A novel mutation and in vivo confocal microscopic findings in Fabry disease


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DEĞİRMENCİ C. , YİLMAZ S. , ONAY H. , Palamar M., Ucar S. K. , Kayikcioglu M. , ...Daha Fazla

SAUDI JOURNAL OF OPHTHALMOLOGY, cilt.31, ss.45-47, 2017 (ESCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 31 Konu: 1
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1016/j.sjopt.2016.12.005
  • Dergi Adı: SAUDI JOURNAL OF OPHTHALMOLOGY
  • Sayfa Sayıları: ss.45-47

Özet

Fabry disease is a hereditary, X-linked lysosomal storage disease due to a deficiency of the alpha galactosidase A enzyme. Globotriaosylceramide accumulates in tissues and results in multiorgan dysfunction. The most common ocular finding in Fabry disease is cornea verticillata. Increase in conjunctival vascular tortuosity, and cataract may also be seen. Herein, we demonstrate the in vivo confocal microscopic findings of a genetically proven Fabry disease patient with a novel hemizygous R112L mutation in GLA gene.