CAPOS syndrome is an autosomal dominant neurological disorder caused by mutations in the ATP1A3 gene. Initial symptoms, often fever-induced, include recurrent acute ataxic encephalopathy in childhood, featuring cerebellar ataxia, optic atrophy, areflflexia, sensorineural hearing loss, and in some cases, pes cavus. This report details a case of CAPOS syndrome resulting from a maternal ATP1A3 gene mutation. Both the child and her mother exhibited symptoms post-febrile induction,including severe sensorineural hearing loss in both ears, ataxia, areflexia, and decreased vision. Additionally, the patient's mother presented with pes cavus. Genetic testing revealed a c. 2452G>A（Glu818Lys） heterozygous mutation in theATP1A3 gene in the patient . This article aims to enhance clinicians' understanding of CAPOS syndrome, emphasizing the case's clinical characteristics, diagnostic process, treatment, and its correlation with genotypeic findings.
Humans ; Child ; Female ; Cerebellar Ataxia/diagnosis* ; Talipes Cavus ; Hearing Loss, Sensorineural/diagnosis* ; Optic Atrophy/diagnosis* ; Mutation ; Phenotype ; Sodium-Potassium-Exchanging ATPase/genetics* ; Foot Deformities, Congenital ; Reflex, Abnormal

PURPOSE: We report a case of bilateral nonarteritic anterior ischemic optic neuropathy (NAION) following acute angle-closure crisis (AACC). CASE SUMMARY: A 76-year-old female visited our clinic because of a 1-day history of ocular pain and vision loss in both eyes. The visual acuity was 0.02 in both eyes and her intraocular pressure (IOP) was 52 mmHg in the right eye (RE) and 50 mmHg in the left eye (LE). She had corneal edema and a shallow anterior chamber in both eyes, with 4 mm fixed dilated pupils. After decreasing the IOP with intravenous mannitol, laser iridotomy was performed. However, 2 days later, visual acuity was further reduced to finger counting at 10 cm RE and at 50 cm LE, and her optic disc was swollen. Bilateral NAION following AACC was diagnosed. One month later, visual acuity slightly improved to 0.02 RE and 0.04 LE, and the optic disc edema resolved. A small cup-disc ratio, optic disc pallor, and atrophy were observed. Humphrey visual fields demonstrated superior and inferior altitudial visual field defects in the LE, and almost total scotoma in the RE. CONCLUSIONS: AACC can be a predisposing factor for NAION, so the relative afferent pupillary defect, papilledema, and presentation of other risk factors are important clues to a diagnosis of NAION.
Aged ; Anterior Chamber ; Atrophy ; Causality ; Corneal Edema ; Diagnosis ; Edema ; Female ; Fingers ; Glaucoma, Angle-Closure ; Humans ; Intraocular Pressure ; Mannitol ; Optic Neuropathy, Ischemic ; Pallor ; Papilledema ; Pupil ; Pupil Disorders ; Risk Factors ; Scotoma ; Visual Acuity ; Visual Fields

PURPOSE: To investigate the neuro-ophthalmic diagnosis and clinical manifestations of intracranial aneurysm. METHODS: A retrospective survey of 33 patients who were diagnosed with intracranial aneurysm and underwent neuro-ophthalmic examination from April 2008 to December 2016. Frequency of the first diagnosis of intracranial aneurysm in ophthalmology, neuro-ophthalmic diagnosis, location of intracranial aneurysm, examination of intracranial aneurysm rupture, and neurologic prognosis of Terson's syndrome patients were analyzed by image examination, neurosurgery, and ophthalmology chart review. RESULTS: Of the 33 patients, most patients (n = 31, 94%) were diagnosed with intracranial aneurysm at the neurosurgical department and only 2 patients were diagnosed initially at the ophthalmology department. Causes and association were: Terson's syndrome (n = 10, 30%), third cranial nerve palsy (n = 10, 30%), internclear ophthalmoplegia (n = 4, 12%), visual field defect (n = 3, 9%), optic atrophy (n = 3, 9%), sixth cranial nerve palsy (n = 2, 6%), and nystagmus (n = 1, 3%). The location of intracranial aneurysms were: anterior communicating artery (n = 13, 39%), medial communicating artery (n = 12, 36%), and posterior communicating artery (n = 5, 15%). Ten of 33 patients had Terson's syndrome, and 6 patients (60%) with Terson's syndrome had apermanent neurological disorder such as agnosia, gait disorder and conduct disorder. CONCLUSIONS: Third cranial nerve palsy was the most common neuro-ophthalmic disease in patients presenting with intracranial aneurysm. The neuro-ophthalmic prognoses for those diseases were relatively good, but, if Terson's syndrome was present, neurological disorders (agnosia, gait disorder, conduct disorder) were more likely to remain after treatment.
Abducens Nerve Diseases ; Agnosia ; Arteries ; Conduct Disorder ; Diagnosis ; Gait ; Humans ; Intracranial Aneurysm* ; Nervous System Diseases ; Neurosurgery ; Oculomotor Nerve ; Ophthalmology ; Ophthalmoplegia ; Optic Atrophy ; Paralysis ; Prognosis ; Retrospective Studies ; Rupture ; Visual Fields

PURPOSE: To report ocular findings of a mucolipidosis type II patient with novel mutation. CASE SUMMARY: A 10-year-old boy visited our pediatric genetic metabolic clinic for evaluation of his overall developmental delay and short stature. The boy was diagnosed with mucolipidosis type II (I-cell disease) using plasma enzyme assay and DNA sequencing of the GNPTAB gene mutation. An ophthalmologic investigation was then performed, and a depressed nasal bridge, broad nose, and swelling in the upper lid of both eyes were noted. The best corrected visual acuity was 0.32 and 0.1 and the intraocular pressure was 35 mmHg and 24 mmHg in the right and left eyes, respectively. The anterior chamber angles of both eyes were normal and mild cornea opacity in both eyes was observed. Fundus examination revealed retinal atrophy with folds in both eyes, as well as optic disc edema and optic atrophy in the right and left eyes, respectively. Atherosclerotic changes in the retinal vessels and cystoid macular edema in the left eye were observed, and ocular ultrasound revealed increased posterior sclera thickness in both eyes. CONCLUSIONS: Ocular manifestations of mucolipidosis type II are not currently well-known, and differentiation from other metabolic disorders may be difficult. An ophthalmic work-up can assist in diagnosis, and regular ophthalmic examinations should be used to maintain visual function in mucolipidosis patients.
Anterior Chamber ; Atrophy ; Child ; Cornea ; Diagnosis ; Edema ; Enzyme Assays ; Humans ; Intraocular Pressure ; Lysosomal Storage Diseases ; Macular Edema ; Male ; Mucolipidoses* ; Nose ; Optic Atrophy ; Plasma ; Retinal Vessels ; Retinaldehyde ; Sclera ; Sequence Analysis, DNA ; Ultrasonography ; Visual Acuity

PURPOSE: Leber hereditary optic neuropathy (LHON) is one of the most common hereditary optic neuropathies caused by mutations of mitochondrial DNA. Three common mitochondrial mutations causing LHON are m.3460, m.11778, and m.14484. We report a rare mutation of the mitochondrial tRNA (Leu [UUR]) gene (MT-TL1) (m.3268 A > G) in a patient with bilateral optic atrophy. CASE SUMMARY: A 59-year-old female diagnosed with glaucoma 3 years earlier at a community eye clinic presented to our neuro-ophthalmology clinic. On examination, her best corrected visual acuity was 0.4 in the right eye and 0.7 in the left eye, and optic atrophy was noticed in both eyes. Optical coherence tomography revealed retinal nerve fiber layer (RNFL) thinning in both eyes; average RNFL thickness was 52 µm in the right eye and 44 µm in the left eye, but the papillomacular bundle was relatively preserved in both eyes. Goldmann perimetry demonstrated peripheral visual field defects, mostly involving superotemporal visual field in both eyes. Mitochondrial DNA mutation test showed an unusual mutation in MT-TL1 gene seemingly related to this optic neuropathy. CONCLUSIONS: We found a rare mutation (m.3268 A > G) of the mitochondrial DNA in a patient having bilateral optic atrophy, which led to the diagnosis of LHON. There have been previous reports about mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) and infantile myopathy caused by MT-TL1 mutation, but this is the first case of LHON associated with the same mutation. In this case of LHON associated with MT-TL1 mutation, atypical clinical features were observed with a relatively mild phenotype and peripheral visual field defects.
Diagnosis ; DNA, Mitochondrial ; Female ; Glaucoma* ; Humans ; MELAS Syndrome ; Middle Aged ; Muscular Diseases ; Nerve Fibers ; Optic Atrophy ; Optic Atrophy, Hereditary, Leber* ; Optic Nerve Diseases ; Phenotype ; Retinaldehyde ; RNA, Transfer ; Tomography, Optical Coherence ; Visual Acuity ; Visual Field Tests ; Visual Fields

Choroid plexus papillomas (CPPs) are relatively rare neuroectodermal tumors that develop from choroid plexus epithelial cells and are usually restricted to the ventricles. Extraventricular CPPs are very unusual and can be difficult to diagnose and treat. A 50-year-old male patient was admitted to our clinic complaining of headache and visual deterioration. Neurological examination found no abnormalities except decreased light perception and secondary optic atrophy in the left eye. Endocrine testing revealed normal levels of hormones produced by the pituitary and target glands. Magnetic resonance imaging of the brain revealed a huge regular-shaped lesion in the sellar-suprasellar region occupying the sella turcica and extending into the suprasellar cistern and planum sphenoidale. The lesion was completely excised by microsurgery via an ordinary left-sided pterional approach. Histopathology identified the lesion as a choroid plexus papilloma. Following the case report, literature on the origin, differential diagnosis, and treatment of this rare tumor is reviewed.
Brain ; Choroid Plexus* ; Choroid* ; Diagnosis, Differential ; Epithelial Cells ; Headache ; Humans ; Magnetic Resonance Imaging ; Male ; Microsurgery ; Middle Aged ; Neuroectodermal Tumors ; Neurologic Examination ; Optic Atrophy ; Papilloma, Choroid Plexus* ; Pathology ; Sella Turcica ; Temazepam

OBJECTIVETo explore the application value of next generation sequencing (NGS) in the diagnosis of mitochondrial disorders.

METHODAccording to mitochondrial disease criteria, genomic DNA was extracted using standard procedure from peripheral venous blood of patients with suspected mitochondrial disease collected from neurological department of Beijing Children's Hospital Affiliated to Capital Medical University between October 2012 and February 2014. Targeted NGS to capture and sequence the entire mtDNA and exons of the 1 000 nuclear genes related to mitochondrial structure and function. Clinical data were collected from patients diagnosed at a molecular level, then clinical features and the relationship between genotype and phenotype were analyzed.

RESULTMutation was detected in 21 of 70 patients with suspected mitochondrial disease, in whom 10 harbored mtDNA mutation, while 11 nuclear DNA (nDNA) mutation. In 21 patients, 1 was diagnosed congenital myasthenic syndrome with episodic apnea due to CHAT gene p.I187T homozygous mutation, and 20 were diagnosed mitochondrial disease, in which 10 were Leigh syndrome, 4 were mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes syndrome, 3 were Leber hereditary optic neuropathy (LHON) and LHON plus, 2 were mitochondrial DNA depletion syndrome and 1 was unknown. All the mtDNA mutations were point mutations, which contained A3243G, G3460A, G11778A, T14484C, T14502C and T14487C. Ten mitochondrial disease patients harbored homozygous or compound heterozygous mutations in 5 genes previously shown to cause disease: SURF1, PDHA1, NDUFV1, SUCLA2 and SUCLG1, which had 14 mutations, and 7 of the 14 mutations have not been reported.

CONCLUSIONNGS has a certain application value in the diagnosis of mitochondrial diseases, especially in Leigh syndrome atypical mitochondrial syndrome and rare mitochondrial disorders.

Child ; DNA, Mitochondrial ; genetics ; High-Throughput Nucleotide Sequencing ; Homozygote ; Humans ; Leigh Disease ; Mitochondrial Diseases ; diagnosis ; Mitochondrial Encephalomyopathies ; Mutation ; Optic Atrophy, Hereditary, Leber ; Phenotype ; Point Mutation ; Sequence Analysis, DNA

PURPOSE: To evaluate optic disc pallor using ImageJ in traumatic optic neuropathy (TON). METHODS: This study examined unilateral TON patients. The optic disc was divided into 4 quadrants (temporal, superior, nasal, and inferior), consistent with the quadrants on optical coherence tomography (OCT) retinal nerve fiber layer (RNFL) thickness maps. Optic disc photography was performed and disc pallor was quantified using gray scale photographic images imported into ImageJ software. The correlation between optic disc pallor and RNFL thickness was examined in each quadrant. RESULTS: A total of 35 patients (31 male, 4 female) were enrolled in the study. The mean participant age was 34.8 +/- 15.0 years (range, 5 to 63 years). Overall RNFL thickness decreased in 6 patients, with thinning most often occurring in the inferior quadrant (28 of 35 eyes). There was a significant correlation between optic disc pallor and RNFL thickness (superior, rho = -0.358, p = 0.04; inferior, rho = -0.345, p = 0.04; nasal, rho = -0.417, p = 0.01; temporal, rho = -0.390, p = 0.02). The highest level of correspondence between disc pallor and RNFL thickness values outside of the normative 95th percentiles was 39.3% and occurred in the inferior quadrant. CONCLUSIONS: Optic disc pallor in TON was quantified with ImageJ and was significantly correlated with RNFL thickness abnormalities. Thus, ImageJ evaluations of disc pallor may be useful for evaluating RNFL thinning, as verified by OCT RNFL analyses.
Adolescent ; Adult ; Child ; Child, Preschool ; Colorimetry/methods/standards ; Diagnosis, Computer-Assisted/*methods/standards ; Female ; Humans ; Male ; Middle Aged ; Optic Atrophy/etiology/*pathology ; Optic Nerve Diseases/etiology/*pathology ; Optic Nerve Injuries/*pathology ; Photography/*methods/standards ; Reproducibility of Results ; Software ; Tomography, Optical Coherence/*methods/standards ; Trauma Severity Indices ; Young Adult

PURPOSE: Pantothenate kinase-associated neurodegeneration (PKAN), also known as neurodegeneration with brain iron accumulation is an extremely rare degenerative disease. The present study reports a case of retinal pigmentary changes in PKAN. CASE SUMMARY: A 6-year-old girl presented with night blindness and developmental delay. Neurologic examination revealed toe gait and dystonia. Ocular examination showed retinal pigmentary change in the entire retina without optic atrophy. Brain magnetic resonance imaging showed iron deposits in the basal ganglia, the so-called "eye of the tiger" sign. Genetic tests confirmed a mutation in the gene encoding pantothenate kinase 2. Electroretinography demonstrated severe loss of rod and cone responses, prominently reduced in the rod response. The patient was diagnosed with PKAN and pharmacologic treatment started. CONCLUSIONS: In the case of systemic neurological abnormalities with pigmentary retinal change, PKAN should be considered as a differential diagnosis.
Basal Ganglia ; Brain ; Diagnosis, Differential ; Dystonia ; Electroretinography ; Gait ; Humans ; Iron ; Magnetic Resonance Imaging ; Neurologic Examination ; Night Blindness ; Optic Atrophy ; Pantothenate Kinase-Associated Neurodegeneration ; Phosphotransferases ; Phosphotransferases (Alcohol Group Acceptor) ; Retina ; Retinal Degeneration ; Retinaldehyde ; Toes

INTRODUCTIONThis study describes the pathologic changes in the retina of a group of young Asian subjects with myopia worse than -10 diopters spherical equivalent (SE) refraction.

MATERIALS AND METHODSThe study population consists of 20 male subjects undergoing preemployment screening for public service for a 1-year period from 2009 to 2010. A detailed series of visual tests of function, fundus examination and grading, ocular biometry and posterior segment optical coherence tomography were performed for all eyes.

RESULTSA total of 21 eyes with mean SE of -10.88 diopters, [standard deviation (SD) , 1.28 diopters], and mean age of 21.8 years (SD, 1.3 years) were included. Out of 21 eyes, 17 (81.0%) had beta peripapillary atrophy, 10 (47.6%) had clinically detectable optic disc tilt, 1 (4.8%) had positive T-sign and 18 (85.7%) had retinal tessellation, 4 (19.0%) had posterior vitreous detachment and 14 (66.7%) had peripheral retina degeneration. The mean retinal nerve fibre layer (RNFL) thickness was 92.48 mm (SD, 9.99 mm).

CONCLUSIONNone of the 21 highly myopic eyes had features of myopic retinopathy but most of these young males had clinically visible myopia-associated abnormalities of the optic disc, vitreous and peripheral retina. Generally, these eyes had thinner RNFL. Further longitudinal studies are required to investigate if these eyes will eventually develop complications of pathological myopia.

Adolescent ; Adult ; Age of Onset ; Choroid Diseases ; diagnosis ; Fluorescein Angiography ; Humans ; Male ; Myopia ; classification ; pathology ; Nerve Fibers ; pathology ; Ophthalmoscopy ; Optic Atrophy ; diagnosis ; Optic Disk ; pathology ; Optic Nerve Diseases ; diagnosis ; Posterior Eye Segment ; pathology ; Retina ; pathology ; Retinal Degeneration ; diagnosis ; Retinal Diseases ; diagnosis ; Retinal Vessels ; pathology ; Singapore ; Tomography, Optical Coherence ; methods ; Vision Tests ; Visual Acuity ; Vitreous Detachment ; diagnosis ; Young Adult