Cloudy Corneas
๐๐ฐ๐ฏ๐จ๐ฆ๐ฏ๐ช๐ต๐ข๐ญ ๐๐ฆ๐ณ๐ฆ๐ฅ๐ช๐ต๐ข๐ณ๐บ ๐๐ฏ๐ฅ๐ฐ๐ต๐ฉ๐ฆ๐ญ๐ช๐ข๐ญ ๐๐บ๐ด๐ต๐ณ๐ฐ๐ฑ๐ฉ๐บ (๐๐๐๐)โฃ โฃ
โ Bilateral cloudy cornea at birth/perinatallyโฃ โฃ
โ Earlier classified as CHED 1 (AD) and CHED 2 (AR) - now CHED 1 has been eliminated by the International Classification of Corneal Dystrophies (IC3D)โฃ โฃ
โ Chromosome 20p13 - SLCA411 gene - transmembrane protein from bicarbonate transporters family - works as a pump on the stromal side of endothelial cellsโฃ โฃ
โ Degeneration of endothelial cells โ build up of fluid in corneal stromaโฃ โฃ
โ Harboyan syndrome - sensorineural hearing loss with corneal opacification associated with SLCA411 mutation
๐๐ข๐ ๐ง๐ฌ:โฃ โฃ
โ Reduced vision โ amblyopiaโฃ
โ Nystagmusโฃ โฃ
๐ ๐ข๐ง๐๐ข๐ง๐ ๐ฌ:โฃ โฃ
โ Diffuse corneal edema and corneal thickeningโฃ
โ Thickening of Descemetโs membraneโฃ
โ Blue gray ground glass appearance to total corneal opacificationโฃ โฃ
Important to differentiate CHED from Congenital glaucomaโฃ โฃ
๐๐ถ๐ณ๐จ๐ช๐ค๐ข๐ญ ๐ฎ๐ข๐ฏ๐ข๐จ๐ฆ๐ฎ๐ฆ๐ฏ๐ต - Penetrating Keratoplasty / Endothelial Keratoplastyโฃ โฃ
www.ophthalmobytes.comโฃ โฃ
Image from Rajan Eye Care Hospital
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