect the central nucleus of the eye, are often not highly visually significant. The density of the opacities varies greatly from fine dots to a dense, white and chalk-like, central cataract. The condition is usually bilateral. Nuclear cataracts are often combined with opacified cortical fibers encircling the nuclear opacity, which are referred to as cortical riders. Pulverulent cataracts are characterized by a dust-like, 'pulverised' appearance of the opacities which can be found in any part of the lens.
Mondo Term and Equivalent IDs
MONDO:0012688:  cataract 17 multiple types
MESH:C566923: 
UMLS:C1969062: