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...

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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
Descripción
Sumario: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.

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