J Korean Ophthalmol Soc.  2017 Aug;58(8):993-997. 10.3341/jkos.2017.58.8.993.

Two Cases of Pre-descemet Corneal Dystrophy Associated with X-linked Ichthyosis: A Case Report by Genetic Analysis

Affiliations
  • 1Department of Ophthalmology, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Incheon, Korea. leoanzel@catholic.ac.kr
  • 2Department of Ophthalmology and Visual Science, Yeouido St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
  • 3Department of Laboratory Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.

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.
CASE SUMMARY
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.

Keyword

Cornea; Steroid sulfatase gene; X-linked ichthyosis

MeSH Terms

Cornea
Corneal Opacity
Diagnosis
Extremities
Gene Deletion
Humans
Ichthyosis*
Multiplex Polymerase Chain Reaction
Pruritus
Siblings
Skin
Steryl-Sulfatase
Twins, Monozygotic
Steryl-Sulfatase

Figure

  • Figure 1 Histopathological picture of patient's skin. The black arrowheads indicate hyperkeratosis (Hematoxylin-eosin stain; original magnification: ×100).

  • Figure 2 Slit-lamp microscopic photograph of affected patient. (A) Slit-lamp photograph of the cornea in diffuse illumination show no definite corneal lesion. (B) Slit-lamp photograph in slit illumination show diffuse small punctate opacities (red dot line circle) observed in stroma and anterior to Descemet's membrane.

  • Figure 3 All of specular microscopy show normal endothelial cell density and morphology. (A) Twin older brother. (B) Twin younger brother. CD =cell density; SD = standard deviation; CV = coefficient of variation; 6A = percentage of hexagonal cell; AVE = average cell area; MAX = maximum cell area; MIN = minimum cell area; R = right; L = left.

  • Figure 4 The Multiplex ligation-dependent probe amplification (MLPA) analysis of patient. (A) Twin older brother, and (B) Twin younger brother. Left graph (blue graph-patient, red graph-normal control) and right scatter plot (in dot line box) of each case show deletion of STS from exon 1 to exon 10 except exon 3 and contiguous HDHD1A upstream deletion. STS, steroid sulfatase.


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