The Clinical Features And Gene Analysis Of Schnyder Corneal Dystrophy

Chapter I. Clinical and pathological features of schnyder corneal dystrophyPurpose:To observe the clinical appearance of a family with schnyder corneal dystrophy, research the image features of histopathology and confocal microscopy in SCD cornea.Method:Collected a family with SCD, recording the clinical information of five affected members. One of SCD patients received lamellar keratoplasty, and then his corneal sample had examination with light microscopy.Result:Slit-lamp examination demonstrated five affected patients, only a SCD patient without crystalline deposits in both cornea. Lipid analysis demonstrated mild lipid anomalies occur in all of them. Confocal microscopy indicated crack-like striaes, abnormal deposits which shape as short or long spindle-like appear in corneal stroma. A non-crystalline SCD patient who confocal microscopy showed spindle-like qualities deposit in corneal stroma. Histopathological examination identified abnormal lipid cholesterol exist in the cornea with SCD.Conclusion:The clinical appearance of SCD was classified as type of crystals and non-crystals. Slit-lamp examination can’t find mini crystalline deposits in SCD cornea. Using confocal microscopy is benefit to distinguish from crystals and non-crystals in SCD, that examination clinically had important value. Histopathological examination can found abnormal lipid cholesterol ingredients exist in the patient’s cornea with SCD.Chapter II. Analysis of gene mutation in Schnyder corneal dystrophyPurpose:To collect blood sample of family with schnyder corneal dystrophy, sequencing their mutational gene and locus.Method:After obtaining informed consent, invited SCD family lived in Anhui, arrived at our hospital for blood samples collected. Subsequently, take these blood samples to introven (shanghai) limited company for gene sequencing, searching for mutational gene and locus. Result:The research collected a SCD family, the available members only11peoples in total13peoples. Five patients with SCD phenotypes identified UBIAD1mutation, point mutation at position N102S but not in six asymptomatic individuals.Conclusion: The data collection made a good preparation for further study of clinical manifestations and gene mutations of SCD patients in China.