[Pathogenetic basis of optic nerve atrophy in methanol poisoning]. / Patogeneticheskie osnovy razvitiya atrofii zritel'nogo nerva pri toksicheskom porazhenii metanolom.

Optic nerve atrophy is a pathomorphological consequence of diseases of the peripheral neuron of the visual pathway, manifested as atrophy of nerve fibers of varying severity. The toxic effect of methanol is mainly associated with formic acid and formaldehyde, which suppress the cytochrome system, inhibit oxidative phosphorylation, and thereby cause a deficiency of adenosine triphosphoric acid, to which brain and retinal tissues are especially susceptible. When formiate accumulates, tissue respiration is disrupted, leading to pronounced tissue hypoxia. As a result of such methanol metabolism, metabolic acidosis occurs. Tissue hypoxia develops in the first few hours as a result of the action of formic acid on the respiratory enzyme chain at the cytochrome oxidase level. Hypoxia and, as a consequence, a decrease in energy supply lead to a disruption of biological oxidation and the development of apoptosis in the optic nerve fibers. Understanding the process of optic nerve atrophy development at the pathogenetic level in methyl alcohol intoxication will help make a correct early diagnosis and prescribe timely treatment.

Case Report: Optic Nerve Atrophy Secondary to Sjögren Syndrome.

SIGNIFICANCE: Optic neuropathy associated with Sjögren syndrome is rare and usually has an acute onset. PURPOSE: This study aimed to report a case of asymmetric optic nerve atrophy attributed to Sjögren syndrome. CASE REPORT: A 37-year-old woman was referred to neuro-ophthalmology service because of right optic nerve atrophy of unknown etiology. The patient was asymptomatic. Best-corrected visual acuity was 20/200 Snellen equivalent in the right eye and 20/20 Snellen equivalent in the left eye. The right eye had a relative afferent pupillary defect. Visual field demonstrated dense temporal loss, superior arcuate involvement, and an inferior paracentral defect in the right eye. Slit-lamp examination showed mild fluorescein staining of the cornea, moderate lissamine green staining of the conjunctiva, and abnormal tear breakup time in both eyes. Fundus examination revealed diffuse pallor of the right optic disc and a normal left optic disc. Optical coherence tomography showed inferior and superior retinal nerve fiber layer atrophy in the right eye and inferior retinal nerve fiber layer atrophy in the left eye. A diagnosis of right optic nerve atrophy was made. Immunologic studies were significant for positive anti-Ro and anti-La antibodies. MRI of the brain and orbit ruled out any intracranial or white-matter pathology. A diagnosis of optic nerve atrophy secondary to Sjögren syndrome was suspected, so corticosteroid treatment was started. CONCLUSIONS: Optic nerve atrophy may be the initial manifestation of Sjögren syndrome. Therefore, optic neuropathy associated with Sjögren syndrome remains a diagnostic challenge. In these cases, specific antibodies such as anti-Ro and anti-La facilitate early diagnosis and can prevent vision-threatening complications.

Demographics and etiologic characteristics of non-glaucomatous optic atrophy: a single-center cross-sectional study from Turkey.

BACKGROUND: Optic atrophy is an end-stage pathology of optic nerve diseases that is characterized by optic nerve pallor and vision loss. Because of its sight-threatening effects, understanding its epidemiology and etiology is crucial. In this study, we aimed to determine the epidemiologic features of optic nerve pathologies which lead to optic atrophy. METHODS: This is a cross-sectional study in which, medical records of optic atrophy patients who were followed up in our clinic between 1999 and 2020 were evaluated. Three hundred and sixty eyes of 226 patients were included in the study. Demographic data were received from the patients' files. Patients with glaucomatous optic atrophy, consecutive optic atrophy and patients with less than a year follow-up were excluded from the study. RESULTS: The most frequent reason of optic atrophy was central nervous system diseases (27.43%) followed by secondary non-arteritic ischemic optic neuropathy (26.99%). The most frequent etiology of optic atrophy was non-arteritic ischemic optic neuropathy in males and central nerve system-related pathologies in females. The highest presentation age (mean 63.6 ± 17.85 years) was observed in arteritic ischemic optic neuropathy and central nerve system-related optic atrophy had the lowest presentation age (median 14 years, IQR [34]). CONCLUSION: Central nerve system diseases and non-arteritic ischemic optic neuropathies were the most common causes of non-glaucomatous and non-consecutive optic atrophy in Turkey. Better understanding of underlying etiologies of optic atrophy may lead us to take precautions timely for irreversible optic nerve dysfunction which is an important reason of blindness.

Magnetic Resonance Angiogram Findings of Internal Carotid Artery Narrowing and Anterior Cerebral Artery Hypoplasia Associated With Optic Atrophy After Neonatal Extracorporeal Membrane Oxygenation.

ABSTRACT: We use MRA to elucidate a potential association of unilateral optic atrophy in infancy, ipsilateral internal carotid artery narrowing after extracorporeal membrane oxygenation, and ipsilateral hypoplasia of the A1 segment of the anterior cerebral artery.

[Modern treatment of different forms of optic nerve atrophy]. / Sovremennye sposoby terapii razlichnykh form atrofii zritel'nogo nerva.

Optic nerve atrophy (ONA) is one of the most common causes of blindness and low vision in the world. The disease occurs in 60-68% of cases. The causes of optic nerve atrophy are diverse: inflammatory and vascular diseases of the optic nerve and retina, glaucoma, atherosclerosis of the main vessels of head and neck, diseases of central nervous system, intoxication of various etiologies, as well as congenital and hereditary diseases. The literature review presents data on the diagnosis and classification of optic nerve atrophy, as well as on drug and non-drug treatment in combination with physiotherapy.

Ten Years and Beyond Longitudinal Change of ß-Zone Parapapillary Atrophy: Comparison of Primary Open-Angle Glaucoma with Normal Eyes.

PURPOSE: To investigate the difference in longitudinal change of ß-zone parapapillary atrophy (PPA) between eyes with primary open-angle glaucoma (POAG) and normal eyes. DESIGN: Longitudinal, observation study. PARTICIPANTS: A total of 153 eyes with POAG and 105 normal eyes. METHODS: Participants were followed for 10 years or more, with disc photography performed every year. The topographic parameters of ß-zone PPA (area, maximal radial extent, angular extent around disc) were measured. The factors associated with the enlargement of ß-zone PPA parameters were assessed by odds ratio (OR) using multivariable logistic regression. MAIN OUTCOME MEASURES: Enlargement of ß-zone PPA parameters and associated factors. RESULTS: Over the course of the average 11.6±1.3-year follow-up period, enlargement of ß-zone PPA was detected in 66.7% of POAG eyes and in 26.7% of normal eyes. Increment of all PPA parameters was significantly more common in cases of POAG than in normal eyes (all P < 0.001). The spatial distribution of maximal radial extent at baseline and final examination was significantly different between the 2 groups: POAG eyes; inferotemporal versus normal eyes; temporal (chi-square = 26.549, P < 0.001, chi-square = 19.320, P = 0.004, respectively). The widening of radial extent was significantly associated with older age (OR, 1.036; P = 0.010) and the presence of glaucoma (OR, 2.599; P = 0.002). The increment of angular extent was associated with the presence of glaucoma (OR, 12.167; P = 0.017) and optic disc hemorrhage (OR, 3.266; P = 0.019). CONCLUSIONS: The pattern of ß-zone PPA change differed between POAG and normal eyes during a follow-up of 10 years or more. The enlargement of PPA occurred more frequently in POAG than in normal eyes. The widening of radial extent was associated with older age and glaucoma, whereas the increment of angular extent was associated with glaucomatous damage.

Association of macular thickness with parapapillary atrophy in myopic eyes.

BACKGROUND: To investigate whether macular structure could be affected by axial elongation and to determine the association between macular intraretinal thickness and the microstructure of ß-zone parapapillary atrophy (PPA) in myopic eyes. METHODS: The study recruited 113 healthy myopic subjects (113 eyes). Images of the macula, subfoveal choroid, and optic nerve head were acquired using spectral-domain optical coherence tomography (SD-OCT). An automatic segmentation algorithm was used to segment the macular images into 7 intraretinal layers. PPA widths with and without Bruch's membrane (PPA+BM and PPA-BM, respectively) were evaluated. Linear regression analysis was performed to evaluate the association between macular intraretinal thickness and axial length and the microstructure of PPA. RESULTS: An increase in axial length was associated with a decrease in whole macular thickness of the peripheral region and an increase in whole macular thickness of the central region. Thickness alterations of the macular intraretinal layers were most apparent in the peripheral region. A significant correlation was found between PPA-BM width and macular intraretinal layer thickness, whereas no significant correlation was found between PPA+BM width and macular intraretinal layer thickness. Moreover, both PPA+BM and PPA-BM widths significantly correlated with subfoveal choroidal thickness. CONCLUSIONS: Macular intraretinal layer thickness may be affected by PPA-BM width. These findings indicate that the microstructure of PPA should be considered when evaluating the macula in patient with myopia and glaucoma.

Acteoside inhibits autophagic apoptosis of retinal ganglion cells to rescue glaucoma-induced optic atrophy.

BACKGROUND: Glaucoma is the world's second biggest cause of blindness, and patients progressively lose their eyesight. The current clinical treatment for glaucoma involves controlling intraocular pressure with drugs or surgery; however, some patients still progressively lose their eyesight. This treatment is also similar to the treatment of traumatic optic neuropathy. Thus, saving retinal ganglion cells (RGCs) from apoptosis is essential. METHODS: The role of Acteoside on autophagy modulation in the 661 W cell line. RESULTS: In this study, we first find that Acteoside inhibits autophagy, Rapamycin alleviates this inhibition and the PI3K inhibitor, 3-MA or LY294002, synergistically promotes it. In a mechanistic study, we find that Optineurin (OPTN) mediates Acteoside regulation of autophagy. OPTN overexpression or knockdown activates or inhibits autophagy, respectively. OPTN is inhibited by autophagy inhibitors, such as Acteoside and 3-MA and is promoted by the autophagy activator, Rapamycin. Meanwhile, PI3K and AKT are elevated by Acteoside and 3-MA and inhibited by Rapamycin. Finally, we find that Acteoside inhibits apoptosis in parallel to autophagy and that this inhibition is also mediated by OPTN. CONCLUSION: In summary, we conclude that Acteoside inhibits autophagy-induced apoptosis in RGCs through the OPTN and PI3K/AKT/mTOR pathway, and glaucoma patients may benefit from Acteoside treatment alone or in combination with other autophagy inhibitors.

PEHO syndrome: the endpoint of different genetic epilepsies.

BACKGROUND: Progressive encephalopathy, hypsarrhythmia and optic atrophy (PEHO) has been described as a clinically distinct syndrome. It has been postulated that it is an autosomal recessive condition. However, the aetiology is poorly understood, and the genetic basis of the condition has not been fully elucidated. Our objective was to discover if PEHO syndrome is a single gene disorder. METHOD: Children with PEHO and PEHO-like syndrome were recruited. Clinical, neurological and dysmorphic features were recorded; EEG reports and MRI scans were reviewed. Where possible, exome sequencing was carried out first to seek mutations in known early infantile developmental and epileptic encephalopathy (DEE) genes and then to use an agnostic approach to seek novel candidate genes. We sought intra-interfamilial phenotypic correlations and genotype-phenotype correlations when pathological mutations were identified. RESULTS: Twenty-three children were recruited from a diverse ethnic background, 19 of which were suitable for inclusion. They were similar in many of the core and the supporting features of PEHO, but there was significant variation in MRI and ophthalmological findings, even between siblings with the same mutation. A pathogenic genetic variant was identified in 15 of the 19 children. One further girl's DNA failed analysis, but her two affected sisters shared confirmed variants. Pathogenic variants were identified in seven different genes. CONCLUSIONS: We found significant clinical and genetic heterogeneity. Given the intrafamily variation demonstrated, we question whether the diagnostic criteria for MRI and ophthalmic findings should be altered. We also question whether PEHO and PEHO-like syndrome represent differing points on a clinical spectrum of the DEE. We conclude that PEHO and PEHO-like syndrome are clinically and genetically diverse entities-and are phenotypic endpoints of many severe genetic encephalopathies.

Ophthalmologic Manifestations of Wolfram Syndrome: Report of 14 Cases.

PURPOSE: The aim of this study was to describe ophthalmological abnormalities in 14 cases of Wolfram syndrome belonging to 9 different families. METHODS: Patients were submitted to a complete ophthalmological, neurological, otorhinolaryngological, urological, and genetic evaluation. RESULTS: Our sample comprised 14 Caucasian patients belonging to 9 different families. Their ages ranged from 10 to 38 years. The mean duration of known disease was 11.3 ± 8.7 years. Genetic confirmation was obtained in 7 families. There was a parental consanguinity history in 2 families. Five families were homozygous for a mutation of exon 8 of the WFS1 gene (Chr. 4), and 2 patients were heterozygous. Diabetes mellitus was the first manifestation in all except 1 patient. The mean age at diagnosis was 8.7 years (range 3-22). None had diabetic retinopathy. The mean age at diagnosis of optic atrophy was 11.1 years (range 8-35). The best-corrected visual acuity ranged from counting fingers to 20/50. CONCLUSIONS: Association of optic atrophy with insulin-dependent diabetes mellitus should raise the suspicion of Wolfram syndrome.

TEMPORAL VASCULAR ARCADE WIDTH AND ANGLE IN HIGH AXIAL MYOPIA.

PURPOSE: Axial myopia is associated with elongation of the posterior ocular segment. The authors measured posterior fundus landmarks and assessed their associations with axial length. METHODS: Using fundus photographs, the authors measured the vertical distance between the temporal superior and temporal inferior arterial arcade (VDA) and the angle kappa between the temporal arterial arcades among other morphometric variables. RESULTS: The study included 456 eyes with a mean age of 61.2 ± 14.2 years (range: 13-88 years) and mean axial length of 29.4 ± 2.1 mm (range: 23.2-35.3 mm). Mean angle kappa was 91.3 ± 17.2° (range: 39-161°), and mean VDA was 7.93 ± 1.71 mm (range: 2.72-12.85 mm). In multivariate regression analysis, wider angle kappa was associated (regression coefficient r: 0.47) with shorter axial length (P = 0.002; beta: -0.17; B: -1.37; 95% confidence interval [CI]:-2.23 to -0.51), longer VDA (P < 0.001; beta: 0.27; B: 2.70; 95% CI: 1.85-3.54), shorter disk-foveola distance (P < 0.001; beta: -0.22; B: -4.76; 95% CI: -7.05 to -2.46), shorter vertical optic disk diameter (P = 0.002; beta: -0.14; B: -6.83; 95% CI: -11.1 to -2.56), lower number of any chorioretinal lesions (P = 0.007; beta: -0.13; B: -2.11; 95% CI: -3.63 to -0.58), and longer maximal vertical chorioretinal lesion diameter (P = 0.05; beta: 0.09; B: 0.92; 95% CI: -0.02 to 1.86). A longer VDA was associated (r: 0.31) with longer axial length (P < 0.001; beta: 0.22; B: 0.18; 95% CI: 0.10-0.25), wider angle kappa (P < 0.001; beta: 0.28; B: 0.03; 95% CI: 0.02-0.04) and higher number of chorioretinal lesions (P = 0.03; beta: 0.10; B: 0.16; 95% CI: 0.02-0.31). If eyes with chorioretinal lesions were excluded, the association between longer VDA and longer axial length was no longer statistically significant (P > 0.10). CONCLUSION: Axial elongation was correlated with decreasing angle kappa, caused by an elongation of the disk-foveola distance because of an enlargement of the gamma zone, whereas VDA remained constant. By contrast, horizontal length of macular Bruch membrane and vertical length of macular Bruch membrane were independent of axial elongation. Axial elongation did not lead to lengthening of Bruch membrane in the macular region in eyes without macular chorioretinal lesions.

[Optic Nerve Head Diagnostics with Optical Coherence Tomography]. / Papillendiagnostik mithilfe der optischen Kohärenztomografie.

BACKGROUND: With a cooperative patient, examination of the optic nerve head using optical coherence tomography (OCT) is fast and easy to perform and facilitates identification and monitoring of different pathological changes in the optic nerve head. MATERIALS AND METHODS: Characteristic findings and scanning options are illustrated using case examples to simplify recognition of infrequent diseases of the optic nerve head and to facilitate treatment decisions using OCT results. RESULTS: Pathological changes and characteristic OCT findings are shown for glaucoma, for different anomalies of the optic nerve head, for non-glaucomatous optic atrophies and for optic disc swelling for different reasons. The most suitable OCT parameters and examination modes are listed to differentiate between specific pathological changes. CONCLUSION: Optic nerve head examination using the OCT facilitates rapid diagnosis of infrequent and hard to distinguish pathological changes, as well as exact monitoring of chronic progressive diseases of the optic nerve. Correct application and evaluation of results gathered using OCT examination of the optic nerve head facilitates accurate diagnosis and correct decisions.

Retinal and Optic Nerve Degeneration in Patients with Multiple Sclerosis Followed up for 5 Years.

PURPOSE: To quantify retinal nerve fiber layer (RNFL) changes in patients with multiple sclerosis (MS) and healthy controls with a 5-year follow-up and to analyze correlations between disability progression and RNFL degeneration. DESIGN: Observational and longitudinal study. PARTICIPANTS: One hundred patients with relapsing-remitting MS and 50 healthy controls. METHODS: All participants underwent a complete ophthalmic and electrophysiologic exploration and were re-evaluated annually for 5 years. MAIN OUTCOME MEASURES: Visual acuity (Snellen chart), color vision (Ishihara pseudoisochromatic plates), visual field examination, optical coherence tomography (OCT), scanning laser polarimetry (SLP), and visual evoked potentials. Expanded Disability Status Scale (EDSS) scores, disease duration, treatments, prior optic neuritis episodes, and quality of life (QOL; based on the 54-item Multiple Sclerosis Quality of Life Scale score). RESULTS: Optical coherence tomography (OCT) revealed changes in all RNFL thicknesses in both groups. In the MS group, changes were detected in average thickness and in the mean deviation using the GDx-VCC nerve fiber analyzer (Laser Diagnostic Technologies, San Diego, CA) and in the P100 latency of visual evoked potentials; no changes were detected in visual acuity, color vision, or visual fields. Optical coherence tomography showed greater differences in the inferior and temporal RNFL thicknesses in both groups. In MS patients only, OCT revealed a moderate correlation between the increase in EDSS and temporal and superior RNFL thinning. Temporal RNFL thinning based on OCT results was correlated moderately with decreased QOL. CONCLUSIONS: Multiple sclerosis patients exhibit a progressive axonal loss in the optic nerve fiber layer. Retinal nerve fiber layer thinning based on OCT results is a useful marker for assessing MS progression and correlates with increased disability and reduced QOL.

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.

BACKGROUND: Infantile-onset encephalopathy and hypertrophic cardiomyopathy caused by mitochondrial oxidative phosphorylation defects are genetically heterogeneous with defects involving both the mitochondrial and nuclear genomes. OBJECTIVE: To identify the causative genetic defect in two sisters presenting with lethal infantile encephalopathy, hypertrophic cardiomyopathy and optic atrophy. METHODS: We describe a comprehensive clinical, biochemical and molecular genetic investigation of two affected siblings from a consanguineous family. Molecular genetic analysis was done by a combined approach involving genome-wide autozygosity mapping and next-generation exome sequencing. Biochemical analysis was done by enzymatic analysis and Western blot. Evidence for mitochondrial DNA (mtDNA) instability was investigated using long-range and real-time PCR assays. Mitochondrial cristae morphology was assessed with transmission electron microscopy. RESULTS: Both affected sisters presented with a similar cluster of neurodevelopmental deficits marked by failure to thrive, generalised neuromuscular weakness and optic atrophy. The disease progression was ultimately fatal with severe encephalopathy and hypertrophic cardiomyopathy. Mitochondrial respiratory chain complex activities were globally decreased in skeletal muscle biopsies. They were found to be homozygous for a novel c.1601T>G (p.Leu534Arg) mutation in the OPA1 gene, which resulted in a marked loss of steady-state levels of the native OPA1 protein. We observed severe mtDNA depletion in DNA extracted from the patients' muscle biopsies. Mitochondrial morphology was consistent with abnormal mitochondrial membrane fusion. CONCLUSIONS: We have established, for the first time, a causal link between a pathogenic homozygous OPA1 mutation and human disease. The fatal multisystemic manifestations observed further extend the complex phenotype associated with pathogenic OPA1 mutations, in particular the previously unreported association with hypertrophic cardiomyopathy. Our findings further emphasise the vital role played by OPA1 in mitochondrial biogenesis and mtDNA maintenance.

Neurological Complications Resulting from Non-Oral Occupational Methanol Poisoning.

Methanol poisoning results in neurological complications including visual disturbances, bilateral putaminal hemorrhagic necrosis, parkinsonism, cerebral edema, coma, or seizures. Almost all reported cases of methanol poisoning are caused by oral ingestion of methanol. However, recently there was an outbreak of methanol poisoning via non-oral exposure that resulted in severe neurological complications to a few workers at industrial sites in Korea. We present 3 patients who had severe neurological complications resulting from non-oral occupational methanol poisoning. Even though initial metabolic acidosis and mental changes were improved with hemodialysis, all of the 3 patients presented optic atrophy and ataxia or parkinsonism as neurological complications resulting from methanol poisoning. In order to manage it adequately, as well as to prevent it, physicians should recognize that methanol poisoning by non-oral exposure can cause neurologic complications.

Disambiguating the optic nerve from the surrounding cerebrospinal fluid: Application to MS-related atrophy.

PURPOSE: Our goal is to develop an accurate, automated tool to characterize the optic nerve (ON) and cerebrospinal fluid (CSF) to better understand ON changes in disease. METHODS: Multi-atlas segmentation is used to localize the ON and sheath on T2-weighted MRI (0.6 mm(3) resolution). A sum of Gaussian distributions is fit to coronal slice-wise intensities to extract six descriptive parameters, and a regression forest is used to map the model space to radii. The model is validated for consistency using tenfold cross-validation and for accuracy using a high resolution (0.4 mm(2) reconstructed to 0.15 mm(2)) in vivo sequence. We evaluated this model on 6 controls and 6 patients with multiple sclerosis (MS) and a history of optic neuritis. RESULTS: In simulation, the model was found to have an explanatory R-squared for both ON and sheath radii greater than 0.95. The accuracy of the method was within the measurement error on the highest possible in vivo resolution. Comparing healthy controls and patients with MS, significant structural differences were found near the ON head and the chiasm, and structural trends agreed with the literature. CONCLUSION: This is a first demonstration that the ON can be exclusively, quantitatively measured and separated from the surrounding CSF using MRI.

Quantitative comparison of disc rim color in optic nerve atrophy of compressive optic neuropathy and glaucomatous optic neuropathy.

PURPOSE: The purpose was to investigate an objective and quantitative method to estimate the redness of the optic disc neuroretinal rim, and to determine the usefulness of this method to differentiate compressive optic neuropathy (CON) from glaucomatous optic neuropathy (GON). METHODS: In our study there were 126 eyes: 40 with CON, 40 with normal tension glaucoma (NTG), and 46 normal eyes (NOR). Digital color fundus photographs were assessed for the redness of disc rim color using ImageJ software. We separately measured the intensity of red, green, and blue pixels from RGB images. Three disc color indices (DCIs), which indicate the redness intensity, were calculated through existing formulas. RESULTS: All three DCIs of CON were significantly smaller than those of NOR (P < 0.001). In addition, when compared with NTG, DCIs were also significantly smaller in CON (P < 0.05). A comparison of mild CON and mild NTG (mean deviation (MD) > -6 dB), in which the extent of retinal nerve fiber layer thinning is comparable, the DCIs of mild CON were significantly smaller than those of mild NTG (P < 0.05). In contrast, DCIs did not differ between moderate-to-severe stages of CON and NTG (MD ≤ -6 dB), though the retinal nerve fibers of CON were more severely damaged than those of NTG. To differentiate between mild CON and mild NTG, all AUROCs for the three DCIs were above 0.700. CONCLUSIONS: A quantitative and objective assessment of optic disc color was useful in differentiating early-stage CON from GON and NOR.

Optic Atrophy in a Patient With Atypical Pantothenate Kinase-Associated Neurodegeneration.

Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive neurodegeneration with brain iron accumulation and characterized by extrapyramidal signs, vision loss, and intellectual decline. PKAN is caused by mutations in the PANK2 gene, which codes for a mitochondrial enzyme that phosphorylates vitamin B5 in the first reaction of the coenzyme A biosynthetic pathway. Visual failure in this disorder is typically due to pigmentary retinopathy. Yet our patient, a 13-year-old girl with PKAN, developed bilateral optic atrophy and the appearance of the retina and electroretinography were normal. Optic atrophy is a rare finding in patients with PKAN. It is important for the clinician to consider PKAN in the differential diagnosis of patients presenting with signs of extrapyramidal dysfunction, cognitive decline, and vision loss because of optic atrophy.