Cloudy Corneas
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
Image from Rajan Eye Care Hospital
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