논문KCI 등재
Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing
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주제분류의학일반
초록
A 3-year-old girl presented with congenital orbital fibrosis. We performed molecular genetic analysis by whole exome and mitochondrialgenome sequencing. No pathologic mutation was identified in the present case. To our best knowledge, this study presents the first report on the findings of mutational analysis of a patient with congenital orbital fibrosis.
Abstract
A 3-year-old girl presented with congenital orbital fibrosis. We performed molecular genetic analysis by whole exome and mitochondrialgenome sequencing. No pathologic mutation was identified in the present case. To our best knowledge, this study presents the first report on the findings of mutational analysis of a patient with congenital orbital fibrosis.
참고문헌 (8)
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- Li Y, "Congenital orbital fibrosis associated with fibrosis of extraocular muscle", BMJ Case Rep, 2012, pp.bcr2012006~ (2012)
- Hertle RW, "Congenital unilateral fibrosis, blepharoptosis, and enophthalmos syndrome", Ophthalmology, 99, pp.347~355 (1992)
- Yazdani A, "Classification and surgical management of patients with familial and sporadic forms of congenital fibrosis of the extraocular muscles", Ophthalmology, 111, pp.1035~1042 (2004)
- Heidary G, "Congenital fibrosis of the extraocular muscles", Semin Ophthalmol, 23, pp.3~8 (2008)
- Effron L, "Congenital unilateral orbital fibrosis with suspected prenatal orbital penetration", J Pediatr Ophthalmol Strabismus, 22, pp.133~136 (1985)
- Athanasiov PA, "Unilateral orbital fibrosis with blepharoptosis and enophthalmos", Ophthal Plast Reconstr Surg, 24, pp.156~158 (2008)
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