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⁣ ⁣ 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

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