- MSc, Biochemical and Biomedical Sciences, The Chinese University of Hong Kong
- BEng, Bioengineering, Shandong University of Science and Technology
- BA, English, Shandong University of Science and Technology
- Genetics of inherited eye diseases
- Molecular biology of Sclerocornea
(1) Molecular biology of Sclerocornea
Sclerocornea is an abnormality of opacity at the peripheral part or the entire surface of a cornea. Those patients with sclerocornea affecting the whole corneal surface area usually suffer complete blindness. And those with peripheral sclerocornea would still have visual field restriction. Currently there is no medication to treat sclerocornea. Corneal transplantation is the only treatment to restore vision. Given the limited supply of cornea for transplantation, there is a need to understand the disease mechanism of sclerocornea for the development of alternative treatments.
Recently we identified a Chinese family showing peripheral sclerocornea-like characteristics in six individuals over three generations out of nineteen family members. Apart from the sclerocornea-like characteristics, the affected members also have thinner central cornea. We are currently studying the gene mutations that are commonly shared between the affected members within this family.
Figure 1. Pedigree of the family showing autosomal dominant inherited peripheral sclerocornea-like phenotypes. Closed squares and circles represent affected males and female, respectively. Open squares and circles represent unaffected male and female, respectively. Numbers are given to the squares or circles representing subjects who were examined in this study.