Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa

PURPOSE: To report a case of keratoglobus in a patient with autosomal recessive (AR) cutis laxa. OBSERVATIONS: A 38 year old male presented with decreased vision in both eyes uncorrectable with spectacles and a history of corneal rupture in the left eye from incidental trauma a decade prior. His ocu...

Descripción completa

Detalles Bibliográficos
Autores principales: Mauger, Thomas F., Mundy, Chantelle L., Oostra, Tyler D., Patel, Pratik J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6551565/
https://www.ncbi.nlm.nih.gov/pubmed/31194159
http://dx.doi.org/10.1016/j.ajoc.2019.100477
_version_ 1783424416046120960
author Mauger, Thomas F.
Mundy, Chantelle L.
Oostra, Tyler D.
Patel, Pratik J.
author_facet Mauger, Thomas F.
Mundy, Chantelle L.
Oostra, Tyler D.
Patel, Pratik J.
author_sort Mauger, Thomas F.
collection PubMed
description PURPOSE: To report a case of keratoglobus in a patient with autosomal recessive (AR) cutis laxa. OBSERVATIONS: A 38 year old male presented with decreased vision in both eyes uncorrectable with spectacles and a history of corneal rupture in the left eye from incidental trauma a decade prior. His ocular exam was consistent with keratoglobus. His medical and family history indicated AR cutis laxa. CONCLUSIONS AND IMPORTANCE: We believe that this is the first reported case of keratoglobus associated with cutis laxa.
format Online
Article
Text
id pubmed-6551565
institution National Center for Biotechnology Information
language English
publishDate 2019
publisher Elsevier
record_format MEDLINE/PubMed
spelling pubmed-65515652019-06-10 Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa Mauger, Thomas F. Mundy, Chantelle L. Oostra, Tyler D. Patel, Pratik J. Am J Ophthalmol Case Rep Case Report PURPOSE: To report a case of keratoglobus in a patient with autosomal recessive (AR) cutis laxa. OBSERVATIONS: A 38 year old male presented with decreased vision in both eyes uncorrectable with spectacles and a history of corneal rupture in the left eye from incidental trauma a decade prior. His ocular exam was consistent with keratoglobus. His medical and family history indicated AR cutis laxa. CONCLUSIONS AND IMPORTANCE: We believe that this is the first reported case of keratoglobus associated with cutis laxa. Elsevier 2019-05-30 /pmc/articles/PMC6551565/ /pubmed/31194159 http://dx.doi.org/10.1016/j.ajoc.2019.100477 Text en © 2019 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Mauger, Thomas F.
Mundy, Chantelle L.
Oostra, Tyler D.
Patel, Pratik J.
Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa
title Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa
title_full Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa
title_fullStr Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa
title_full_unstemmed Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa
title_short Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa
title_sort keratoglobus with arcl1b (efemp2 gene) cutis laxa
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6551565/
https://www.ncbi.nlm.nih.gov/pubmed/31194159
http://dx.doi.org/10.1016/j.ajoc.2019.100477
work_keys_str_mv AT maugerthomasf keratoglobuswitharcl1befemp2genecutislaxa
AT mundychantellel keratoglobuswitharcl1befemp2genecutislaxa
AT oostratylerd keratoglobuswitharcl1befemp2genecutislaxa
AT patelpratikj keratoglobuswitharcl1befemp2genecutislaxa

Ejemplares similares