Cornea plana
نویسندگان
چکیده
منابع مشابه
Cornea plana: a case report.
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 کاملThe genetics of cornea plana congenita.
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 ...
متن کاملCorneal decompensation in recessive cornea plana.
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...
متن کاملA novel keratocan mutation causing autosomal recessive cornea plana.
PURPOSE Mutations in keratocan (KERA), a small leucine-rich proteoglycan, have recently been shown to be responsible for cases of autosomal recessive cornea plana (CNA2). A consanguineous pedigree in which cornea plana cosegregated with microphthalmia was investigated by linkage analysis and direct sequencing. METHODS Linkage was sought to polymorphic microsatellite markers distributed around...
متن کاملStudy of p.N247S KERA mutation in a British family with cornea plana.
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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ژورنال
عنوان ژورنال: Australian and New Zealand Journal of Ophthalmology
سال: 1995
ISSN: 0814-9763,1440-1606
DOI: 10.1111/j.1442-9071.1995.tb01651.x