Two Cases of Pre-descemet Corneal Dystrophy Associated with X-linked Ichthyosis: A Case Report by Genetic Analysis
Journal of the Korean Ophthalmological Society
;
: 993-997, 2017.
Artigo
em Coreano
| WPRIM
| ID: wpr-194874
ABSTRACT
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. CASESUMMARY:
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. 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Prurido
/
Pele
/
Gêmeos Monozigóticos
/
Deleção de Genes
/
Córnea
/
Opacidade da Córnea
/
Irmãos
/
Esteril-Sulfatase
/
Diagnóstico
/
Extremidades
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Ophthalmological Society
Ano de publicação:
2017
Tipo de documento:
Artigo
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