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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2022-01-01
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| Series: | Oman Journal of Ophthalmology |
| Subjects: | |
| Online Access: | http://www.ojoonline.org/article.asp?issn=0974-620X;year=2022;volume=15;issue=3;spage=385;epage=388;aulast=Fathi-Nieto |
| _version_ | 1811180208088154112 |
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| author | Sara Fathi-Nieto Rodrigo Butrón-Ruiz Enrique García-Soler Ana Hervás-Ontiveros Amparo Ortiz-Seller |
| author_facet | Sara Fathi-Nieto Rodrigo Butrón-Ruiz Enrique García-Soler Ana Hervás-Ontiveros Amparo Ortiz-Seller |
| author_sort | Sara Fathi-Nieto |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-11T06:46:22Z |
| format | Article |
| id | doaj.art-e68a371ac8274e2abf947a5ec9d2c45d |
| institution | Directory Open Access Journal |
| issn | 0974-620X |
| language | English |
| last_indexed | 2024-04-11T06:46:22Z |
| publishDate | 2022-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Oman Journal of Ophthalmology |
| spelling | doaj.art-e68a371ac8274e2abf947a5ec9d2c45d2022-12-22T04:39:20ZengWolters Kluwer Medknow PublicationsOman Journal of Ophthalmology0974-620X2022-01-0115338538810.4103/ojo.ojo_201_21An association between bilateral keratoconus in a patient with spondyloocular syndrome and xylosyltransferase II gene mutationSara Fathi-NietoRodrigo Butrón-RuizEnrique García-SolerAna Hervás-OntiverosAmparo Ortiz-SellerSpondyloocular 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.http://www.ojoonline.org/article.asp?issn=0974-620X;year=2022;volume=15;issue=3;spage=385;epage=388;aulast=Fathi-Nietocataractcorneal ectasiakeratoconusspondyloocular syndromexylosyltransferase ii |
| spellingShingle | Sara Fathi-Nieto Rodrigo Butrón-Ruiz Enrique García-Soler Ana Hervás-Ontiveros Amparo Ortiz-Seller An association between bilateral keratoconus in a patient with spondyloocular syndrome and xylosyltransferase II gene mutation Oman Journal of Ophthalmology cataract corneal ectasia keratoconus spondyloocular syndrome xylosyltransferase ii |
| title | An association between bilateral keratoconus in a patient with spondyloocular syndrome and xylosyltransferase II gene mutation |
| title_full | An association between bilateral keratoconus in a patient with spondyloocular syndrome and xylosyltransferase II gene mutation |
| title_fullStr | An association between bilateral keratoconus in a patient with spondyloocular syndrome and xylosyltransferase II gene mutation |
| title_full_unstemmed | An association between bilateral keratoconus in a patient with spondyloocular syndrome and xylosyltransferase II gene mutation |
| title_short | An association between bilateral keratoconus in a patient with spondyloocular syndrome and xylosyltransferase II gene mutation |
| title_sort | association between bilateral keratoconus in a patient with spondyloocular syndrome and xylosyltransferase ii gene mutation |
| topic | cataract corneal ectasia keratoconus spondyloocular syndrome xylosyltransferase ii |
| url | 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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