Bilateral Central Scotomas Research Articles

Clinical and Structural Parameters in Autosomal Dominant Optic Atrophy Patients: A Cross-Sectional Study Using Optical Coherence Tomography

Background: Autosomal Dominant Optic Atrophy (ADOA) is a hereditary optic neuropathy characterized by retinal ganglion cell degeneration and optic nerve fiber loss. This study examined the correlation between clinical and structural parameters in patients with ADOA using optical coherence tomography (OCT) and explored potential clinical biomarkers. Methods: A cross-sectional, case–control observational study included 27 patients with ADOA and 27 age- and sex-matched healthy controls. Clinical examinations, OCT imaging, and OCT angiography (OCTA) were performed. Statistical analyses were conducted to establish correlations between clinical and OCT parameters. Results: Patients with ADOA exhibited gradual bilateral vision loss, central scotomas, and optic disc pallor. Structural OCT analysis revealed significant reductions in central macular thickness, macular volume, ganglion cell complex (GCC), and peripapillary retinal nerve fiber layer compared with controls. Correlation analysis demonstrated associations between worsening clinical parameters (best corrected visual acuity, Sloan Letters Low Contrast Chart 25%, Pseudoisochromatic Test) and increased OCT damage (structural and OCTA). GCC emerged, at least at exploratory terms, as the most important clinical biomarker in patients with ADOA given its multiple positive functional associations, while OCTA parameters correlated with visual field defects. Conclusions: Our study revealed significant correlations between clinical and structural parameters in patients with ADOA, highlighting the importance of OCT in assessing disease severity. GCC measurement shows promise as a clinical biomarker, aiding in disease monitoring. OCTA parameters offer potential early biomarkers for vascular changes. These findings contribute to understanding ADOA pathophysiology and may improve patient diagnosis and management. Further research is warranted to validate these findings and explore potential therapeutic interventions.

Case report: Acute macular neuroretinopathy post-COVID-19 infection.

Acute macular neuroretinopathy (AMN) is a rare disease that causes transient or permanent visual disturbance. The exact etiology remains unknown, but vascular compromise of the deep retinal capillary plexus was postulated as the main mechanism. Retinal vascular event post-coronavirus disease 2019 (COVID-19) infection is recently highlighted during the pandemic, which includes AMN. To report a case of AMN post-COVID-19 infection. A 24-year-old Indian woman presented with acute-onset painless bilateral central scotoma for a day. The symptom was preceded by a history of COVID-19 infection 3 weeks prior. Ocular examination revealed a near-normal visual acuity for both eyes. Fundus examination showed bilateral dull foveal reflex with mild scattered cotton wool spot and vascular tortuosity. Optical coherence tomography macula revealed a distinct short hyperreflective band involving the outer plexiform and outer nuclear layers nasal to the fovea. The Bjerrum perimetry test revealed central scotoma temporal to the fixation. Optical coherence tomography lesions and scotomas are identical and congruous in both eyes. Serial fundus photographs are captured showing the evolving changes of near-normal macula to pigmented wedge-shaped petaloid lesions around the fovea. The patient was diagnosed as bilateral AMN and treated with oral prednisolone. On subsequent follow-up, the central scotoma improved. This case illustrates a clear temporal and possible causal relationship of COVID-19 infection with AMN. Further studies and data are required to justify its association, but the rising cases of AMN shall be anticipated as COVID-19 infections have become endemic worldwide.

GRAND ROUNDS: A 22-year-old woman with alcoholic pancreatitis and bilateral central scotomata

A 22-year-old woman presented emergently at Kelowna General Hospital, British Columbia, with a 3-day history of epigastric pain with radiation to her back. This was assessed to be alcoholic pancreatitis, and she was admitted to the hospital for supportive care. Approximately 2 hours into her admission, she reported new-onset, binocular, blurry vision but no pain, flashes, floaters, or scotomata. On the third day of admission, the patient reported new-onset, bilateral, patchy central vision loss. Given the evolution of her vision loss, the ophthalmology service was consulted.

Lamotrigine‐associated macular phototoxicity in Asperger syndrome

Purpose: Asperger's syndrome is a neurodevelopmental disorder that falls within the autism spectrum disorder family. Comorbid conditions such as depression and anxiety are commonly associated, and lamotrigine is often prescribed off‐label for treatment. It has the capacity to absorb ultraviolet (UV) light and generate free oxygen radicals, which can potentially cause cellular damage. In this case report, we present multimodal imaging findings in a patient diagnosed with solar maculopathy.Methods: A young patient was referred to our department for bilateral visual decline and central scotoma. The patient was examined with multimodal imaging including fundus photography, fundus autofluorescence (FAF), swept‐source optical coherence tomography (SS‐OCT) and multifocal electroretinogram.Results: A 25‐year‐old patient with Asperger's syndrome treated with lamotrigine was referred to our department for bilateral visual decline and central scotoma. Best corrected visual acuity (BCVA) was 0.40 in both eyes. Dilated fundus examination revealed a bilateral yellow foveal lesion. Fundus autofluorescence (FAF) imaging showed foveal hyperautofluorescence. SS‐OCT in the macular region of both eyes showed a disruption of the ellipsoid zone and the external limiting membrane. Upon further questioning, the patient disclosed history of repeatedly gazing at the sun. The diagnosis of solar maculopathy associated with lamotrigine was established.Conclusion: This is the second report of lamotrigine associated retinal phototoxicity. Lamotrigine, recognized as a photosensitizer, may induce a photochemical response, with retinal phototoxicity. Caution must be exercised to educate patients about the importance of not gazing directly at the sun, as it van cause irreversible retinal impairment.

OPA1 Dominant Optic Atrophy: Pathogenesis and Therapeutic Targets.

OPA1 Dominant Optic Atrophy: Pathogenesis and Therapeutic Targets.

Three-Month Safety and Efficacy Outcomes for the Smaller-Incision New-Generation Implantable Miniature Telescope (SING IMT™).

The smaller-incision new-generation implantable miniature telescope (SING IMT™) is the second generation of the IMT™, a telescope prosthesis that is indicated for monocular implantation in patients with stable vision impairment caused by bilateral central scotomas associated with end-stage Age-related macular degeneration (AMD). This non-comparative retrospective study is the first and largest single-surgeon case series to evaluate the short-term (3 months) safety and efficacy of the device in patients with disciform scars or geographic atrophy at baseline. The main outcome measures included best-corrected distance and near visual acuity (CDVA and CDNVA, respectively), endothelial cell density (ECD) loss, and the incidence of complications. At postoperative month 3 in the study eyes, mean CDVA and CDNVA improved by +14.9 ± 7.1 letters and +7.7 ± 3.2 Jaeger levels, respectively. Importantly, 70.83% of patients gained ≥ 2 lines, 58.33% ≥ 3 lines, and 25.00% ≥ 4 lines of CDVA. From baseline, ECD loss in the study eyes was 10.4 ± 13.3% at 3 months, however, ECD was comparable between the study and fellow eyes at all time points. The most common complication was corneal edema. In all, these short-term outcomes suggest that the SING IMT™ delivers lower ECD loss than the first-generation IMT ™, but similar visual outcomes and safety.

Effectiveness of visual and acoustic biofeedback eccentric viewing training in conjunction with home exercises on visual function: a retrospective observational review

ABSTRACT The aim of this study is to evaluate the effectiveness of an eccentric viewing training program that combines biofeedback training using micro-perimetry with home exercises on multiple visual function parameters and to explore potential relationships between post-treatment visual function parameters. A retrospective observational review of 27 participants who underwent the training program was performed. Eligible participants were diagnosed with bilateral central scotomas secondary to age-related macular degeneration. All participants undertook up to 15 visual and acoustic biofeedback training sessions and were required to partake in traditional home exercises between sessions. The biofeedback training was conducted in the better eye using the Macular Integrity Assessment microperimeter (MAIA). Distance and near acuity, contrast sensitivity and fixation stability quantified by the P1 and P2 values and the 63% and 95% bivariate contour ellipse area (BCEA) before and after the rehabilitation program were recorded. Significant improvement was noted post-training for distance visual acuity (t(26) = 4938 p = .000), near visual acuity (Z = −4.461 p = .000), contrast sensitivity (Z = −3.647 p = .000) and fixation stability for all measures, including P1 (t(26) = −9.490 p = .000), P2 (t(26) = −7.338 p = 0.000), 63% BCEA (Z = 3.569 p = .000) and 95% BCEA (t(26) = 4.687 p = .000). Significant medium-to-large correlations were also found between most visual function variables. Visual and acoustic biofeedback in conjunction with home exercises has the potential to improve visual function parameters in patients with age-related macular degeneration and irreversible central vision loss.

Traitements médicaux dans la neuropathie optique héréditaire de Leber

Leber's hereditary optic neuropathy (LHON) is a maternally inherited disease caused by a mutation of mitochondrial DNA. LHON targets retinal ganglion cells (RGC), whose axons form the optic nerve. The mutation that leads to LHON is silent until an unknown trigger causes dysfunction of complex I in the mitochondria of RGC. This results in discontinuation of RGC energy production and, eventually, RGC apoptosis. Patients experience bilateral sequential central scotoma over the course of a few months, with a minority recovering some vision more than 1 year after the onset of visual loss.No pharmacological treatment is recommended unless patients are symptomatic in at least one eye, as most LHON mutation carriers never experience visual loss. Research has been focused on treatments that are thought to restore the mitochondrial electron transport chain in RGC in patients with recent disease onset (<1 year). Significant advances have been made in evaluating free radical cell scavengers and gene therapy as potential treatments for LHON. Although promising, the results of clinical trials have been mixed. In patients with chronic visual loss for more than 1 year, treatment that restores vision is yet to be discovered.In this review, we summarize management strategies for patients with LHON before, during, and after the loss of vision, explain the rationale and effectiveness of previous and current treatments, and report findings about emerging treatments.

Transient Bilateral Central Scotoma on Awakening: A Distinct Phenomenon.

Transient vision loss can be an alarming symptom owing to potentially serious etiologies such as thromboembolism or giant cell arteritis. Transient monocular vision loss (TVML) on awakening has been recently described as a benign phenomenon (Bouffard et al, 2017). Our objective was to describe the unique phenomenon of transient binocular vision loss (TBVL) on awakening. Retrospective observational case series of 5 patients who experienced TBVL on awakening seen in the neuro-ophthalmology clinic at the Mayo Clinic between 2016 and 2020. Patients who described generalized blurred vision and those with monocular transient vision loss were excluded. The median age was 81.4 years (range, 68-92 years), and all were male. Every patient described a stereotyped transient bilateral central scotoma on awakening with slightly irregular borders and mild asymmetry between the 2 eyes lasting between 15 and 90 minutes. Frequency ranged from 3 to 7 times per week, and there was a median of 319 episodes (range, 126-728 episodes) before evaluation in the neuro-ophthalmology clinic. All patients had normal optic nerves, and no plaques were noted in the retinal vessels. All 5 had macular drusen, which were predominantly extrafoveal and mild. Two patients underwent electrophysiology testing, which were both normal on full-field electroretinogram (ERG), but there was blunted central wave forms on multifocal ERG. Two patients underwent dark adaptation testing, which showed both prolong and diminished dark adaptation. Neuroimaging and thromboembolic workup were unrevealing. TBVL is a distinct phenomenon from TMVL on awakening, which has a different demographic and symptomology. The etiology is unclear but seems to be a focal macular process in conjunction with an autoregulatory failure resulting in a supply-demand mismatch during low-light conditions.

Solar Eclipse Induced Retinopathy: A Case Report

Purpose: To report a case of solar eclipse induced retinopathy. Case Report: A 19 years old male presented to Chittagong Eye Infirmary and Training Complex with a 4-day history of bilateral central scotoma following 10-15 minutes of direct sun-gazing during the solar eclipse on 26th December 2019. On general examination, he was of normal built and height for his age. Upon ocular examination, his BCVA was 6/9 in both eyes. Slit-lamp microscopic examination showed clear cornea in both eyes. Pupils of both eyes were round, regular and reacting. Lens was clear in both eyes. Fundus examination revealed discrete yellow lesions at the fovea of both eyes. Optical coherence tomography scanning showed corresponding retinal pigment epithelial defects in both eyes. The patient was managed conservatively with regular follow-up and counseling was done regarding guarded visual prognosis. Conclusion: Observing a solar eclipse directly can cause permanent eye damage hence public awareness of the dangers should be encouraged.

Benefit of Stimulus Size V Perimetry for Patients With a Dense Central Scotoma From Leber's Hereditary Optic Neuropathy.

PurposeLeber's hereditary optic neuropathy (LHON) is the most common mtDNA optic neuropathy. It most frequently causes dense bilateral central scotomas that are often characterized in clinical studies by Humphrey visual field testing (HVF) using a stimulus size III. This provides numerical quantification of the visual field defect using the mean deviation. However, this size III testing strategy has limitations. We used stimulus size V to monitor these patients and evaluated intertest variability and dynamic range to determine the testing reliability and reproducibility.MethodsThis was a longitudinal retrospective cohort study comparing Stimulus III and Stimulus V HVF of 62 LHON patients who had reached the plateau stage of the disease. The intertest variability and mean defect were calculated for both stimulus sizes for 38 patients. The mean defect for stimulus size V was calculated using an algorithm developed by the University of Iowa Visual Field Reading Center.ResultsStimulus size V HVFs had lower inter-test variability as measured by mean defect standard deviation (Z = 169, P < 0.01). The floor effect seen with Stimulus III HVF in LHON, was less pronounced with Stimulus V HVF. The correlation of stimulus size III and V mean defect was strong (r = 0.90, P < 0.01), and a mathematical model was constructed to calculate the Stimulus size V mean defect from the Stimulus size III results (MDstimV = 0.988 x MDStimIII + 1.35, R2 = 0.82 P < 0.01).ConclusionsStimulus size V HVF had lower intertest variability and a better dynamic range than Stimulus size III HVF in LHON patients. This makes the stimulus V HVF a more reliable metric to follow LHON patients especially in clinical trials. The mathematical model presented can be used to generate a Stimulus V equivalent mean defect from Stimulus III HVFs.Translational RelevanceUsing Stimulus V HVF in LHON patients increases its ability to detect and quantify a response to treatment, making it a useful metric for future LHON clinical trials and the clinical setting.

Leber Hereditary Optic Neuropathy: Review of Treatment and Management.

Leber hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease that specifically targets the retinal ganglion cells by reducing their ability to produce enough energy to sustain. The mutations of the mitochondrial DNA that cause LHON are silent until an unknown trigger causes bilateral central visual scotoma. After the onset of loss of vision, most patients experience progressive worsening within the following months. Few of them regain some vision after a period of ~1 year. Management of LHON patients has been focused on understanding the triggers of the disease and its pathophysiology to prevent the onset of visual loss in a carrier. Medical treatment is recommended once visual loss has started in at least one eye. Research evaluated drugs that are thought to be able to restore the mitochondrial electron transport chain of the retinal ganglion cells. Significant advances were made in evaluating free radical cell scavengers and gene therapy as potential treatments for LHON. Although encouraging the results of clinical trial have been mixed in stopping the worsening of visual loss. In patients with chronic disease of over 1 year, efficient treatment that restores vision is yet to be discovered. In this review, we summarize the management strategies for patients with LHON before, during, and after the loss of vision, explain the rationale and effectiveness of previous and current treatments, and report findings about emerging treatments.

Legionnaire\u2019s disease presenting as bilateral central scotomata: a case report

BackgroundLegionnaire’s disease is one of the major causes of community-acquired pneumonia and is occasionally complicated by neurological symptoms. However, reports of ocular lesions due to Legionnaire’s disease are limited.Case presentationWe report the case of a patient with Legionnaire’s disease presenting as bilateral central scotomata due to retinal lesions. The patient consulted due to fever and bilateral central scotomata, as well as other extrapulmonary symptoms. Optical coherence tomography (OCT) showed bilateral accumulations of fluid under the retina, and the patient was diagnosed with bilateral exudative retinal detachment. Later, Legionnaire’s disease was confirmed by pulmonary infiltrates on chest imaging and positive urinary antigen for Legionella pneumophila. After administration of antibiotics, the bilateral central scotomata and bilateral subretinal fluid accumulations completely resolved, as did the other extrapulmonary symptoms and the pulmonary infiltrates. Thus, the bilateral central scotomata due to exudative retinal detachment were thought to be caused by Legionnaire’s disease.ConclusionsThis case demonstrates that Legionnaire’s disease can present as bilateral central scotomata. We may consider the possibility of extrapulmonary involvement complicating Legionnaire’s disease when we encounter bilateral ocular lesions in patients with fever and pneumonia.

Eccentric viewing training for low-vision rehabilitation in patients with central scotoma

Objective The aim was to evaluate the value of subjective eccentric viewing (EV) training in vision rehabilitation in patients with central scotoma. Background EV, also known as eccentric fixation, involves identifying a functioning area of the retina that has reasonable sensitivity, and is as close to the fovea as possible, and to learn to use it effectively, which is known as preferred retinal locus. Materials and Methods The direction of EV was monitored in 33 low-vision patients with bilateral central scotomas, the preferred retinal locus was identified, and the preserved visual field was found. The patients were divided randomly into two groups regarding their use of optical low-vision devices with EV training. After 2 months of training, changes in near and far best-corrected visual acuity (BCVA) and reading speed were evaluated. Results After 2 months of EV training, near BCVA and mean reading speed significantly improved. Regarding the use of low-vision devices, the group that used low-vision devices with EV training showed significant improvement in the near and far BCVA than the group that did not use low-vision device. Conclusion EV training can be used as a very effective method for low-vision rehabilitation in patients presented with central scotomas, and it can give very good results using simple and inexpensive equipment.

Eccentric viewing training for low-vision rehabilitation in patients with central scotoma

Background Eccentric viewing (EV), also known as eccentric fixation, involves identifying a functioning area of the retina that is as close to the fovea as possible and to learn to use it effectively, which is known as the preferred retinal locus. Objective The aim of this study was to evaluate the value of subjective EV training in vision rehabilitation in patients with central scotoma. Patients and methods The direction of EV was monitored in 33 low-vision patients with bilateral central scotomas. The preferred retinal locus was identified, and the preserved visual field was found. The patients were divided randomly into two groups regarding their use of optical low-vision devices with EV training. After 2 months of training, changes in near and far best-corrected visual acuity (BCVA) and reading speed were evaluated. Results After 2 months of EV training, the near BCVA and mean reading speed significantly improved, whereas the far BCVA did not significantly improve (0.1 LogMar on average). The mean near BCVA improved from 0.97±0.19 to 0.63±0.26 LogMar (P Conclusion EV training can be used as a very effective method for low-vision rehabilitation in patients presenting with central scotomas. It can give very good results by using simple and inexpensive equipment.

A prospective evaluation of ocular toxicity in patients receiving ethambutol as anti-tubercular therapy

Purpose: The purpose of this study was to detect the early ocular toxicity of ethambutol in tuberculosis patients. Materials and Methods: This was a prospective, nonrandomized noncomparative cross-sectional cohort study of consecutive 93 patients (186 eyes) getting anti-tubercular therapy, including ethambutol (15–20 mg/kg/day) along with isoniazid, rifampicin, and pyrazinamide. The duration of the study was 1 year from June 1, 2018 to May 31, 2019. Best-corrected visual acuity (BCVA), color vision, visual field, contrast sensitivity, pattern-reversal visual evoked responses (VER), and retinal nerve fiber layer (RNFL) thickness measurements were done in both eyes of each patient at baseline and thereafter at 1st, 2nd, and 6th months of therapy. Results: Mean age of the patients was 29.38 ± 8.43 years (range 11–58 years). Among them, 53 were male and 40 were female. All the visual parameters were normal at baseline and 1st month of therapy. Mean BCVA was significantly decreased at the 2nd month but improved at the 6th month. In the 2nd month of treatment, abnormal color vision was detected in 8 patients (16 eyes; 8.6%). Three patients developed bilateral central scotoma, which persisted in two patients even after 6 months of follow-up. The mean latency in VER was significantly increased from baseline at 2nd and 6th months of therapy. The mean contrast sensitivity in both eyes was significantly decreased from baseline at the 2nd month of therapy but improved at 6th month. Mean temporal RNFL thickness was significantly reduced from baseline assessment after 2 and 6 months of treatment. Conclusion: The assessment of BCVA, Colour vision, Visual field, Contrast sensitivity, VER, and RNFL thickness measurements are essential at baseline and thereafter at monthly intervals to detect early ocular ethambutol toxicity.

Sudden bilateral vision loss due to third ventricular cavernous angioma with intratumoral hemorrhage - case report

BackgroundWe report a rare case of sudden bilateral vision loss due to third ventricular cavernous angioma with intratumoral hemorrhage.Case presentationA 45-year-old woman presented decreased visual acuity in both eyes. Her best corrected visual acuity was 0.1 in the right eye and 0.15 in the left eye. Goldmann perimetry showed bilateral central scotomas and bitemporal visual field defects. MRI demonstrated a lesion with mixed hypo- and hyperintensity at the optic chiasm, which was thought to be an intratumoral hemorrhage. The patient underwent bifrontal craniotomy. The tumor was exposed via an anterior interhemispheric approach, and histological evaluation of the mass led to a diagnosis of cavernous angioma. Six months after the surgery, her best corrected visual acuity was 0.9 in the right eye and 0.9 in the left, with slight bitemporal visual field defects.ConclusionThird ventricular cavernous angioma is considered in the differential diagnosis of chiasmal syndrome. Contrast-enhanced MRI and FDG-PET might be useful for differential diagnosis of cavernous angioma from other chiasmal tumors including glioblastoma.

Preliminary Evaluation of Two Digital Image Processing Strategies for Head-Mounted Magnification for Low Vision Patients.

PurposeIn an observational clinical outcome study, we tested the effectiveness and use of the combination of two innovative approaches to magnification: a virtual bioptic telescope and a virtual projection screen, implemented with digital image processing in a head-mounted display (HMD) equipped with a high-resolution video camera and head trackers.MethodsWe recruited 30 participants with best-corrected visual acuity <20/100 in the better-seeing eye and bilateral central scotomas. Participants were trained on the HMD system, then completed a 7- to 10-day in-home trial. The Activity Inventory was administered before and after the home trial to measure the effect of system use on self-reported visual function. A simulator sickness questionnaire (SSQ) and a system-use survey were administered. Rasch analysis was used to assess outcomes.ResultsSignificant improvements were seen in functional ability measures estimated from goal difficulty ratings (Cohen's d = 0.79, P < 0.001), and reading (d = 1.28, P < 0.001) and visual information (d = 1.11, P < 0.001) tasks. There was no improvement in patient-reported visual motor function or mobility. One participant had moderately severe discomfort symptoms after SSQ item calibration. The average patient rating of the system's use was 7.14/10.ConclusionsUse of the system resulted in functional vision improvements in reading and visual information processing. Lack of improvement in mobility and visual motor function is most likely due to limited field of view, poor depth perception, and lack of binocular disparity.Translational RelevanceWe determine if these new image processing approaches to magnification are beneficial to low vision patients performing everyday activities.

Changes in the Properties of the Preferred Retinal Locus with Eccentric Viewing Training.

This study explores whether eccentric viewing training (EVT) changes the properties of the retinal area used for fixation in subjects with bilateral macular disease. The data presented demonstrate the feasibility of conducting a randomized controlled trial on EVT. Patients with bilateral central scotomas adopt other retinal area(s) called preferred retinal locus to substitute the blind fovea. EVT is offered with the goal to improve functional vision by learning how to identify and use a more useful retinal area for fixation-a trained retinal locus-and/or to improve fixation stability with their existing preferred retinal locus. An observational study was conducted to determine whether patients change and adopt a new trained retinal locus location and/or if fixation stability improves after EVT. Seventy-six patients with bilateral central scotomas received EVT from an experienced rehabilitation therapist. Retinal locations for repeated fixations and sizes of central scotomas of the better eye were recorded before and after EVT with a scanning laser ophthalmoscope. The position and area of the 95% confidence bivariate ellipse that defines the retinal area in which 95% of fixations occur were analyzed. We observed no significant difference between the size of the area of the fitted ellipses before (mean [SD], 26.4° [19.7°]) and after (mean [SD], 24.8° [20.9°]) EVT (P = .54). However, we observed a shift in the preferred retinal locus location after EVT (P < .0001). The mean (SD) shift in the position of the center of fixation after EVT was 7.5° (5.2°; range, 0.45 to 23°). This mean difference was larger than would be expected from average within-subject fixation stability. The location of the retinal area used for fixation changes after EVT. Fixation stability does not change after EVT. These preliminary data are yet to be confirmed with the use of a control group.

Juvenile open-angle Glaucoma associated with Leber\u2019s hereditary optic neuropathy: a case report and literature review

BackgroundLeber’s hereditary optic neuropathy (LHON) is a maternally inherited recessive disease rarely complicated with glaucoma. We conducted a clinical and genetic retrospective case series to describe three cases of juvenile open-angle glaucoma (JOAG) and an ND4 m11778G > A mitochondrial DNA (mtDNA) mutation, which is pathognomonic for LHON.Case presentationPatient 1 was a 16-year-old boy diagnosed with bilateral JOAG and high myopia. His intraocular pressure (IOP) was poorly controlled with the use of full topical anti-glaucoma medications. His best-corrected visual acuity (BCVA) decreased gradually over 5 years. Fundoscopic examination revealed bilateral enlarged disc cupping of the optic nerves with sectorial excavation and reduction of the neural rim in the left eye. His visual field (VF) was characterized by bilateral progressive central scotoma. Pattern visual evoked potentials (VEPs) and pattern electroretinograms (ERGs) showed extinguished responses in both eyes. Because of the non-specific visual field findings and the optic neuropathy disclosed by the pattern VEPs and pattern ERGs, we arranged a genetic test for the patient, which revealed an m11778G > A mtDNA mutation. Patient 2, the younger brother of Patient 1, was a 15-year-old boy who had been diagnosed with bilateral JOAG in 2010. The BCVA of both eyes remained at 1.0 during the follow-up period. Fundoscopic examination revealed bilateral mildly paled optic disc with enlarged cupping and reduction of the neural rim. The pattern ERG revealed a decreased N95 amplitude bilaterally. The genetic test revealed an m11778G > A mtDNA mutation. Patient 3 was a 35-year-old man with bilateral JOAG. His BCVA decreased gradually over 10 years. Fundoscopic examination revealed paled optic disc with enlarged disc cupping and reduction of the neural rim in both eyes. The pattern ERG revealed a decreased N95 amplitude bilaterally. The genetic test revealed an m11778G > A mtDNA mutation.ConclusionsThis case series describes three patients with concomitant occurrence of JOAG and LHON. These two diseases may have a cumulative effect on oxidative stress and retinal ganglion cell death with the rapid deterioration of vision, which may occur during adolescence.