Posterior Amorphous Corneal Dystrophy: New Chromosomal Breakpoints in the Small Leucine-Rich Proteoglycan-Coding Region.

Autor:	Basbus FJ; Department of Ophthalmology, 'Hospital de Clínicas,' University of Buenos Aires, Argentina; and., Cremona FA; Department of Genetics, 'Hospital de Clínicas,' University of Buenos Aires, Buenos Aires, Argentina., Lucero Saá F; Department of Genetics, 'Hospital de Clínicas,' University of Buenos Aires, Buenos Aires, Argentina., Chiaradía PA; Department of Genetics, 'Hospital de Clínicas,' University of Buenos Aires, Buenos Aires, Argentina., Francipane L; Department of Genetics, 'Hospital de Clínicas,' University of Buenos Aires, Buenos Aires, Argentina., Menazzi S; Department of Genetics, 'Hospital de Clínicas,' University of Buenos Aires, Buenos Aires, Argentina.
Jazyk:	angličtina
Zdroj:	Cornea [Cornea] 2022 Apr 01; Vol. 41 (4), pp. 491-495.
DOI:	10.1097/ICO.0000000000002961
Abstrakt:	Purpose: The purpose of this study was to report the clinical features and describe the results obtained by multimodal corneal imaging of a patient with novel chromosomal breakpoints of the 12q21.33 locus. Methods: This study was a case report and literature review. Results: A 12-year-old girl presented with visual loss whose examination revealed a best-corrected visual acuity of 20/50 in her right eye and 20/35 in her left eye and corneal flattening and gray sheet-like opacities deep in the stroma. Anterior segment optical coherence tomography and ultrabiomicroscopy showed an evenly distributed hyperreflective line in the posterior stroma. Confocal microscopy revealed enlarged keratocytes and the presence of small reflective deposits from the pre-Descemet line to the endothelium. In addition, a 447-kb deletion that included the small leucine-rich proteoglycan-coding region in locus 12q21.33 was found. She was, therefore, diagnosed with PACD. Conclusions: PACD is a rare genetic disorder of the cornea characterized by gray sheet-like opacification of the posterior stroma in combination with corneal flattening. Confocal microscopy provides histologic segmentation of each corneal layer and shows the degree to which they are affected. New chromosomal breakpoints of a deletion in the small leucine-rich proteoglycan-coding region are hereby reported. PACD may be a contiguous gene syndrome, and further tests are required to identify the exact position responsible for the phenotypic variation. Competing Interests: The authors have no funding or conflicts of interest to disclose. (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.)
Databáze:	MEDLINE
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