𝘊𝘰𝘯𝘨𝘦𝘯𝘪𝘵𝘢𝘭 𝘏𝘦𝘳𝘦𝘥𝘪𝘵𝘢𝘳𝘺 𝘌𝘯𝘥𝘰𝘵𝘩𝘦𝘭𝘪𝘢𝘭 𝘋𝘺𝘴𝘵𝘳𝘰𝘱𝘩𝘺 (𝘊𝘏𝘌𝘋) ● Bilateral cloudy cornea at birth/perinatally ● Earlier classified as CHED 1 (AD) and CHED 2 (AR) - now CHED 1 has been eliminated by the International Classification of Corneal Dystrophies (IC3D) ● Chromosome 20p13 - SLCA411 gene - transmembrane protein from bicarbonate transporters family - works as a pump on the stromal side of endothelial cells ● Degeneration of endothelial cells → build up of fluid in corneal stroma ● Harboyan syndrome - sensorineural hearing loss with corneal opacification associated with SLCA411 mutation
𝐒𝐢𝐠𝐧𝐬: ● Reduced vision → amblyopia ● Nystagmus 𝐅𝐢𝐧𝐝𝐢𝐧𝐠𝐬: ● Diffuse corneal edema and corneal thickening ● Thickening of Descemet’s membrane ● Blue gray ground glass appearance to total corneal opacification Important to differentiate CHED from Congenital glaucoma 𝘚𝘶𝘳𝘨𝘪𝘤𝘢𝘭 𝘮𝘢𝘯𝘢𝘨𝘦𝘮𝘦𝘯𝘵 - Penetrating Keratoplasty / Endothelial Keratoplasty www.ophthalmobytes.com 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