Familial presence of early onset Fuchs' corneal endothelial dystrophy, a report of two rare cases.

نویسندگان

  • Tanveer Anjum Chaudhry
  • Amina Adil
  • Faraz Kazmi
  • Khabir Ahmad
چکیده

A 15-year-old girl presented to our clinic with a history of gradual loss of vision and photosensitivity. She had bilateral corneal haze with stromal oedema. Her best-corrected visual acuity was 20/400 in the right eye and 20/200 in the left. She underwent penetrating keratoplasty in both eyes. Corneal histopathology revealed a pattern similar to Fuchs' endothelial dystrophy. The graft settled well and stayed clear while the vision kept improving. Her brother also presented with similar symptoms.

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منابع مشابه

No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy.

PURPOSE To investigate the genetic basis of late-onset, familial Fuchs endothelial corneal dystrophy (FECD) through screening of the COL8A1 and COL8A2 genes, in which mutations have been associated with both early and late-onset, familial and sporadic FECD. METHODS DNA extraction, PCR amplification, and direct sequencing of the COL8A1 and COL8A2 genes was performed in affected and unaffected ...

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Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy.

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Transparency of the human cornea is necessary for vision. Fuchs Endothelial Corneal Dystrophy (FECD) is a bilateral, heritable degeneration of the corneal endothelium, and a leading indication for corneal transplantation in developed countries. While the early onset, and rarer, form of FECD has been linked to COL8A2 mutations, the more common, late onset form of FECD has genetic mutations linke...

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عنوان ژورنال:
  • JPMA. The Journal of the Pakistan Medical Association

دوره 62 7  شماره 

صفحات  -

تاریخ انتشار 2012