Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa

Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa

PURPOSETo report a case of keratoglobus in a patient with autosomal recessive (AR) cutis laxa. OBSERVATIONSA 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...

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Veröffentlicht in:American journal of ophthalmology case reports 2019, Vol.15, p.100477-100477
Hauptverfasser: Mauger, Thomas F, Mundy, Chantelle L, Oostra, Tyler D, Patel, Pratik J
Format: Report
Sprache:eng
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Zusammenfassung:PURPOSETo report a case of keratoglobus in a patient with autosomal recessive (AR) cutis laxa. OBSERVATIONSA 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 IMPORTANCEWe believe that this is the first reported case of keratoglobus associated with cutis laxa.
ISSN:2451-9936
DOI:10.1016/j.ajoc.2019.100477