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Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa
Thomas F Mauger1, Chantelle L Mundy2, Tyler D Oostra2
1West Virginia University Department of Ophthalmology and Visual Science, 1 Medical Center Drive, Morgantown West, Virginia, 26506, USA.
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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