NMNAT1-ASSOCIATED CONE–ROD DYSTROPHY: EVIDENCE FOR A SPECTRUM OF FOVEAL MALDEVELOPMENT

眼科 医学 眼底(子宫) 中央凹 脱色 视力 视网膜 视网膜 光学相干层析成像 中央凹 外层核层 生物 皮肤病科 神经科学
作者
Emma Bedoukian,Xiaosong Zhu,Leona Serrano,Drew Scoles,Tomas S. Alemán
出处
期刊:Retinal Cases & Brief Reports [Ovid Technologies (Wolters Kluwer)]
卷期号:16 (3): 385-392 被引量:9
标识
DOI:10.1097/icb.0000000000000992
摘要

To describe in detail the phenotype of two siblings with biallelic NMNAT1 mutations.A 4-year-old male patient (P1) and his 7-year-old sister (P2), product of a nonconsanguineous union of Egyptian ancestry, underwent a comprehensive ophthalmic examination, retinal imaging with spectral domain optical coherence tomography and near infrared (NIR) fundus autofluorescence (FAF), and full-field electroretinograms (ERG).Patients had blurred vision and nystagmus at ∼3 years of age. P2 was hyperopic (+6D). Visual acuity in P1 was 20/100 at age 3 and remained at ∼20/125 at age 4; P2 visual acuity was 20/70 at age 4 and declined to ∼20/200 at age 7. ERGs recorded in P1 showed relatively large rod-mediated responses but nearly undetectable cone signals. There was foveal/parafoveal depigmentation. Spectral domain optical coherence tomography showed hypoplastic foveas, a thin outer nuclear layer centrally but normal thickness beyond the vascular arcades. At the foveal center, cone outer segments were absent and the outer nuclear layer was further hyporreflective. The inner retina was mostly within normal limits. There was central depigmentation on near infrared fundus autofluorescence. Biallelic mutations were identified in NMNAT1: One was previously reported (c.769 G>A; pGlu257Lys), and the other one (c.245T>C; pVal82Ala) was novel.NMNAT1 mutations cause a consistent phenotype characterized by early-onset, progressive, cone>rod retinawide dysfunction and predominantly central abnormalities ranging from a hypoplastic to an atrophic fovea, supporting a critical role for NMNAT1 in central retinal development and maintenance. Relatively preserved inner retina and detectable photoreceptors may become therapeutic targets.

科研通智能强力驱动
Strongly Powered by AbleSci AI
更新
大幅提高文件上传限制,最高150M (2024-4-1)

科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
汉堡包应助pv2000采纳,获得10
1秒前
1秒前
今天只做一件事完成签到,获得积分0
1秒前
俭朴元风发布了新的文献求助10
2秒前
2秒前
3秒前
天天快乐应助陪伴采纳,获得10
4秒前
5秒前
5秒前
xyzdmmm完成签到,获得积分10
6秒前
Rz发布了新的文献求助10
6秒前
Dou发布了新的文献求助10
6秒前
6秒前
7秒前
LX完成签到 ,获得积分10
8秒前
鱼鱼特穆尔完成签到 ,获得积分10
8秒前
10秒前
pv2000发布了新的文献求助10
10秒前
好奇宝宝发布了新的文献求助10
12秒前
zhzssaijj发布了新的文献求助10
12秒前
俭朴元风完成签到,获得积分10
14秒前
打打应助Fury采纳,获得10
14秒前
yar给哈哈的求助进行了留言
15秒前
15秒前
陪伴发布了新的文献求助10
15秒前
爱听歌的飞柏完成签到,获得积分10
17秒前
Zr完成签到,获得积分10
17秒前
17秒前
木风落完成签到,获得积分10
18秒前
wbr关注了科研通微信公众号
18秒前
默然的歌完成签到 ,获得积分10
20秒前
洪东智完成签到,获得积分10
22秒前
陪伴完成签到,获得积分10
23秒前
23秒前
Dou完成签到,获得积分10
27秒前
清秀夏寒发布了新的文献求助10
28秒前
29秒前
脑洞疼应助积极方盒采纳,获得10
29秒前
sally_5202完成签到 ,获得积分10
29秒前
Rz完成签到,获得积分10
32秒前
高分求助中
Rock-Forming Minerals, Volume 3C, Sheet Silicates: Clay Minerals 2000
The late Devonian Standard Conodont Zonation 2000
Nickel superalloy market size, share, growth, trends, and forecast 2023-2030 2000
The Lali Section: An Excellent Reference Section for Upper - Devonian in South China 1500
The Healthy Socialist Life in Maoist China 600
The Vladimirov Diaries [by Peter Vladimirov] 600
Encyclopedia of Computational Mechanics,2 edition 500
热门求助领域 (近24小时)
化学 医学 生物 材料科学 工程类 有机化学 生物化学 物理 内科学 纳米技术 计算机科学 化学工程 复合材料 基因 遗传学 催化作用 物理化学 免疫学 量子力学 细胞生物学
热门帖子
关注 科研通微信公众号,转发送积分 3269843
求助须知:如何正确求助?哪些是违规求助? 2909430
关于积分的说明 8349120
捐赠科研通 2579802
什么是DOI,文献DOI怎么找? 1403046
科研通“疑难数据库(出版商)”最低求助积分说明 655607
邀请新用户注册赠送积分活动 634869