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Retinal dysfunction characterizes subtypes of dominant optic atrophy
Author(s) -
Cascavilla Maria Lucia,
Parisi Vincenzo,
Triolo Giacinto,
Ziccardi Lucia,
Borrelli Enrico,
Di Renzo Antonio,
Balducci Nicole,
Lamperti Costanza,
Bianchi Marzoli Stefania,
Darvizeh Fatima,
Sadun Alfredo A.,
Carelli Valerio,
Bandello Francesco,
Barboni Piero
Publication year - 2018
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/aos.13557
Subject(s) - retinal , atrophy , ophthalmology , missense mutation , medicine , electroretinography , retina , anatomy , biology , mutation , pathology , gene , genetics , neuroscience
Purpose To assess preganglionic retinal function using multifocal electroretinogram (mfERG) in patients affected by dominant optic atrophy ( DOA ) stratified by OPA 1 gene mutation. Methods Multifocal 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 mf ERG 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). Results Compared to controls, DOA group revealed a significant reduction in N1‐P1 RAD s values in R1‐R4 rings and in TI , NS and N sectors [analysis of variance ( ANOVA ), p < 0.01). DOA ‐M group showed a significant reduction in N1‐P1 RAD s values in R1‐R5 rings and in TI , NS , NI , T, N and I sectors (p < 0.01). Dominant optic atrophy‐H (DOA‐H) group displayed only a significant (p < 0.01) reduction in N1‐P1 RAD s values, exclusively in R1 and in the NS sector. Conclusion Preganglionic retinal impairment occurs in DOA with a clear genotype to retinal dysfunction association. Missense mutations are characterized by a far more severe functional impairment.