Genes in dizygote twins with Bowman layer corneal dystrophy

Optometry and Vision Science : Official Publication of the American Academy of Optometry
Yu-Chih HouI-Jong Wang

Abstract

To report a de novo R124C mutation of transforming growth factor β-induced (TGFBI) gene in one of dizygotic twins with corneal dystrophy of the Bowman layer. An 11-year-old boy was one of dizygotic twins and had a history of bilateral blurred vision and recurrent corneal erosion. Examination of the visual acuity demonstrated 20/40 in his each eye. Biomicroscopy showed bilaterally central corneal subepithelial opacities and some dot opacities in the superficial stroma. Anterior segment optical coherence tomography demonstrated most hyperreflective opacities at the subepithelial layer with some interspersed opacities in the superficial stroma. Confocal microscopy revealed irregular hyperreflective materials in the Bowman layer and the superficial stroma. Several rough filaments were found in the middle layer of stroma, corresponding to a feature of amyloid lattice. The corneas of his parents and dizygotic sister were clear. Sequencing of the TGFBI gene revealed an R124C mutation in the affected boy but not in his three healthy family members. A de novo R124C mutation of the TGFBI gene may occur in one of dizygotic twins. Patients with an R124C mutation may have clinical features like corneal dystrophy of the Bowman layer. Confoca...Continue Reading

References

Dec 1, 1979·Clinical Genetics·B BalfourG Munshi
Jan 1, 1981·American Journal of Medical Genetics·A J VaughnA Sommer
Oct 21, 1998·American Journal of Ophthalmology·M OkadaY Tano
May 10, 2006·Human Mutation·Chitra Kannabiran, Gordon K Klintworth
Sep 29, 2011·Investigative Ophthalmology & Visual Science·Yu-Ping HanAndrew J W Huang
Dec 14, 2011·Experimental Eye Research·Henrik KarringJan J Enghild
Nov 21, 2012·Seminars in Ophthalmology·Anita N ShuklaPedram Hamrah

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Citations

Mar 5, 2019·Human Mutation·Valeria KheirDaniel F Schorderet

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