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Products of the PCR were analyzed using nonradioisotopic single-strand conformation polymorphism (SSCP) with a *Yuko Wada; Department of Opthalmology, Tohoku University, School of Medicine, 1-1 Seiryomachi Aobaku, Sendai Miyagi, 980-8574, Japan. , Kluwer AcademiclPlenum Publishers, 200 I 23 24 Y. WADAET AL. modification previously described. The DNA fragment that showed abnormal mobility on SSCP was then sequenced to identify the mutation. J==r=:(:J Figurel. Pedigrees of Japanese families with fundus albipunctatus showing affected(solid symbols) and unaffected(open symbols) members.
1992;76:375-379. FUNCTIONAL ANALYSIS OF AIPLI A novel photoreceptor-pineal-specific protein causing Leber congenital amaurosis and other retinopathies Melanie M. Sohocki, Dayna L. Tirpak, Cheryl M. Craft, Stephen P. Daigerl 1. INTRODUCTION Leber congenital amaurosis (LeA, OMIM No. 204000) is a severe, early-onset inherited retinopathy that accounts for approximately 5% of all inherited retinal disease. To date, four genes associated with Leber congenital amaurosis have been identified, the most recent of which is the aryl-hydrocarbon interacting-like 1 gene, AIPL 1 (OMIM No.
Responses were evaluated against normals. 82 log cd-s/m2 in the dark-adapted state; this response has very little or nearly no rod a-wave contamination and thus reflects proximal retinal activity. 4. Grading Scheme We classified XLRS disease qualitatively as mild, moderate, or severe based on three factors of central involvement, peripheral involvement, and ERG responses. Variations from normal visual acuity (V A) were taken as one measure of the extent of foveal dysfunction. Peripheral involvement was judged by fundus appearance and visual field abnormalities.