Schnyder씨 결정각막이상증 가족의 UBIAD1 유전자의 N102S 돌연변이

다국어 초록 (Multilingual Abstract)

Purpose: Schnyder crystalline corneal dystrophy (SCCD) is an autosomal dominant disease characterized by progressive central corneal opacification and premature development of peripheral arcus in the cornea. This disease results from a point mutation of UBIAD1 in chromosome 1p34-36. Until now, 15 different mutations of UBIAD1 gene on chromosome 1p34-36 have been reported for Schnyder crystalline corneal dystrophy. More point mutations are expected to be added to the list in the future. Schnyder crystalline corneal dystrophy is a rare disease, with only three reported cases in Korea, although there has been no report of a genetically confirmed case of the disease. Case summary: We encountered six patients with an N102S mutation of UBIAD1, who are from a family of two generation with 12 family members. Genetic confirmation for Schnyder crystalline corneal dystrophy was performed on these patients. This was the first report of a genetic confirmation of Schnyder crystalline corneal dystrophy in Korea. We will discuss our cases along with a review of the related literature. J Korean Ophthalmol Soc 2010;51(3):440-446

참고문헌 (Reference)

1 Vesaluoma MH, "vivo confocal microscopy of a family with Schnyder crystalline corneal dystrophy" 106 : 944-951, 1999

2 Weiss JS, "Visual morbidity in thirty-four families with Schnyder crystalline corneal dystrophy (an American Ophthalmological Society thesis)" 105 : 616-648, 2007

3 Kim HB, "Two Cases of Hereditary Crystaline Corneal Dystrophy of Schnyder" 14 : 387-391, 1973

4 Shearman AM, "The gene for schnyder's crystalline corneal dystrophy maps to human chromosome 1p34.1-p36" 5 : 1667-1672, 1996

5 Lisch W, "Schnyder's dystrophy. Progression and metabolism" 7 : 45-56, 1986

6 Riebeling P, "Schnyder's crystalline cornealdystrophy. Further narrowing of the linkage interval at chromosome 1p34.1-p36?" 100 : 979-983, 2003

7 Brownstein S, "Schnyder's crystalline corneal dystrophy in association with hyperlipoproteinemia: histopathological and ultrastructural findings" 26 : 273-279, 1991

8 Weiss JS, "Schnyder crystalline dystrophy sine crystals. Recommendation for a revision of nomenclature" 103 : 465-473, 1996

9 Herring JH, "Phototherapeutic keratectomy for Schnyder's central crystalline dystrophy" 15 : 489-, 1999

10 Orr A, "Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy" 2 : e685-, 2007

11 Weiss JS, "Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy" 48 : 5007-5012, 2007

12 WF S, "Mitteilung über einen neuen Typus von familiärer Hornhauterkrankung" 10 : 559-571, 1929

13 Kobayashi A, "In vivo laser confocal microscopy findings and mutational analysis for Schnyder's crystalline corneal dystrophy" 116 : 1029-1037, 2009

14 Kim JH, "Histopathological Findings of Schnyder's Crystalline Corneal Dystrophy" 36 : 1363-1369, 1995

15 Weiss JS, "Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function" 146 : 271-283, 2008

16 Theendakara V, "Fine mapping of the Schnyder's crystalline corneal dystrophy locus" 114 : 594-600, 2004

17 van Went JM WF, "En zeldzame erfelijke hoornvliessandoening" 68 : 2996-2997, 1924

18 Delleman JW, "Degeneratio corneae cristallinea hereditaria. A clinical, genetical and histological study" 155 : 409-426, 1968

19 Weller RO, "Crystalline stromal dystrophy: histochemistry and ultrastructure of the cornea" 64 : 46-52, 1980

20 Bron AJ, "Corneal changes in the dislipoproteinaemias" 8 : 135-140, 1989

21 Aldave AJ, "Analysis of fifteen positional candidate genes for Schnyder crystalline corneal dystrophy" 11 : 713-716, 2005

22 Jing Y, "A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy" 15 : 1463-1469, 2009

23 Jung SC, "A Case of Spontaneous Regression of Schnyder's Crystalline Corneal Dystrophy" 41 : 1441-1444, 2000