The genetics of cornea plana congenita.
نویسندگان
چکیده
Cornea plana congenita is believed to occur in a mild autosomal dominant (CNA1) and a more severe autosomal recessive (CNA2) form. We recently assigned a CNA2 locus to a region on chromosome 12 by linkage analysis. In this study we compared these traits clinically and genetically. Using the horizontal corneal refraction value in diopters (D) as a parameter, a control population (n = 473) had a mean value of 43 center dot 4 (SD 1 center dot 5 D) for men and 43 center dot 7 (SD 1 center dot 6 D) for women, whereas in 51 subjects affected with CNA2 the mean value was 29 center dot 9 (SD 5 center dot 2 D) and in five subjects affected with CNA1 the mean value was 37 center dot 8 (SD 1 center dot 6 D). By linkage analysis in two CNA1 families the CNA2 locus could be conclusively excluded. These data suggest that at least two forms of hereditary cornea plana exist which are both clinically and genetically distinct.
منابع مشابه
Dominantly and recessively inherited cornea plana congenita map to the same small region of chromosome 12.
Cornea plana congenita occurs in a mild autosomal dominant (CNA1) and a more severe autosomal recessive (CNA2) form. We recently assigned a CNA2 locus to a region on chromosome 12 by linkage analysis and excluded linkage to that locus in two Finnish CNA1 families. Here we describe a Cuban pedigree in which 14 members are affected with dominantly inherited cornea plana. By linkage analysis this ...
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PURPOSE To report corneal decompensation in 3 patients with recessive cornea plana. METHODS Retrospective case series. RESULTS An adult and two children (all unrelated) with clinical recessive cornea plana had gradual decrease in vision. Ophthalmic examination revealed corneal decompensation (stromal thickening and haze without epithelial changes) in the 3 patients. Diagnostic DNA sequencin...
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A case of cornea plana with its typical clinical findings has been presented along with ultrasonographic documentation confirming the axial length of the globe to be normal in this condition. It is presented to draw attention to the clinician that although cornea plana is rare, it should be considered in the differential diagnosis of a patient with small eyes or suspected microcornea.
متن کاملClinical and molecular characterization of a family with autosomal recessive cornea plana.
BACKGROUND Autosomal recessive cornea plana is characterized by a flattened corneal surface associated with hyperopia and various anterior segment abnormalities. Mutations have been detected in the keratocan gene (KERA), a member of the small leucine-rich proteoglycan family. OBJECTIVE To clinically and molecularly characterize a consanguineous family of Hispanic origin in which 3 individuals...
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PURPOSE To report clinical and genetic findings in a white British family with autosomal recessive cornea plana (CNA2) with a negative history for consanguinity. To look for evidence of a common ancestry with previously reported Finnish CNA2 patients by studying haplotypes. METHODS Clinical examination and direct sequencing of the keratocan (KERA) gene was performed in two siblings affected w...
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عنوان ژورنال:
- Journal of medical genetics
دوره 33 2 شماره
صفحات -
تاریخ انتشار 1996