Young Monozygotic Twin Sisters With Fundus Albipunctatus and Cone Dystrophy

نویسندگان

چکیده

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Young monozygotic twin sisters with fundus albipunctatus and cone dystrophy.

OBJECTIVE To describe young monozygotic twin sisters with fundus albipunctatus (a type of autosomal recessive stationary night blindness caused by mutations of the 11-cis retinol dehydrogenase gene [RDH5]) associated with cone dystrophy, previously reported in elderly men. METHODS Ophthalmologic examinations were performed, and the RDH5 gene was analyzed by direct genomic sequencing. RESULT...

متن کامل

A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.

PURPOSE To analyze the RDH5 gene in patients with fundus albipunctatus with and without cone dystrophy and to determine whether the disease is stationary or progressive and whether the cone dystrophy is a part of fundus albipunctatus or a separate disease. METHODS Fourteen patients from 12 separate Japanese families with fundus albipunctatus were examined. Six of the patients from 6 families ...

متن کامل

High-definition optical coherence tomographic visualization of photoreceptor layer and retinal flecks in fundus albipunctatus associated with cone dystrophy.

T he frequency of unintended vein or peripheral nerve biopsy with temporal artery biopsy has not been addressed specifically in the literature. The results of an inadvertent biopsy of a temporal vein or branch of the facial or auriculotemporal nerve are not inconsequential. Depending on the precise location in the temporal region and the type of peripheral nerve (motor or sensory), inadvertent ...

متن کامل

Gallstone Disease and Cholesterolosis in Monozygotic Twin Sisters

Gallstone disease and cholesterolosis may be inde pendent diseases or forms of the same disease, caused by impairment of cholesterol metabolism. Gallstone disease is characterized by formation of cholesterol concrements in the gallbladder cavity. Cholesterolosis is a hyperplastic cholecistosis, caused by cholesterol accumulation in the gallbladder wall with subsequent proliferation of gallblad ...

متن کامل

Agenesis of the Gallbladder in Monozygotic Twin Sisters

Agenesis of the gallbladder, a rare anomaly, is generally regarded as an organogenic failure. Several reports suggest that this congenital defect is inherited but that supposition remains controversial. We described agenesis of the gallbladder in identical twins. A 21-year-old female presented with a history of acute pain in the epigastrium and right hypochondrium. Various imaging modalities sh...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: Archives of Ophthalmology

سال: 2004

ISSN: 0003-9950

DOI: 10.1001/archopht.122.8.1203