An association between bilateral keratoconus in a patient with spondyloocular syndrome and xylosyltransferase II gene mutation

An association between bilateral keratoconus in a patient with spondyloocular syndrome and xylosyltransferase II gene mutation

Spondyloocular syndrome (SOS) is a rare autosomal-recessive disorder. Since 2015, SOS has been linked to mutations in xylosyltransferase II (XYLT2) locus. Phenotypic features could affect multiple systems, such as sight, hearing, or bones. Herein, we report a case of SOS with multiple bone fractures...

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Bibliographic Details
Main Authors: Sara Fathi-Nieto, Rodrigo Butrón-Ruiz, Enrique García-Soler, Ana Hervás-Ontiveros, Amparo Ortiz-Seller
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2022-01-01
Series:Oman Journal of Ophthalmology
Subjects:
cataract
corneal ectasia
keratoconus
spondyloocular syndrome
xylosyltransferase ii
Online Access:http://www.ojoonline.org/article.asp?issn=0974-620X;year=2022;volume=15;issue=3;spage=385;epage=388;aulast=Fathi-Nieto

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http://www.ojoonline.org/article.asp?issn=0974-620X;year=2022;volume=15;issue=3;spage=385;epage=388;aulast=Fathi-Nieto

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