Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa. uri icon

Overview

abstract

  • 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.

publication date

  • May 30, 2019

Identity

PubMed Central ID

  • PMC6551565

Scopus Document Identifier

  • 85066449288

Digital Object Identifier (DOI)

  • 10.1016/j.ajoc.2019.100477

PubMed ID

  • 31194159

Additional Document Info

volume

  • 15