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The genetic investigation of hereditary cataract in a Taiwanese family

Poster Details

First Author: Y.Lee TAIWAN

Co Author(s):    J. Yeh                    

Abstract Details

Purpose:

To report a point mutation of CRYBB2 in autosomal dominant cerulean cataract.

Setting:

Genetic investigation of a 3-generation, 22-member family with autosomal dominant cerulean cataract in Buddhist Tzu Chi General Hospital.

Methods:

Thirteen of the twenty-two family members were affected. The onset of disease was in the second or third decade of life. Blood were drawn from 21 members, and DNA were extracted using standard protocols. Whole exome sequencing, single nucleotide polymorphism and linkage analysis were performed.

Results:

Linkage analysis revealed that LOD score was 3.209 for D22S315 and 3.334 for D22S1154. SNP and sequencing analysis showed CRYBB2 mutation (Q155X).

Conclusions:

CRYBB2 mutation (Q155X) results in cerulean cataract with onset of disease in the second or third decade of life.

Financial Disclosure:

NONE

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