By Yang Li, Linda A. Lam, Zhengya Yu, Zhenglin Yang, Paul Bither, Kang Zhang (auth.), Robert E. Anderson, Matthew M. LaVail, Joe G. Hollyfield (eds.)
Since 1984, we've got geared up satellite tv for pc symposia on retinal degenerations which are held together with the biennial overseas Congress of Eye learn. The timing and placement of our Retinal Degeneration Symposia have allowed scientists and clinicians from worldwide to convene and current their fascinating new findings. The symposia were prepared to permit abundant time for discussions and one-on-one interactions in a calm surroundings, the place overseas friendships and collaborations may be demonstrated. The IXth foreign Symposium on Retinal Degeneration used to be hung on October 9-14, 2000 in Durango, Colorado and was once attended via over a hundred scientists from six continents. This publication includes a lot of their shows. a number of occasions of word happened at this assembly. First, because of the beneficiant help of the basis struggling with Blindness, we have been capable of sponsor the shuttle of eleven younger scientists from six nations. so much of them have contributed chapters to this quantity. The reaction to the commute software used to be so overwhelming that we are going to make it average characteristic of our assembly. this can enable different brilliant, younger investigators to be brought to the area specialists who examine retinal degenerations. moment, approximately forty% of the scientists who attended this assembly have been there for the 1st time. We think that this means a transforming into curiosity in retinal degeneration examine and guarantees that new expertise may be interested in this crucial sector of research. The symposium acquired help from numerous organizations.
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Extra info for New Insights Into Retinal Degenerative Diseases
928 C deletionlGAAG insertion occurred at a relatively high frequency in Japanese patients, suggesting a founder effect. Most of the elderly fundus albipunctatus patients had cone dystrophy with a depression of visual functions. We suggest that the mutations of the RDH5 gene causes a cone dystrophy as well as night blindness in Japanese patients. 2. ) The fundus demonstrates a large number of discrete, small, round or elliptical, yellow-white lesions. 4 Electrophysiological examination of patients with fundus albipunctatus revealed normal scotopic and photopic electroretinographic (ERG) responses but a long dark-adaptation * Department of Ophthalmology, Nagoya University School of Medicine, 65 Tsuruma-cho, Showa-ku, Nagoya 466-8560, Japan.
Molecular genetical examination revealed either a homozygous or a compound heterozygous mutation of the RDH5 gene in all ofthe patients examined (Table 1). A C 31 RDHS MUTATIONS IN JAPANESE FUNDUS ALBIPUNCfATUS PATIENTS Table 1. 928 C to GAAG Tyr281His Leu310GluVal Gly107Arg Leu31 OGluVal Leu310GIuVal Leu310GluVal Leu310GluVai Va1132Met Arg280His Leu310GIuVal Gly35Ser Leu310GIuVal Gly35Ser Gly35Ser Leu310GluVai Arg280His Leu310GluVal Leu310GluVai Leu310GIuVai Leu310GluVal *Cases 9 and II, Cases 13 and 14 are brothers, respectively.
Hiriyanna, Rita Singh-Parikshak, Eve L. Bingham, Jennifer A. Kemp, Radha Ayyagari, Beverly M. Yashar, and Paul A. Sieving* 1. SUMMARY We have analyzed 145 RS families for mutations in the XLRSI gene and have sought clinical correlation of phenotype severity with the type and location of mutation in a subset of these families. Some of the RS families exhibited consistency of either severe or mild clinical phenotypes in multiple affected male members. Intrafamilial variability of clinical phenotypes was encountered in affected males of several other RS families.
New Insights Into Retinal Degenerative Diseases by Yang Li, Linda A. Lam, Zhengya Yu, Zhenglin Yang, Paul Bither, Kang Zhang (auth.), Robert E. Anderson, Matthew M. LaVail, Joe G. Hollyfield (eds.)