Bilateral Loss Of Central Vision Research Articles

Reading with central vision loss: binocular summation and inhibition.

PurposeThere are conflicting reports as to whether there is a binocular advantage or disadvantage when reading with central vision loss. This study examined binocular reading summation in patients with macular degeneration.MethodsSeventy‐one patients with bilateral central vision loss [mean age: 63 (S.D. = 21) years] participated. Reading performances during binocular and monocular viewing with the better eye (i.e., the eye with the best monocular visual acuity) were evaluated using different versions of the Italian MNREAD reading chart (www.precision‐vision.com). Fixation stability and preferred retinal loci (PRLs) were recorded monocularly for each eye. The overall sample was split into inhibition, equality, and summation groups based on the binocular ratio (i.e., binocular/monocular) of the maximum reading speed.Results41% of patients experienced binocular inhibition, 42% summation, and 17% equality. Binocular reading speed of the inhibition group was approximately 30 words per minute slower than those of the equality and summation groups, although the inhibition group had the best visual acuity. These patients generally had monocular PRLs in non‐corresponding locations temporal or nasal to the scotoma, had the largest interocular acuity difference and lacked residual stereopsis. The three groups did not differ in fixational control, contrast sensitivity or critical print size.ConclusionsEqual proportions of patients with central vision loss show binocular reading summation and inhibition. Patients with binocular reading inhibition have poorer reading performance and different clinical characteristics than those with binocular reading summation and equality.

In vitro stem cell modelling demonstrates a proof-of-concept for excess functional mutant TIMP3 as the cause of Sorsby fundus dystrophy.

Sorsby fundus dystrophy (SFD) is a rare autosomal dominant disease of the macula that leads to bilateral loss of central vision and is caused by mutations in the TIMP3 gene. However, the mechanisms by which TIMP3 mutations cause SFD are poorly understood. Here, we generated human induced pluripotent stem cell-derived retinal pigmented epithelial (hiPSC-RPE) cells from three SFD patients carrying TIMP3 p.(Ser204Cys) and three non-affected controls to study disease-related structural and functional differences in the RPE. SFD-hiPSC-RPE exhibited characteristic RPE structure and physiology but showed significantly reduced transepithelial electrical resistance associated with enriched expression of cytoskeletal remodelling proteins. SFD-hiPSC-RPE exhibited basolateral accumulation of TIMP3 monomers, despite no change in TIMP3 gene expression. TIMP3 dimers were observed in both SFD and control hiPSC-RPE, suggesting that mutant TIMP3 dimerisation does not drive SFD pathology. Furthermore, mutant TIMP3 retained matrix metalloproteinase activity. Proteomic profiling showed increased expression of ECM proteins, endothelial cell interactions and angiogenesis-related pathways in SFD-hiPSC-RPE. By contrast, there were no changes in VEGF secretion. However, SFD-hiPSC-RPE secreted higher levels of monocyte chemoattractant protein 1, PDGF and angiogenin. Our findings provide a proof-of-concept that SFD patient-derived hiPSC-RPE mimic mature RPE cells and support the hypothesis that excess accumulation of mutant TIMP3, rather than an absence or deficiency of functional TIMP3, drives ECM and angiogenesis-related changes in SFD. © 2020 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

Effect of Disease Progression on the PRL Location in Patients With Bilateral Central Vision Loss.

PurposeTo investigate the effect of disease progression on the monocular preferred retinal locus (PRL) of the better eye (BE) and worse eye (WE) of patients with central vision loss.MethodsFifty-one patients with bilateral macular diseases were included. The monocular PRL was recorded for each eye (N = 102 eyes) with the MP-1 microperimeter in two visits that were 458 ± 249 days apart. For each eye and visit, the PRL distance from the former fovea, polar angle, and scotoma size were measured. The change in PRL location from visit 1 to visit 2 was evaluated with the differential map analysis.ResultsScotoma size increased significantly in both eyes. The PRL distance from the former fovea increased significantly from visit 1 to visit 2 in the BE, but not in the WE. The polar angle was relatively stable in both visits for the BE. The change in PRL location in the BE was predicted only by the PRL distance from the former fovea in visits 1 and 2, but not by polar angle or scotoma size. For the WE, the change in PRL location depended on the change in PRL location in the BE, rather than on measurements made on that eye.ConclusionsDisease progression affects monocular PRL location differently in the 2 eyes. The results suggest a recalibration of the oculomotor system with its reference at the PRL from the BE.Translational RelevanceThese findings are important for deciding the course of treatment and/or for developing rehabilitation techniques focusing on PRL relocation.

Inherited Macular Dystrophies in a Tertiary Care Centre.

Inherited macular dystrophies constitute a group of diseases characterized by bilateral central visual loss with symmetrical macular abnormalities usually presenting in the first two decades of life. The aim of this study were to find out the demographic characteristics and disease pattern of inherited retinal dystrophies in subjects attending retina outpatient department in a tertiary care center. An observational study among twenty-six participants diagnosed as macular dystrophy visiting a tertiary care centre in Nepal, during January 2018 to June 2018 were included in the study. Detailed history, slit lamp examination, dilated fundus examination, coloured fundus photography, full field electroretinogram, multifocal electroretinogram, automated visual field and colour vision were done. A total of 52 eyes of 26 subjects were diagnosed with macular dystrophy. The male to female ratio was 1:1. The mean age of presentation was 28.38 years. Most common symptom was blurring of vision seen in 96.15%.The mean visual acuity was 0.67 log mar units in right eye and 0.71 log mar units in the left eye. The most common macular dystrophy was cone dystrophy followed by adult vitelliform macular dystrophy and Stargardts dystrophy. Cone dystrophy is the most common followed by Stargardt's disease and adult vitelliform macular dystrophy. Most presented in the first two decades of life and the most common presenting symptom was blurring of vision.

Role of multifocal electroretinogram in the prediction of visual prognosis in patients with occult macular dystrophy

Background Occult macular dystrophy (OMD) is a rare hereditary macular dystrophy characterized by severe bilateral progressive loss of central vision with normal fundus appearance and normal fundus fluorescein angiography.Aim The aim of this study was to assess the correlation between multifocal electroretinogram (mf-ERG) parameters and best-corrected visual acuity (BCVA) in patients with OMD.Patients and methods In all, 20 eyes of 10 patients with OMD and 20 eyes of 10 age-matched and sex-matched normal individuals were included in this study. Full ophthalmic examination, fundus fluorescein angiography, optical coherence tomography, full-field ERG and mf-ERG were performed for all participants. The average amplitude density of P1 wave, amplitude, and implicit time of P1 and N1 waves were recorded in the five concentric hexagonal rings. Correlation between these mf-ERG parameters and BCVA (LogMAR) was analyzed.Results There were no statistically significant differences in age, sex, and refraction between the studied groups (P=0.54, 1.0, and 0.82, respectively). Mf-ERG parameters in OMD patients showed significant central depression with less affection of peripheral rings. The average amplitude density of P1 wave and the amplitude of P1 and N1 waves were significantly reduced in the central rings (rings 1, 2, and 3), with less impairment in paracentral areas (rings 4 and 5). The implicit time of P1 and N1 waves were significantly delayed across the central rings in OMD patients. The BCVA (LogMAR) was significantly negatively correlated with the amplitude of P1 and N1 waves (P≤0.001). The BCVA (LogMAR) was significantly positively correlated with the implicit time of P1 and N1 waves (P≤0.001). Multiple regression analysis demonstrated that the amplitude and latency of P1 and N1 waves in the central rings (1 and 2) were the most important determinants for BCVA.Conclusion Mf-ERG has a key role in the detection of OMD and can be considered as a valuable objective test for the detection of central/macular dysfunction. The amplitude and latency of P1 and N1 waves in rings 1 and 2 may be used as biomarkers for the prediction of visual prognosis in these patients.

Human induced pluripotent stem cell‐derived retinal pigment epithelial cell model of Sorsby fundus dystrophy

AbstractSorsby fundus dystrophy (SFD) is a rare degenerative disease of the macular retina, caused by mutations in the tissue inhibitor of matrix metalloproteinase‐3 (TIMP3) gene. SFD leads to bilateral loss of central vision and shows significant clinical overlap with the more common age‐related macular degeneration, suggesting shared underlying mechanisms. In SFD the mutant TIMP‐3 deposits under the retinal pigment epithelium (RPE), leading to pathological sub‐RPE thickening, but the initiating pathology is poorly understood. We have established patient specific human induced pluripotent stem cell (hiPSC) lines from three SFD patients carrying Ser204Cys mutation in TIMP3 gene, and three healthy controls. The hiPSC lines were extensively characterized and differentiated to RPE. SFD‐iPSC‐RPE showed no difference in RPE properties such as morphology, gene or protein expression, phagocytosis capacity or growth factor secretion compared to control‐hiPSC‐RPE. SFD‐iPSC‐RPE showed lowered epithelial resistance, and transmission electron microscopy indicated basal laminar changes and deposits under the SFD‐iPSC‐RPE. Quantitative proteomics analyses indicated upregulation of retinal degeneration associated pathways and accumulation of related proteins including apolipoprotein E. Western blotting verified clear accumulation of the TIMP3 protein in the SFD‐iPSC‐RPE cultures. Overall, the SFD‐iPSC‐RPE cell models recapitulate the disease phenotype in vitro for the study of disease mechanisms.

Terson’s syndrome

A 49-year-old woman presented with an acute intense headache with nausea and vomiting, followed by loss of consciousness. CT scan of head showed diffuse subarachnoid haemorrhage involving the interpeduncular cistern...

Biofeedback fixation training method for improving eccentric vision in patients with loss of foveal function secondary to different maculopathies

PurposeFixation stability (FS) of the preferred retinal locus (PRL) may be improved by biofeedback fixation training (BFT) with microperimetry. Such training can be done on the patient’s PRL or in different retinal loci with better functional characteristics. We studied both options and compared the outcomes.MethodsSixty-seven consecutive patients with bilateral central vision loss, poor FS and visual acuity (VA) lower than 0.3 LogMAR were recruited for BFT with microperimeter. Patients were assigned into 2 groups. In group A, BFT was performed on the patient’s spontaneous PRL. In group B, PRL was located between 2 adjacent loci with the highest light sensitivity and the lowest distance from the fovea. Two sets of 12 weekly BFT sessions were performed. Primary outcomes were: FS, VA and reading speed.ResultsOutcomes were statistically significantly better in group B. Mean percentage of FS at therapy end improved from 32 to 35% for group A and from 40 to 55% in group B. Mean VA improved from 1 to 0.86 in group A and from 1 to 0.84 in group B. Reading speed (wpm) improved from 56 to 58 in group A and from 63 to 89 in group B.ConclusionsThis study describes a reliable methodology of improving eccentric fixation stability using BFT in microperimetry, when the fixation training locus is individualized as the retinal area with best functional characteristics. Further studies are needed to validate its value in a larger scale of patients, at different stages of the disease, and its persistence over time.

Acquired Bilateral Central Vision Loss in a Young Adult Due to “Poppers Maculopathy”

Acquired Bilateral Central Vision Loss in a Young Adult Due to “Poppers Maculopathy”

Contextual influences in the peripheral retina of patients with macular degeneration

Macular degeneration (MD) is the leading cause of low vision in the elderly population worldwide. In case of complete bilateral loss of central vision, MD patients start to show a preferred retinal region for fixation (PRL). Previous literature has reported functional changes that are connected with the emergence of the PRL. In this paper, we question whether the PRL undergoes a use-dependent cortical reorganization that alters the range of spatial lateral interactions between low-level filters. We asked whether there is a modulation of the excitatory/inhibitory lateral interactions or whether contextual influences are well accounted for by the same law that describes the integration response in normal viewers. In a group of 13 MD patients and 7 age-matched controls, we probed contextual influences by measuring the contrast threshold for a vertical target Gabor, flanked by two collinear high-contrast Gabors. Contextual influences of the collinear flankers were indicated by the changes in contrast threshold obtained at different target-to-flanker distances (λs) relative to the baseline orthogonal condition. Results showed that MDs had higher thresholds in the baseline condition and functional impairment in the identification tasks. Moreover, at the shortest λ, we found facilitatory rather than inhibitory contextual influence. No difference was found between the PRL and a symmetrical retinal position (non-PRL). By pulling together data from MD and controls we showed that in the periphery this inversion occurs when the target threshold approach the flankers’ contrast (about 1:3 ratio) and that for patients it does occur in both the PRL and a symmetrical retinal position (non-PRL). We conclude that contrary to previous interpretations, this modulation doesn’t seem to reflect use-dependent cortical reorganization but rather, it might result from a reduction of contrast gain for the target that promotes target-flankers grouping.

Leber's Hereditary Optic Neuropathy: Novel Views and Persisting Challenges.

Leber's hereditary optic neuropathy is an inherited form of optic neuropathy, genetically and pathophysiologically based on mitochondrial insufficiency causing bilateral loss of central vision mostly amongst young adults. Despite being one of the most common mitochondrial diseases, the explanation for its pathophysiological background and effective clinical solutions remain elusive. Widening the scope in the search for pathological findings beyond the optic system has yielded several non-ophthalmologic findings, which might imply that Leber's hereditary optic neuropathy is in fact a multi-systemic disease. The aim of this review is to provide an overview of literature regarding the epidemiology, etiology, pathogenesis, clinical features, diagnostics and possible treatment options and drug targets, as well as presenting challenges related to the disease and proposing a diagnostic algorithm based on current clinical experience.

Clinical Experience with the Implantable Miniature Telescope for End-stage Age-related Macular Degeneration

The implantable miniature telescope (IMT) is the first approved surgical treatment for visually impaired people with bilateral central vision loss due to end-stage age-related macular degeneration. The IMT – which is implanted unilaterally in the capsular bag following cataract extraction – provides 2.2x or 2.7x magnification of the central visual field. Clinical trial data suggest that the IMT can provide substantial and sustained improvements in best-corrected distance, near visual acuity, and patient quality of life metrics. These positive outcomes are heavily dependent on patient selection and screening, surgical technique, and postoperative rehabilitation, a treatment process that must be managed on an interdisciplinary basis over the course of 3–4 months. Here, we review the clinical trial data examining the safety and efficacy of the IMT, report our preliminary results with 13 real-world patients implanted with the commercial device (11 with follow-up data), define the key surgical techniques that contribute to optimal outcomes, and describe the anterior segment surgeon’s role in supporting both pre- and postoperative care. Nine eyes (82%) gained 4 or more lines of vision and two eyes (18%) did not gain any lines of vision.

The reading accessibility index and quality of reading grid of patients with central vision loss.

In this study we evaluated the reading accessibility index (ACC) and a quality of reading grid as assessment tools for reading and as outcome measures for reading rehabilitation of patients with central vision loss. Reading performances on the MNRead chart (www.precision-vision.com) were reviewed from our research database. Participants were 24 controls with normal vision [mean age: 34 (SD, 14) years] and 61 patients with bilateral central vision loss [mean age: 81 (SD, 9) years] among which a subgroup of 18 patients [mean age, 76 (SD, 13)years] had undergone perceptual learning training for reading rehabilitation. The outcome measures were maximum reading speed, reading acuity, critical print size, ACC, and the reading quality. A reading quality grid that classified reading speed as spot, slow, functional, or fluent and print size as small, regular, medium, or large was used. All reading speed values were normalised (i.e., divided by 200, the average reading speed in young adults with normal vision measured with the MNRead). The ACC was associated perfectly with the maximum reading speed in the control group (r22 =0.99, P<0.001) and strongly with all parameters of reading in the patient group (smallest r value: r59 =-0.66, P<0.001). For patients with central vision loss, reading was functional for large print, but slow for medium print and spot for regular print. For some patients with the same ACC values, the quality of reading grid revealed important performance differences. For the subgroup (n=18) of patients who were trained, the ACC revealed a greater effect of training than the other three parameters of reading, and although there were statistically significant improvements across all print size categories, a qualitative improvement in reading was noticed only for the medium print sizes. The ACC is a good measure of reading performance in patients with central vision loss. Examining reading quality for different print size categories can provide a more detailed picture of reading impairment and should be considered as an outcome for rehabilitation in addition to the ACC.

Functional changes at the preferred retinal locus in subjects with bilateral central vision loss.

Subjects with bilateral central vision loss (CVL) use a retinal region called the preferred retinal locus (PRL) for performing various visual tasks. We probed the fixation PRL in individuals with bilateral macular disease, including age-related macular degeneration (AMD) and Stargardt disease (STGD), for localized sensitivity deficits. Three letter words at the critical print size were presented in the NIDEK MP-1 microperimeter to determine the fixation PRL and its radial retinal eccentricity from the residual fovea in 29 subjects with bilateral CVL. Fixation stability was defined as the median bivariate contour ellipse area (BCEA) from 3 fixation assessments. A standard 10-2 grid (68 locations, 2° apart) was used to determine central retinal sensitivity for Goldmann size II test spots. Baseline and follow-up supra-threshold screening of the fixation PRL for localized sensitivity deficits was performed using high density (0.2° or 0.3° apart) 0dB Goldmann size II test spots. Custom MATLAB code and a dual bootstrapping algorithm were used to register test-spot locations from the baseline and follow-up tests. Locations where the 0dB test spots were not seen on either test were labeled as micro-scotomas (MSs). Median BCEA correlated poorly with the radial eccentricity of the fixation PRL. Mean (±SD) sensitivity around the PRL from 10-2 testing was 4.93±4.73dB. The average percentage of MSs was similar for patients with AMD (25.4%), STGD (20.3%), and other etiologies of CVL (27.1%). The fixation PRL in subjects with bilateral CVL frequently includes local regions of sensitivity loss.

The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy

Leber inherited optic neuropathy (LHON) is characterized by subacute bilateral loss of central vision due to dysfunction and loss of retinal ganglion cells (RGCs). Comprehensive visual electrophysiological investigations (including pattern reversal visual evoked potentials, pattern electroretinography and the photopic negative response) performed on 13 patients with acute and chronic LHON indicate early impairment of RGC cell body function and severe axonal dysfunction. Temporal, spatial and chromatic psychophysical tests performed on 7 patients with acute LHON and 4 patients with chronic LHON suggest severe involvement or loss of the midget, parasol and bistratified RGCs associated with all three principal visual pathways.

Fixation Stability Recording: How Long for Eyes with Central Vision Loss?

Fixation examination with the MP-1 microperimeter (Nidek Technologies Srl., Vigonza, PD, Italy) determines the preferred retinal loci and fixation stability in patients with central vision loss. It is typically done for periods of 15 to 30 s as per the manual's recommendations, which are arbitrary. In this study, we examined (1) whether fixation stability depends on the duration of recording and (2) whether fixation stability changes over time. Raw eye-position data from 76 patients with bilateral central vision loss (mean age = 80 ± 9.6 yrs) who had fixation examination recordings with the MP-1of at least 15 s were used. Bivariate contour ellipse areas (BCEAs) were calculated and compared for intervals of 0 to 5 s, 0 to 10 s, and 0 to 15 s and for three consecutive 5-s intervals (0-5 s, 5-10 s, and 10-15 s). Ellipse's centroid location, axes extent, and tilt angle were also evaluated for each of these intervals. BCEA worsened significantly with increasing the time of fixation recording (P < .001). Compared to the BCEA during the first 5 s of examination recording, median BCEA increased by a factor of 1.4 for the first 10 s and of 1.6 for the first 15 s of recording. However, the bivariate ellipses for the three consecutive 5-s intervals were the same in terms of area, centroid location, and axes extent, but differed significantly in tilt angle (P = .005). Fixation stability (BCEAs) results were also confirmed with an additional analysis performed on shorter sampling intervals. Fixation stability deteriorates with increasing duration of the fixation recording, but when fixation is evaluated in shorter consecutive 5-s intervals, only a difference in ellipse's tilt angle is found. These results suggest that the current recommendations for fixation stability recording with the MP-1 can be shortened to a less demanding duration.

Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G > A and m.14484T > C of the mitochondrial DNA

Leber's hereditary optic neuropathy (LHON) is an inherited mitochondrial disease that usually leads to acute or subacute bilateral central vision loss. In 95% of cases, LHON is caused by one of three primary mutations of the mitochondrial DNA (mtDNA), m.11778G>A in the MT-ND4 gene, m.14484T>C in the MT-ND6 gene, or m.3460G>A in the MT-ND1 gene.Here we characterize clinically, genetically, and biochemically a LHON family with multiple patients harboring two of these primary LHON mutations, m.11778G>A homoplasmic and m.14484T>C heteroplasmic.The unusually low male-to-female ratio of affected family members is also seen among the other patients previously reported with two primary LHON mutations m.11778G>A and m.14484T>C. While the index patient had very late onset of symptoms at 75years and severe visual loss, her two daughters had both onset in childhood (6 and 9years), with moderate to mild visual loss. A higher degree of heteroplasmy of the m.14484T>C mutation was found to correlate with an earlier age at onset in this family.Ours is the first LHON family harboring two primary LHON mutations where functional studies were performed in several affected family members. A more pronounced bioenergetic defect was found to correlate with an earlier age at onset. The patient with the earliest age at onset had a more significant complex I dysfunction than all controls, including the LHON patient with only the m.11778G>A mutation, suggesting a synergistic effect of the two primary LHON mutations in this patient.

267. Phase I Gene Therapy Preliminary Clinical Results for Treatment of ND4 Leber Hereditary Optic Neuropathy with rAAV2-2-ND4

Introduction Leber Hereditary Optic Neuropathy (LHON) is a rare mitochondrial genetic disorder predominantly affecting young males. Affected patients experience bilateral severe central vision loss. Currently no therapy is approved in the United States to prevent, halt or reverse vision loss due to LHON. Preliminary safety and pharmacodynamic results of a first-in-man trial of GS010, a gene therapy candidate for patients with LHON carrying the ND4 mutation will be presented. Methods GS010 is a recombinant adeno-associated viral vector, serotype 2, carrying the wild-type ND4 gene (rAAV2/2-ND4) and is an experimental gene therapy for the treatment of LHON due to the G11778A ND4 mitochondrial mutation. GS010 has received orphan drug designation in EU & USA. GS010 contains a Mitochondrial Targeting Sequence (MTS) that allows localization of the wild-type protein to the mitochondrion, enabling restoration of mitochondrial function. An open-label Phase I/IIa safety study (NCT02064569) included patients with vision loss due to ND4 LHON and has completed recruitment. Four dose escalation cohorts and an extension cohort were comprised of 3 patients each. Patients received a single intra-vitreal injection of rAAV2/2-ND4 in their worse seeing eye. Primary outcome was the occurrence of adverse events (AE). Secondary outcomes included immune response to AAV2 and evaluation of visual function. Results Systemic safety was excellent as no unexpected adverse events occurred. Ocular tolerability was good with mostly mild inflammation that were responsive to and resolve with standard therapies. Of the first 9 patients with 48 week follow up, preliminary results indicate that symptom duration could impact magnitude of treatment effect. Additionally, baseline vision status at time of treatment also indicate a relation with potential greater magnitude of effect which was noted with relatively shorter disease duration (< 2 years). These data confirm the importance of treating early from onset of vision loss. The RESCUE (NCT02652767) and REVERSE (NCT02652780) Phase III studies of GS010 have been initiated in the United States and some European Union countries. Both studies are randomized, double-masked, sham-controlled trials and will specifically include patients up to 6 months and one year after the onset of vision loss.

Leber hereditary optic neuropathy: current perspectives.

Leber hereditary optic neuropathy (LHON) is one of the most common inherited optic neuropathies causing bilateral central vision loss. The disorder results from point mutations in mitochondrial DNA and subsequent mitochondrial dysfunction. The primary cell type that is lost in LHON is the retinal ganglion cell, which is highly susceptible to disrupted ATP production and oxidative stress. Inheritance of LHON follows that of mitochondrial genetics, and it has a highly variable clinical phenotype, as other genetic and environmental factors also play a role. Although LHON usually presents with isolated vision loss, some patients suffer other neurological sequelae. For ill-defined reasons, male LHON mutation carriers are more affected than females. Most LHON patients remain legally blind, but a small proportion can experience spontaneous partial recovery, often within the first year of symptom onset. Unfortunately, at this time there are no established curative interventions and treatment is largely supportive. Patients should be offered low vision services and counseled on mitigating risk factors for additional vision loss, such as smoking and consuming alcohol. Encouraging treatments currently undergoing investigation includes ubiquinone analogs, such as idebenone, as well as gene therapy and stem cells to restore ATP synthesis and provide neuroprotection to surviving retinal ganglion cells.

Beyond Eye Care – Low Vision Rehabilitation of a Patient with Recent-Onset Leber’s Hereditary Optic Neuropathy: A Case Report

Leber’s hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial deoxyribonucleic acid (DNA) mutation that results in painless, sudden-onset, bilateral central vision loss and dyschromatopsia. Currently, there are no proven treatments to prevent or reverse the optic neuropathy in LHON. Accordingly, individualized rehabilitation services and assistive devices for low vision are crucial for helping people with LHON to regain independence and quality of life. This report describes the impact of multidisciplinary low vision rehabilitation on a young man with recent-onset LHON and emphasizes the importance of the provision of emotional support through counselling for low vision.