Reduction of Inner Retinal Thickness in Patients with Autosomal Dominant Optic Atrophy Associated withOPA1Mutations

Abstract

PURPOSE.To determine the morphologic changes in the retina in the macula and around the optic disc in patients with autosomal dominant optic atrophy (ADOA) associated with a mutation in the OPA1 gene. METHODS. Cross-sectional images of the macular area of the retina were obtained by optical coherence tomography (OCT) in patients with ADOA who had a heterozygous mutation in the OPA1 gene. There were 15 eyes of eight patients from five families: four men and four women. The average age of the patients was 48.1 years. In the OCT images, the cross sections of the sensory retina were divided manually into four areas. The thickness of the overall sensory retina and the divided areas were measured at 1 and 2 mm on the temporal, nasal, superior, and inferior sides of the fovea as well as at the fovea. The thickness of the retinal nerve fiber layer (RNFL) around the optic discs was measured by taking circular scans (3.4 mm in diameter) centered on the optic disc. The results in the patients with ADOA were compared with those from 11 normal control subjects. RESULTS. The overall thickness of the sensory retina in the macular area was significantly thinner in the patients with ADOA than in the control subjects at all points except the fovea (P Ͻ 0.0001). The RNFL in the macular area in the patients with ADOA was significantly thinner than that in control subjects at all points (P Ͻ 0.0001), especially at 1 mm from the fovea. The circumpapillary RNFL was significantly thinner at the temporal, superior, and inferior areas in patients with ADOA but not in the nasal area. The total cross-sectional area of the circumpapillary RNFL was significantly correlated with visual acuity. The thickness of the combined ganglion cell layer, inner plexiform layer, inner nuclear layer, and outer plexiform layer in the macular area was significantly thinner in the patients (P Ͻ 0.0056). The thickness of the outer nuclear layer and the photoreceptor inner segments and the thickness of the photoreceptor outer segments were not significantly different between the patients with ADOA and normal control subjects. CONCLUSIONS. The RNFL and the layer including the ganglion cell layer are significantly thinner in patients with ADOA associated with an OPA1 gene mutation, whereas the photoreceptor layers are not affected morphologically. The inner retina is the main area of the retina altered in ADOA. (Invest Ophthalmol Vis Sci. 2007;48:4079 -4086)

Optical coherence tomography findings in spinocerebellar ataxia-3

“…10 On the other hand, the cause of RNFL loss in Alzheimer's and Parkinson's disease is multifactorial, including degeneration of RGC and through retrograde degeneration due to the loss of cortical neurons. 5,11,12 Pula et al 9 found a statistical significant decrease of mean macular thickness in five patients affected of SCA-3 compared with a control group.…”

Drug-Related Mitochondrial Optic Neuropathies

“…The red Amsler grid is a particularly useful screening test. OCT is a useful ancillary test in the subacute and chronic stages by measuring the RNFL thickness and confirming thinning involving the PMB beginning in the inferotemporal sector (11)(12)(13)(14). In the later stages, OCT demonstrates thinning of RNFL thickness in all quadrants (9).…”

Macular Thickness Profiles of Intraretinal Layers in Myopia Evaluated by Ultrahigh-Resolution Optical Coherence Tomography

“…[7][8][9][10] These studies have shown that the thickness of specific retinal layers can help to diagnose and monitor pathologic changes in the macula resulting from retinal diseases, 11,12 glaucoma, 13 and optic neuropathy. 14 Several studies have used OCT to investigate relationships between variations in macular thickness and myopia. [15][16][17][18] The thicknesses of the retinal nerve fiber layer (NFL), ganglion cell layer (GCL), and inner plexiform layer (IPL) were reported by some authors to be thinner in myopic eyes compared to normal eyes.…”