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J. Lee, J. Kim, D. Lee, E. Chung, T. Chung; Novel Decorin Gene Mutation in Congenital Hereditary Stromal Dystrophy. Invest. Ophthalmol. Vis. Sci. 2009;50(13):5498.
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Congenital hereditary stromal dystrophy(CHSD) of the cornea is a rare hereditary disease which is inherited in autosomal dominant fashion. We first report a case of CHSD with novel mutation of Decorin gene which is not reported yet.
43-year old male presented with decreased vision of left eye, started 7 years ago. In ophthalmic examination. his corrected visual acuity was 0.4 in the right eye, and 1.0 in the left, stromal opacities were observed in both eyes. Penetrating keratoplasty was done for improvement of his vision and corneal button was examined by light and electron microscopy. For DNA analysis, the blood sample was obtained from the related family members.
Pre-operative corneal thickness showed 454 um in the right eye and 649 in the left. Endothelial changes are found with indeterminate forms in the right eye because of stromal opacity and 3906-endothelial cell counts were calculated in the left. After penetrating keratoplasty of the right eye, the histopathologic examination showed intact corneal endothelium and Bowman’s membrane. In contrast, the stroma demonstrated abnormal alternating pattern of dense and loose collagen fibers.The family consisted of a mother and her son, both suffering from congenital hereditary stromal dystrophy, other family members were all healthy. In both individuals, a single base pair point mutation (c.1036T>G) in the coding sequence of the Decorin gene was demonstrated, completely different from the previous reported single base pair deletion (c.941delC).
We experienced a case with congenital corneal opacification and performed genetic studies in his family members. The novel Decorin gene mutation was seen in the patients himself and his mother. This is new Decorin gene mutation unlike previously reported Decorin gene mutation
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