Discordant retinitis pigmentosa in monozygotic twins.
نویسندگان
چکیده
The authors have no relevant financial interest in this article. This study was supported in part by grants B-12557145 and B-11470361 (Dr Nakazawa) from Grants-in-Aid for Scientific Research, Ministry of Education, Culture, Sports, Science, and Technology, and the Research Committee on Chorioretinal Degenerations and Optic Atrophy, the Ministry of Health, Welfare, and Labor of the Japanese Government (Dr Nakazawa), Tokyo. Corresponding author and reprints: Mitsuru Nakazawa, MD, Department of Ophthalmology, Hirosaki University School of Medicine, Hirosaki, 036-8562 Japan (e-mail: [email protected]).
منابع مشابه
Monozygotic twins discordant for rubinstein-taybi syndrome.
A pair of male monozygotic twins discordant for Rubinstein-Taybi syndrome is reported. Monozygosity of the twins was established using blood grouping, typing of serum proteins, isozymes, HLA, and chromosomal heteromorphisms. The twins are the first twin pair discordant for the syndrome in which monozygosity has been firmly established. The pathogenesis of the syndrome is discussed in relation t...
متن کاملDiscordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene.
OBJECTIVE To report discordant phenotypes, resulting from the same mutation in exon ORF15 (GenBank AF286472) of the retinitis pigmentosa GTPase regulator gene (RPGR) (GenBank U57629), in 2 presumed dizygotic twin brothers with X-linked retinal disease. METHODS The 2 brothers underwent complete ophthalmic examination that included best-corrected visual acuity, slitlamp biomicroscopy, and detai...
متن کاملAnatomic brain abnormalities in monozygotic twins discordant for attention deficit hyperactivity disorder.
OBJECTIVE To examine brain-behavior relationships in attention deficit hyperactivity disorder (ADHD), the authors obtained magnetic resonance imaging (MRI) scans of monozygotic twins discordant for ADHD. METHOD National recruitment was followed by in-person assessment. MRI scans were measured algorithmically for nine pairs of monozygotic twins discordant for ADHD. RESULTS The affected twins...
متن کاملDiscordant phenotypes in monozygotic twins with identical de novo WT1 mutation
Mutations in the WT1 gene, leading to Denys-Drash syndrome and Frasier syndrome, can also cause isolated steroid-resistant nephrotic syndrome (ISRNS). Previous studies have reported six pairs of monozygotic twins with WT1 mutations, including one presenting with discordant phenotypes with identical WT1 mutations being of paternal origin and five pairs of monozygotic twins presenting the same ph...
متن کاملVolumes of brain structures in twins discordant for schizophrenia.
BACKGROUND The study was designed to examine the relative contributions of genetic and nongenetic factors to structural brain abnormalities in schizophrenia and subjects at risk to develop the disorder. METHODS The brains of 15 monozygotic and 14 same-sex dizygotic twins discordant for schizophrenia (patients) and 29 healthy twins pair-wise matched for zygosity, sex, age, and birth order were...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Archives of ophthalmology
دوره 121 7 شماره
صفحات -
تاریخ انتشار 2003