title: Inherited syndrome with corneal snowflake dystrophy, oculocutaneous pigmentary disturbances, pseudoexfoliation and malabsorption. Statistical data of some symptoms.
abstract: Corneal endothelial snowflake dystrophy was diagnosed in a child of 12 years as part of an inherited syndrome associated with various oculocutaneous pigmentation disturbances and malabsorption. Altogether 1,173 people were analyzed, 229 with the dystrophy and 944 controls. Snowflake dystrophy was associated with two kinds of intraocular pigment changes: the prevalence rate of green irides was 21.7% and the prevalence rate of large star-shaped chromatophore-like cells attached to the anterior lens capsule, 23.9%. These associations were statistically significant. The youngest people with green irides or pigmented cells were 14 and 15 years, respectively. After 50 years, the prevalence rates of these pigment changes decreased, and this was statistically significant. Snowflake dystrophy was also associated with malabsorption: the prevalence rate of milk intolerance was 37.6%, lactose malabsorption (hypolactasia) 39.0%, and vitamin A or fat malabsorption 23.3%. The associations between snowflake dystrophy, milk intolerance and hypolactasia were statistically significant.
mesh_terms: D000293:Adolescent; D000328:Adult; D000818:Animals; D002648:Child; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology; D005128:Eye Diseases / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007787:Lactose Intolerance / Q000235:genetics; D007903:Lens Capsule, Crystalline / Q000473:pathology; D007908:Lens, Crystalline / Q000473:pathology; D008286:Malabsorption Syndromes / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008892:Milk / Q000378:metabolism; D010859:Pigmentation Disorders / Q000235:genetics* / Q000473:pathology; D012871:Skin Diseases / Q000235:genetics* / Q000473:pathology; D013577:Syndrome; D014801:Vitamin A / Q000378:metabolism
chemical_list: D014801:Vitamin A