A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1)

被引：0
|
作者：
Juanita Pappalardo
Rachael C. Heath Jeffery
Jennifer A. Thompson
Enid Chelva
Quang Pham
Ian J. Constable
Terri L. McLaren
Tina M. Lamey
John N. De Roach
Fred K. Chen
机构：
[1] The University of Western Australia,Centre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute)
[2] Sir Charles Gairdner Hospital,Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics
[3] Royal Perth Hospital,Department of Ophthalmology
[4] Perth Children’s Hospital,Department of Ophthalmology
来源：
Documenta Ophthalmologica | 2021年 / 143卷
关键词：
Inherited retinal disease; Natural history study; Quantitative fundus autofluorescence; Microperimetry; Best disease; Choroidal neovascularisation; Vitelliform macular dystrophy; Retinitis pigmentosa;
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页码：61 / 73
页数：12
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