In vivo confocal microscopy of a family with schnyder crystalline corneal dystrophy
β Scribed by Minna H Vesaluoma; Tuuli U Linna; Eeva-Marja Sankila; Jayne S Weiss; Timo M.T Tervo
- Book ID
- 117329337
- Publisher
- Elsevier Science
- Year
- 1999
- Tongue
- English
- Weight
- 730 KB
- Volume
- 106
- Category
- Article
- ISSN
- 0161-6420
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Schnyder corneal crystalline dystrophy (SCCD) comprises corneal opacities often associated with precocious arcus senilis and genua valga. The metabolic defect seems to be related to abnormal lipid storage in the central part of the cornea, especially the anterior stroma, consisting mainly of noneste
## Abstract Schnyder crystalline corneal dystrophy (SCCD) is a rare autosomal dominant disease characterized by progressive corneal opacification resulting from abnormal deposition of cholesterol and phospholipids. Recently, six different mutations on the __UBIAD1__ gene on chromosome 1p36 were fou