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 mutationโฃ
โฃ 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 #ophthalmology #ophthal #cornea #cornealdystrophy #CHED #doctor #health #medical #vision #education #optometry #medicalstudent #optometrist #medicine #eye #ophtho #ophthalmologist #ophthalmo #med #medicaleducation #ophthalmologyresident #ophthalmologyresidency#ophthalmologyresidency