Hereditary Posterior Polar Cataract, with Report of a Pedigree.
نویسندگان
چکیده
K HEREDITARY, developmental, posterior polar cataract has been encountered in a North Country family and its descendants over five generations. It shows two unique features: progression and anticipation. Although several types of hereditary cataract have already been fully reported in the literature, only one satisfactory pedigree relating to posterior polar cataract has previously been recorded (Ziegler and Griscom, 1915). In the series of cases described in that pedigree, neither of these two features was demonstrated.
منابع مشابه
A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree
PURPOSE To identify the mutant gene for autosomal dominant posterior polar congenital cataract in a four-generation Chinese pedigree. METHODS The clinical data of patients from the family were recorded by slit-lamp photography. Genomic DNA samples from peripheral blood of the pedigree members were then isolated to map the relevant gene, using microsatellite markers for two-point linkage analy...
متن کاملA Nonsense Mutation of γD-crystallin Associated with Congenital Nuclear and Posterior Polar Cataract in a Chinese Family
OBJECTIVE The goal of this study was to characterize the disease-causing mutations in a Chinese family with congenital nuclear and posterior polar cataracts. METHODS Clinical data of patients in the family were recorded using slit-lamp photography and high definition video. Genomic DNA samples were extracted from the peripheral blood of the pedigree members and 100 healthy controls. Mutation ...
متن کاملClinical and genetic heterogeneity in autosomal dominant cataract.
AIMS To determine the different morphologies of autosomal dominant cataract (ADC), assess the intra- and interfamilial variation in cataract morphology, and undertake a genetic linkage study to identify loci for genes causing ADC and detect the underlying mutation. METHODS Patients were recruited from the ocular genetic database at Moorfields Eye Hospital. All individuals underwent an eye exa...
متن کاملA locus for autosomal dominant anterior polar cataract on chromosome 17p.
Inherited cataract is a clinically and genetically heterogeneous disease. Here we report the identification of a new locus for an autosomal dominant anterior polar cataract on the short arm of chromosome 17. To map this new locus we performed genetic linkage analysis with microsatellite markers in a four-generation pedigree. After exclusion of seven candidate loci for cataract, we obtained sign...
متن کاملشب کوری، هتروکرومیا و یووئیت در یک فرد از سلسله بیماران شبکور
The classical clinical triad of retinitis pigmentosa is arteriolar attenuation , retinal bone-spicule pigmentation and waxy disc pallor. A 33 year old female patient is introduced here. She had unilateral posterior subcapsular cataract, heterochromic iris, and uveitis.The patient also suffered night blindness , had a family history of low vision ,and reduced visual acuity in her right e...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Transactions of the American Ophthalmological Society
دوره 14 Pt 1 شماره
صفحات -
تاریخ انتشار 1955