Abstract
BackgroundKeratoconus (KC) is usually bilateral, noninflammatory progressive corneal ectasia in which the cornea becomes progressively thin and conical, resulting in myopia, irregular astigmatism, and corneal scarring.MethodsEight families characterized by consanguineous marriages and/or multiple keratoconic individuals were examined genetically. Whole exome sequencing was done as trio or quadro per family. The output of the filtration procedure, based on minor allele frequency (MAF) less than 0.01 for homozygous variants and MAF equals 0 for heterozygous variants, is 22 missense variants.ResultsBased on the gene/protein function five candidate variants were highlighted in four families. Two variants were highlighted in one family within the genes MYOF and STX2, and one variant is highlighted in each of the other three families within the genes: COL6A5, ZNF676 and ZNF765.ConclusionThis study is one of the very rare that highlights genetic variants in association with KC.
Highlights
Keratoconus (KC) is usually bilateral, noninflammatory progressive corneal ectasia in which the cornea becomes progressively thin and conical, resulting in myopia, irregular astigmatism, and corneal scarring
Variants located in genes reported with non-ocular Online Mendelian Inheritance In Man (OMIM) disease were excluded because we aim to identify rare variants in association with nonsyndromic KC (Fig. 1)
Four variants are homozygous in four families: KC003, KC004, KC010 and KC011 and 18 variants are heterozygous in five families: KC001(two variants), KC003 KC005, KC007, KC003 Distantly related parents in this family have two keratoconic progeny (Fig. 2b)
Summary
Keratoconus (KC) is usually bilateral, noninflammatory progressive corneal ectasia in which the cornea becomes progressively thin and conical, resulting in myopia, irregular astigmatism, and corneal scarring. Methods: Eight families characterized by consanguineous marriages and/or multiple keratoconic individuals were examined genetically. Results: Based on the gene/protein function five candidate variants were highlighted in four families. Keratoconus (KC) is sometimes bilateral, noninflammatory progressive corneal ectasia during which the cornea becomes progressively thin and conical, leading to myopia, irregular astigmatism, and corneal scarring. Patients with KC have cone shaped cornea ( the name keratoconus, derived from the Greek word for cornea (‘kerato’) and cone shaped (‘conus’) It usually arises in the teenage years and progresses, eventually it stabilizes in the 3rd/4th decades [1]. While the prevalence of KC in Jordan is unknown it is known that the severity of KC is related to the consanguineous marriages. In Jordan consanguineous marriage ranges between 25.5% in the capital Amman to 52.1% in Irbid (www.consang.net), and KC is estimated
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