Lisa Lagrou1, Julian Midgley, Kenneth Gerald Romanchuk. 1. *Ophthalmology and †Nephrology, Alberta Children's Hospital, University of Calgary, Calgary, Alberta, Canada; and ‡Pediatric Ophthalmology, Kellogg Eye Center, University of Michigan, Ann Arbor, MI.
Abstract
PURPOSE: To describe the slit-lamp appearance and corneal confocal microscopy of autosomal dominant punctiform and polychromatophilic pre-Descemet corneal dystrophy in 3 members of the same family. METHODS: Slit-lamp examination of a 9-year-old boy showed bilateral polychromatophilic corneal opacities in a pre-Descemet membrane location evenly deposited limbus to limbus, both horizontally and vertically, with an intervening clear cornea. The corneal endothelium was normal on corneal confocal microscopy, with hyperreflective opacities of various sizes located pre-Descemet membrane. Slit-lamp examination of the patient's father and brother revealed identical crystalline deposition in the pre-Descemet corneal stroma. The remainders of the eye examinations were otherwise normal in all 3 individuals, and all were asymptomatic. RESULTS: The general physical examination and laboratory investigations of the patient were all normal, as were the laboratory investigations of the other 2 family members. There was no progression in the corneal findings over 6 months of follow-up. CONCLUSIONS: These patients likely illustrate a rare autosomal dominant pre-Descemet crystalline keratopathy that has been reported only once previously.
PURPOSE: To describe the slit-lamp appearance and corneal confocal microscopy of autosomal dominant punctiform and polychromatophilic pre-Descemet corneal dystrophy in 3 members of the same family. METHODS: Slit-lamp examination of a 9-year-old boy showed bilateral polychromatophilic corneal opacities in a pre-Descemet membrane location evenly deposited limbus to limbus, both horizontally and vertically, with an intervening clear cornea. The corneal endothelium was normal on corneal confocal microscopy, with hyperreflective opacities of various sizes located pre-Descemet membrane. Slit-lamp examination of the patient's father and brother revealed identical crystalline deposition in the pre-Descemet corneal stroma. The remainders of the eye examinations were otherwise normal in all 3 individuals, and all were asymptomatic. RESULTS: The general physical examination and laboratory investigations of the patient were all normal, as were the laboratory investigations of the other 2 family members. There was no progression in the corneal findings over 6 months of follow-up. CONCLUSIONS: These patients likely illustrate a rare autosomal dominant pre-Descemet crystalline keratopathy that has been reported only once previously.
Authors: María Angélica Henríquez-Recine; Kelly Sonia Marquina-Lima; Elena Vallespín-García; Sixto García-Miñaur; José Manuel Benitez Del Castillo; Ana Boto de Los Bueis Journal: Graefes Arch Clin Exp Ophthalmol Date: 2018-05-04 Impact factor: 3.117
Authors: Jorge L Alió Del Barrio; Doug D Chung; Olena Al-Shymali; Alice Barrington; Kavya Jatavallabhula; Vinay S Swamy; Pilar Yébana; Maria Angélica Henríquez-Recine; Ana Boto-de-Los-Bueis; Jorge L Alió; Anthony J Aldave Journal: Am J Ophthalmol Date: 2019-11-27 Impact factor: 5.258