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Acta Ophthalmol. 2018 Mar;96(2):e156-e163. doi: 10.1111/aos.13557. Epub 2017 Sep 19.

Retinal dysfunction characterizes subtypes of dominant optic atrophy.

Author information

1
Scientific Institute San Raffaele Via Olgettina, Milan, Italy.
2
"G.B. Bietti" Foundation - IRCCS, Rome, Italy.
3
Studio Oculistico d'Azeglio, Bologna, Italy.
4
Unit of Molecular Neurogenetics, Foundation "C. Besta" Neurological Institute-IRCCS, Milan, Italy.
5
Neuro-ophthalmology Unit, Department of Ophthalmology, IRCCS Istituto Auxologico Italiano, Milano, Italy.
6
Department of Ophthalmology, Dohene Eye Institute, UCLA, Pasadena, CA, USA.
7
IRCCS, Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
8
Neurology Unit, Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.

Abstract

PURPOSE:

To assess preganglionic retinal function using multifocal electroretinogram (mfERG) in patients affected by dominant optic atrophy (DOA) stratified by OPA1 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 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).

RESULTS:

Compared 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 < 0.01). DOA-M group showed a significant reduction in N1-P1 RADs 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 RADs 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.

KEYWORDS:

OPA1 gene; dominant optic atrophy; multifocal electroretinogram; photoreceptors; retinal topography

PMID:
28926202
DOI:
10.1111/aos.13557
[Indexed for MEDLINE]
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