Abstract
BackgroundTo assess posterior pole (PP) retinal structure in patients with genetically confirmed autosomal dominant optic atrophy (ADOA) using new spectral domain optical coherence tomography (SD-OCT) segmentation technology. To analyze retinal PP thickness in relation to retinal sensitivity data from microperimetry (MP) in ADOA patients.Methods and findingsThis prospective cross-sectional study included 11 patients with ADOA and 11 age-matched healthy subjects. All participants underwent both a “Posterior Pole” and “peripapillary RNFL (pRNFL)” scanning protocol using SD-OCT. Functional mapping of the PP was also performed using MP. A customized program was implemented in order to achieve accurate superimposition of MP sensitivity map onto SD-OCT map. The thickness of the PP different retinal layers and pRNFL was obtained and measured for each eye. Mean retinal sensitivity values and fixation stability were obtained and compared between ADOA patients and healthy subjects. Correlation analysis was performed on a point-to-point basis to evaluate the association between mean thickness and retinal sensitivity of each retinal layer. Total retinal thickness (TRT), Retinal Nerve Fiber Layer (RNFL), Ganglion Cell Layer (GCL), Inner Plexiform Layer (IPL), Inner Nuclear Layer (INL) and Inner Retinal Layers (IRL) at the posterior pole as well as pRNFL were significantly thinner in ADOA patients (P < 0.0001). On the contrary, the Outer Plexiform Layer (OPL) and the Outer Nuclear Layer (ONL) were significantly thicker in the ADOA group (P < 0.001). No significant differences were found in Retinal Pigment Epithelium (RPE) and Outer Retinal Layers (ORL) thickness between ADOA and controls. The average PP retinal sensitivity was significantly reduced in ADOA patients compared with controls (P < 0.001), as measured by microperimeter Nidek MP-1 (MP1). Fixation stability was significantly worse in the ADOA group (P = 0.01). The most severe sensitivity defects in ADOA patients were found at the level of the papillo-macular bundle (PMB).ConclusionsInner retinal layers showed pathological changes in ADOA patients. In addition, the whole retinal PP (not only the PMB) was significantly altered in ADOA, both in terms of retinal thickness and sensitivity.
Highlights
Autosomal Dominant Optic Atrophy (ADOA, or Optic Atrophy 1; OMIM#165500), known as Kjer disease, is the most common form of hereditary optic neuropathy [1] with an estimated incidence of 1/30.000 people worldwide [2].autosomal dominant optic atrophy (ADOA), generally diagnosed in early childhood, is characterized by a progressive bilateral loss of visual acuity, blue-yellow dyschromatopsia, variable central or centrocecal visual field defects, and temporal or diffuse optic nerve pallor with optic disc excavation [3,4,5]
Total retinal thickness (TRT), Retinal Nerve Fiber Layer (RNFL), Ganglion Cell Layer (GCL), Inner Plexiform Layer (IPL), Inner Nuclear Layer (INL) and Inner Retinal Layers (IRL) at the posterior pole as well as peripapillary retinal nerve fiber layer (RNFL) (pRNFL) were significantly thinner in ADOA patients (P < 0.0001)
OPA1 plays a major role in regulating mitochondrial network dynamics: in particular, the Opa1 protein induces fusion of the mitochondrial inner membrane, modulates apoptosis through the compartmentalization of cytochrome c and it is implicated in oxidative phosphorylation and in the maintenance of the membrane potential [12,13,14]
Summary
Autosomal Dominant Optic Atrophy (ADOA, or Optic Atrophy 1; OMIM#165500), known as Kjer disease, is the most common form of hereditary optic neuropathy [1] with an estimated incidence of 1/30.000 people worldwide [2].ADOA, generally diagnosed in early childhood, is characterized by a progressive bilateral loss of visual acuity, blue-yellow dyschromatopsia, variable central or centrocecal visual field defects, and temporal or diffuse optic nerve pallor with optic disc excavation [3,4,5]. Mutations in the optic atrophy-1 gene (OPA1, OMIMÃ605290), which is localized on the long arm of chromosome 3q28-q29, are responsible for about 60%-80% of the cases of ADOA [7,8,9]. More than 300 OPA1 mutations have been reported with mutational hot spots in the catalytic GTPase domain (exons 8–15) and the dynamin central domain (exons 16–23) [8,9,10,11]. OPA1 gene codes for a 960-amino-acid, dynamin-related GTPase targeted to the inner mitochondrial membrane, which is involved in multiple functions. To assess posterior pole (PP) retinal structure in patients with genetically confirmed autosomal dominant optic atrophy (ADOA) using new spectral domain optical coherence tomography (SD-OCT) segmentation technology. To analyze retinal PP thickness in relation to retinal sensitivity data from microperimetry (MP) in ADOA patients
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