Pellucid marginal degeneration coexistent with cornea plana in one member of a family exhibiting a novel KERA mutation
نویسندگان
چکیده
منابع مشابه
Study 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...
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 کاملSurgical treatment of advanced pellucid marginal degeneration.
PURPOSE To determine the efficacy of simultaneous peripheral crescentic lamellar keratoplasty (LK) and central penetrating keratoplasty (PK) for advanced pellucid marginal degeneration (PMD). DESIGN Retrospective, noncomparative, interventional case series. PARTICIPANTS Five patients with advanced PMD. METHOD Simultaneous peripheral crescentic LK and central PK followed by selective sutur...
متن کاملCorneal Hydrops in Pellucid Marginal Degeneration: A Case Series
PURPOSE To report an unusual presentation of pellucid marginal degeneration (PMD) and its management by using air injection and tension sutures. CASE REPORT We report 2 cases with a history of acute pain and loss of vision. Examination revealed hydrops at the 6-9 o'clock meridian with Descemet's membrane detachment and tear at the same area and advanced PMD in the other eye. DISCUSSION Air ...
متن کاملIntacs for early pellucid marginal degeneration.
A 42-year-old man had Intacs (Addition Technology Inc.) implantation for early pellucid marginal degeneration (PMD). Two Intacs segments (0.45 mm thickness) were inserted uneventfully in the fashion typically used for low myopia correction (nasal-temporal). Eleven months after the procedure, the uncorrected visual acuity was 20/200, compared with counting fingers preoperatively, while the best ...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 2005
ISSN: 0007-1161
DOI: 10.1136/bjo.2005.073510