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

Sara Fathi-Nieto; Rodrigo Butrón-Ruiz; Enrique García-Soler; Ana Hervás-Ontiveros; Amparo Ortiz-Seller

doi:10.4103/ojo.ojo_201_21

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

Oman J Ophthalmol. 2022 Nov 2;15(3):385-388. doi: 10.4103/ojo.ojo_201_21. eCollection 2022 Sep-Dec.

Authors

Sara Fathi-Nieto¹, Rodrigo Butrón-Ruiz¹, Enrique García-Soler¹, Ana Hervás-Ontiveros¹, Amparo Ortiz-Seller¹

Affiliation

¹ Department of Ophthalmology, University and Polytechnic La Fe Hospital, Valencia, Spain.

Abstract

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 without trauma, bilateral cataracts, and sensorineural hearing loss. Mutations in XYLT2 gene were detected, and the diagnosis of SOS was made. At the age of 8, the patient presented with progressive vision loss. Slit-lamp examination revealed inferior steepening, apical scarring, and thinning of the cornea. Due to keratoconus suspicion, a corneal tomography was done, confirming the diagnosis of keratoconus. We present the first case of bilateral keratoconus in a patient with SOS.

Keywords: Cataract; corneal ectasia; keratoconus; spondyloocular syndrome; xylosyltransferase II.

Publication types

Case Reports