Posters

Two cases of pre-Descemet's corneal dystrophy associated with X-linked ichthyosis: a case report by genetic analysis

Poster Details

First Author: J.Jeung SOUTH KOREA

Co Author(s):    H. Hwang   S. Kim   K. Kang              

Abstract Details

Purpose:

To report the first case of steroid sulfatase (STS) gene deletion, confirmed by multiplex ligation-dependent probe amplification (MLPA) analysis in identical twins with pre-Descemet corneal dystrophy associated with X-linked ichthyosis.

Setting:

1Department of Ophthalmology, Incheon St. Mary’s Hospital, The Catholic University of Korea, Incheon, Korea 2Department of Ophthalmology, SahmYook Medical Center, Seoul, Korea

Methods:

19-year old identical twin brothers with itching senses and hereditary thick scaly skin of the extremity and trunk visited our dermatologic clinic. Upon visiting, an ophthalmologic consultation with anterior segment examination showed diffuse punctate corneal opacities in the pre-Descemet layer.

Results:

On MLPA analysis of the identical twin brothers, a definitive diagnosis of X-linked ichthyosis was made by identifying STS gene deletion.

Conclusions:

Identification of the deletion and mutation of the involved gene using gene analysis can provide insight to diagnosis and clinical characteristics of X-linked ichthyosis.

Financial Disclosure:

None