Original articleOPA1 Mutations Associated with Dominant Optic Atrophy Influence Optic Nerve Head Size
Section snippets
Subjects
All DOA patients with a molecularly confirmed diagnosis of OPA1 mutations who were referred to the Department of Neurological Sciences at the University of Bologna between 2002 and 2006 were invited to participate in this study. Between September and December 2006, 28 DOA patients from 11 unrelated pedigrees of European ancestry were recruited and examined by optical coherence tomography (OCT) imaging in both eyes. Exclusion criteria were the presence in 1 or both eyes of any retinal pathology
Results
For this study, we collected 28 DOA patients from 11 DOA pedigrees that segregate a pathogenic mutation in the OPA1 gene (Table 1, Table 2). The control group consisted of 56 age-matched subjects. Demographic data (mean age and gender) of patients and controls are provided in Table 1. No patients were excluded because of these criteria. The mean age was not statistically different between these 2 groups.
Table 2 shows the OPA1 mutations in the 11 pedigrees studied and the results of the OCT
Discussion
The main finding of the current study is that the OPA1 mutant DOA patients, as a group, have an overall significantly smaller ONH as shown by the different parameters measured by OCT, compared with an age-matched control population. This observation suggests that OPA1 influences ocular, and in particular, ONH development. The smaller ONH conformation in the OPA1 mutant patients may, in turn, contribute to the pathogenic mechanism of DOA possibly explaining the early onset of the disease, which
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2018, Experimental Eye ResearchMitochondrial disorders of the retinal ganglion cells and the optic nerve
2018, MitochondrionCitation Excerpt :Reduction of the RNFL thickness supports the notion that the papillo-macular bundle is pre-dominantly affected in ADOA (Park and Hwang, 2015). OCT may also show a reduced size of the optic disc (Perganta et al., 2013), which may be explained by the role OPA1 plays in regulating developmental apoptosis and shaping of the optic head morphology (Barboni et al., 2010). OCT findings can be explained by degeneration of RGCs but the underlying pathomechanism is poorly understood (Sarzi et al., 2016).
Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families
2017, Journal of the Neurological SciencesCitation Excerpt :Autosomal Dominant Optic Atrophy (ADOA; OMIM 605290), firstly described by Kjer [1], represents one of the most common hereditary optic neuropathies, with an estimated prevalence of 1:12,000 to 1:50,000 [2]. ADOA usually presents insidiously in childhood with bilateral visual loss, ultimately leading to optic atrophy [3,4], with selective retinal ganglion cells (RGCs) loss as its defining pathological characteristic [5,6]. However, its clinical expressivity greatly varies even within families [4].
Manuscript no. 2009-1102.
Financial Disclosure(s): The authors have no proprietary or commercial interest in any of the materials discussed in this article.
Supported by a Telethon Italy grant (#GGP06233 to VC) and Italian Ministry of health grant (RF-FGB-2006-368547).