Poster 135

by in  Poster Session 2

OCT and ERG Initial Findings in Leber Congenital Amaurosis and Genetic Analysis

Sachiko Nishina, MD, PhD1; Tadashi Yokoi, MD, PhD1; Tomoyo Yoshida, MD1; Maki Fukami, MD, PhD2; Katsuhiro Hosono, PhD3; Kentaro Kurata, MD3; Yoshihiro Hotta, MD, PhD3; Noriyuki Azuma, MD, PhD
1Department of Ophthalmology and Laboratory for Visual Science, National Center for Child Health and Development
2-10-1 Okura, Setagaya-ku, Tokyo, Japan
2Department of Molecular Endocrinology, National Research Institute for Child Health and Development
2-10-1 Okura, Setagaya-ku, Tokyo, Japan
3Department of Ophthalmology, Hamamatsu University School of Medicine
1-20-1 Handayama, Higashi-ku, Hamamatsu, Shizuoka, Japan

 

Introduction: This study aims to investigate the initial status of retinal features in Leber congenital amaurosis (LCA) and perform genetic analysis.

Methods: Twenty-nine patients with LCA (ages 4-83 months; mean, 39 months) were examined under general anesthesia. The fundus photography including fluorescein angiography (FA), optical coherence tomography (OCT), full-field and focal macular electroretinography (ERG), and visual acuity (VA) were evaluated. To identify causative mutations, 74 genes that cause LCA or retinitis pigmentosa were examined by targeted-next generation sequencing.

Results: Ophthalmoscopy and FA showed minimal to significant retinal degeneration. Macular degeneration was found in 18 patients (62%). Scotopic and photopic ERG responses were extinguished in 16 patients (55%), in which the entire retina was attenuated and coarsely laminated in 10 patients; only the ellipsoid zone (EZ) was absent in 6 patients. However, reduced ERG responses were recorded in 13 patients (45%) including minimal focal macular response (n=4), in which the entire retina was attenuated (n=1), and the EZ was absent (n=6), but the foveal EZ was maintained in some (n=6). The VA, available for 21 patients, was light perception (n=8), 0.01~0.1 (n=6), 0.1~0.3 (n=4), and =0.4 (n=3), which agreed with the initial ERG and OCT findings. To now, genetic examinations have confirmed causative mutations in 8 patients.

Discussion: ERG and OCT identified various retinal features in the initial LCA stage, which may be consistent with the VAs.

Conclusion: These findings might facilitate evaluation of genotype-phenotype associations and estimation of progression of retinal degeneration.

References: Hosono K, Harada Y, Kurata K, et al., Novel GUCY2D gene mutations in Japanese male twins with Leber congenital amaurosis. J Ophthalmol 2015; 2015:693468.

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