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http://dx.doi.org/10.1016/j.jcjo.2017.05.009 | DOI Listing |
J Fr Ophtalmol
June 2024
Fernández-Vega Ophthalmological Institute, 34 Drs Fernández-Vega AV, 33012 Oviedo, Spain. Electronic address:
Ocul Surf
July 2023
Lions Eye Institute, Perth, WA, Australia; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, WA, Australia. Electronic address:
The ocular surface, comprised of the corneal and conjunctival epithelium, innervation system, immune components, and tear-film apparatus, plays a key role in ocular integrity as well as comfort and vision. Gene defects may result in congenital ocular or systemic disorders with prominent ocular surface involvement. Examples include epithelial corneal dystrophies, aniridia, ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome, xeroderma pigmentosum (XP), and hereditary sensory and autonomic neuropathy.
View Article and Find Full Text PDFArq Bras Oftalmol
May 2023
Noor Ophthalmology Research Center, Noor Eye Hospital, Tehran, Iran.
The patient was a 26-year-old woman who had manifest refraction and uncorrected and corrected distance visual acuities of -7.00 × -4.50 at 175°, 20/400, and 20/25, respectively, in the right eye, and -3.
View Article and Find Full Text PDFCornea
March 2021
Fundació de Recerca de l'Institut de Microcirurgia Ocular, Barcelona, Spain.
Purpose: This study aims to clinically and genetically report a case of coexisting Meesmann corneal dystrophy (MECD) and pseudo-unilateral lattice corneal dystrophy (LCD).
Methods: Clinical characterization was supported by a complete ophthalmological evaluation, including visual acuity measurement and slit-lamp examination. Molecular diagnosis was performed by whole-exome sequencing analyzing the gelsolin, keratin K3 (KRT3), keratin K12, and transforming growth factor-beta-induced genes.
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