Retinal dysfunction characterizes subtypes of dominant optic atrophy
Retinal dysfunction characterizes subtypes of dominant optic atrophy
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DOI：
10.1111/aos.13557
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发表时间：
2018-03-01
影响因子：
3.4
通讯作者：
Barboni, Piero
中科院分区：
文献类型：
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作者：
Cascavilla, Maria Lucia;Parisi, Vincenzo;Barboni, Piero
目的应用多焦视网膜电图（mfERG）检测显性视神经萎缩（DOA）患者的节前视网膜功能。患者根据基因突变分为两组：错义突变（DOA-M组，11只眼）和突变导致单倍不足（DOA-H组，24只眼）。对离中心凹不同偏心率的5个环形视网膜区域的mfERG N1-P1反应幅度密度（RAD）进行了评价（环1：0-5度，R1;环2：5-10度，R2;环3：10-15度，R3;环4：15-20度，R4;和环5：20-25度，R5）和基于视网膜地形图的八个扇区：颞上级（TS）、颞下（TI）、鼻上级（NS）、鼻下（NI）、颞（T）、上级（S）、鼻（N）、下（I）。DOA组显示R1-R4环和TI、NS和N扇区的N1-P1 RAD值显著降低[方差分析（ANOVA），p
PurposeTo assess preganglionic retinal function using multifocal electroretinogram (mfERG) in patients affected by dominant optic atrophy (DOA) stratified by OPA1 gene mutation.MethodsMultifocal electroretinogram (mfERG) was recorded in 18 DOA patients (DOA group, 35 eyes) and 25 age-matched healthy subjects (control group, 25 eyes). Patients were stratified in two groups based on gene mutation: missense mutation (DOA-M group, 11 eyes) and mutation causing haploinsufficiency (DOA-H group, 24 eyes). The mfERG N1-P1 response amplitude density (RAD) has been evaluated in five annular retinal areas with different eccentricity from the fovea (ring 1: 0-5 degrees, R1; ring 2: 5-10 degrees, R2; ring 3: 10-15 degrees, R3; ring 4: 15-20 degrees, R4; and ring 5: 20-25 degrees, R5) and in eight sectors on the basis of the retinal topography: temporal-superior (TS), temporal-inferior (TI), nasal-superior (NS) and nasal-inferior (NI), temporal (T), superior (S), nasal (N) and inferior (I).ResultsCompared to controls, DOA group revealed a significant reduction in N1-P1 RADs values in R1-R4 rings and in TI, NS and N sectors [analysis of variance (ANOVA), p