Juvenile progressive optic atrophy as the presenting feature of biotinidase deficiency, a treatable metabolic disorder.

A 10-year-old girl initially diagnosed with functional visual loss was later diagnosed with progressive optic atrophy. Directed questioning at 13 years of age revealed difficulty hearing that had not been noted by the parents. Whole exome sequencing and subsequent metabolic testing confirmed biotinidase deficiency. Although biotinidase deficiency classically manifests in early childhood with multiple manifestations, such as seizures and failure to thrive, a delayed-onset form can present primarily as juvenile progressive optic atrophy. Early diagnosis is critical because biotin supplementation prevents disease and deterioration.

Potentially blinding adverse drug reaction to peribulbar lignocaine anesthesia: A rare case report.

Peribulbar lignocaine anesthesia is commonly used in ophthalmic surgeries. It rarely causes any severe allergic reaction. A 63-year-old male presented with complicated pseudophakia. He underwent successful vitrectomy under local anesthesia. He later presented with acute-onset proptosis, orbital swelling, and extraocular movement restriction. He was afebrile with normal blood workup and radiological investigations and gave a similar past history. The patient was treated successfully with intravenous medications but two months later developed optic atrophy. An adverse reaction to lignocaine appears to be the most probable cause. Early detection and prompt management of this condition may avert a potentially grave visual outcome. Literature review shows that this case is one of its kinds to report this potentially blinding complication of peribulbar lignocaine anesthesia.

Nonglaucomatous Cupping: Fundus Photography and Spectral Domain Optical Coherence Tomography Imaging Features.

Nonglaucomatous cupping is commonly encountered in neuro-ophthalmic practice. However, the progression of clinical and imaging findings over time has not been well described. We present serial fundus photographs and spectral domain optical coherence tomography from a pediatric patient with neuromyelitis optic spectrum disorder, which demonstrated progression of both cupping and optic atrophy in the setting of normal intraocular pressure.

Neuropatía óptica en un caso de paquimeningitis hipertrófica idiopática recurrente sin respuesta a esteroides e inmunosupresores / Optic neuropathy in a case of recurrent idiopathic hypertrophic pachymeningitis unresponsive to steroids and immunosuppressants

CASO CLÍNICO: Mujer de 38 años con pérdida visual en ojo izquierdo y papiledema bilateral. La resonancia magnética nuclear (RMN) mostraba engrosamiento de la duramadre y la presión intracraneal estaba elevada. Se descartó enfermedad infecciosa, tumoral y autoinmune. DISCUSIÓN: La respuesta inicial a corticoides fue satisfactoria con desaparición del edema de disco óptico, mejoría de la agudeza visual y mejoría radiológica. Después de un año sin tratamiento presentó un nuevo brote, desarrollando una neuropatía óptica izquierda con pérdida irreversible de visión a pesar del retratamiento con corticoides y azatioprina

CASE REPORT: A 38-year-old female patient with bilateral papilledema who presented with loss of vision in her left eye. The Magnetic Resonance Imagining (MRI) showed thickening of the dura mater, and the intracranial pressure was elevated. A cancer, infectious, and autoimmune origin was ruled out. DISCUSSION: The initial response to high doses of corticoids was satisfactory, with disappearance of the optic disc enema, with visual acuity and an improvement in the MRI. However, after one year without treatment she had a new outbreak of the disease. Despite renewed treatment with corticoids and azathioprine, the patient developed a left optic neuropathy and irreversible visual loss

Long term survival in anti-Hu associated adult neuroblastoma.

We report on a young lady suffering from adult neuroblastoma and anti-Hu associated paraneoplastic encephalomyelitis (PEM) with a tumour free survival of nine years up to now. Treatment included tumour surgery, radiation, high dose chemotherapy, and stem cell transplantation. Serological testing demonstrated a marked decline in anti-Hu antibody titres under therapy, and subsequent disappearance of the antibody 31 months after second tumour resection.

Respuesta a la idebenona asociada a multivitaminoterapia en neuropatía óptica hereditaria de Leber / Response to idebenone and multivitamin therapy in leber´s hereditary optic neuropathy

Objetivo: Determinar la eficacia del tratamiento con idebenona y multivitamínico en la neuropatía óptica hereditaria de Leber (NOHL). Método: Dos pacientes diagnosticados de NOHL, fueron tratados con idebenona, vitamina C y riboflavina durante un año. Ambos fueron evaluados clínicamente antes, durante y después del tratamiento. Resultado: Ninguno de los dos pacientes experimentó mejoría visual y ambos sufrieron afectación en el segundo ojo. Conclusiones: A pesar de casos publicados en la literatura de recuperación visual con idebenona en pacientes con NOHL, nuestra experiencia indica que este tratamiento no es efectivo para la enfermedad de Leber

Objective: To ascertain the efficacy of idebenone and multivitamin treatment in Leber’s hereditary optic neuropathy (LHON). Method: Two patients diagnosed of unilateral LHON were treated with megadoses of idebenone, vitamin C and riboflavin for one year. They were examined clinically before, during and after treatment. Results: No improvement of visual function was observed. Despite the idebenone treatment, in both cases the second eye became involved. Conclusions: Despite previous reports of visual recovery with idebenone in patients with LHON, our experience shows that an effective treatment for Leber’s disease remains to be found

Optic atrophy as a sign of wolfram syndrome.

BACKGROUND: The hallmark of Wolfram syndrome -- an extremely rare autosomal recessive disorder -- is the association of juvenile onset diabetes mellitus with optic atrophy. Additional symptoms such as deafness and diabetes insipidus may develop. HISTORY AND SIGNS: An 18-year-old man suffered progressive visual loss over the last seven years. Severe optic atrophy with extensive cupping and slightly elevated intraocular pressure in both eyes were found. Perimetry revealed peripheral defects with paracentral scotomas. ERG results excluded tapetoretinal degeneration; visual evoked responses were delayed. At the age of nine the patient had been diagnosed with diabetes mellitus type I and neurosensory deafness, seven years later a beginning hypogonadism was found. THERAPY AND OUTCOME: Wolfram syndrome is a progressive degenerative disorder with reduced life expectancy. Treatment is symptomatic. CONCLUSIONS: Wolfram syndrome should be considered in every patient who presents with optic atrophy and juvenile onset diabetes mellitus.

Outcome in patients with profound biotinidase deficiency: relevance of newborn screening.

Profound biotinidase deficiency (PBD) is an autosomal recessively inherited disorder of biotin metabolism, which can be detected by newborn screening and treated with biotin supplementation. Children were investigated in whom PBD was detected by newborn screening and who were treated presymptomatically, or who were not screened but were diagnosed and treated after experiencing initial clinical symptoms (symptomatic children). In a follow-up of our study group, differences in development, social and behavioural adaptation, and signs of residual impairment were examined. Parents and physicians of children with PBD completed questionnaires which included the Child Behavior Checklist and Vineland Adaptive Behavior Scales. Information was obtained for 37 children (24 males, 13 females; median age at recruitment 6 years 8 months, range to 6 months-20 years; median length of follow-up 6 years 6 months, range 5 months to 18 years 3 months). All 11 symptomatic children had residual enzyme activity of <1%, or variants of the Michaelis-Menten constant which were not detected by newborn screening. Some symptomatic children showed residual impairments: hearing impairment (n=2), optic atrophy (n=2), both hearing impairment and optic atrophy (n=2). In addition, symptomatic children had a higher risk of delayed motor and speech development. No child with PBD detected by newborn screening (n=25) had auditory or visual loss; and milestones of speech development and motor skills were reached at an appropriate age. There was no significant difference in social adaptation or behavioural problems between symptomatic and asymptomatic children. Symptomatic children often have developmental delay and are at risk of irreversible damage to auditory, visual, or central nervous functions; whereas children with PBD (established presymptomatically following newborn screening) treated with biotin supplementation, do not experience these effects.

Optic nerve head appearance in juvenile-onset chronic high-pressure glaucoma and normal-pressure glaucoma.

OBJECTIVE: To evaluate the appearance of the optic nerve head in chronic high-pressure glaucoma and normal-pressure glaucoma. DESIGN: Clinic-based cross-sectional study. PARTICIPANTS: The study included 52 eyes with normal-pressure glaucoma and 28 eyes with juvenile-onset primary open-angle glaucoma that served as models for chronic high-pressure glaucoma. METHODS: Color stereo optic disc photographs and wide-angle retinal nerve fiber layer photographs were morphometrically examined. MAIN OUTCOME MEASURES: Localized retinal nerve fiber layer defects; parapapillary chorioretinal atrophy; disc hemorrhages; optic cup shape; retinal arteriole narrowing. RESULTS: Both study groups did not vary significantly in count of localized retinal nerve fiber layer defects, size of parapapillary atrophy, optic cup depth, steepness of disc cupping, rim/disc area ratio, diameter of retinal arterioles, and frequency and degree of focal retinal arteriole narrowing. In normal-pressure glaucoma versus juvenile open-angle glaucoma, localized retinal nerve fiber layer defects were significantly broader, disc hemorrhages were found significantly more often and were larger, and neuroretinal rim notches were present more frequently and were deeper. CONCLUSIONS: Chronic high-pressure glaucoma and normal-pressure glaucoma show morphologic similarities in the appearance of the optic nerve head. The lower frequencies of detected disc hemorrhages and rim notches in high-pressure glaucoma may be due to a smaller size of hemorrhages and localized retinal nerve fiber layer defects in high-pressure glaucoma. Both glaucoma types have morphologic features in common, suggesting that they may possibly belong to a spectrum of the same pathologic process.

[Outer retinitis as an early symptom of subacute sclerosing panencephalitis]. / Aussere Retinitis als Frühsymptom bei subakut sklerosierender Panencephalitis (SSPE).

BACKGROUND: A primary ocular manifestation of subacute sclerosing panencephalitis is known and can progress to severe visual deterioration. The rare occurrence of the disease makes diagnosis often difficult. CASE REPORT: The lethal clinical course of a patient with subacute sclerosing panencephalitis (SSPE) is presented. The disease manifested itself with severe ophthalmic symptoms preceding clinical and neurological signs and leading to bilateral blindness. The dramatic drop of visual acuity was due to a unilateral and later in the course bilateral pigmentepitheliopathy of the posterior pole. Inflammatory signs of retinal vasculature or inner retinal layers were detected neither clinically nor by fluoresceine angiography. A typical blockage of background fluorescence was demonstrated in fluoresceine and indocyanine angiography. Within two weeks after initial symptoms optic atrophy developed in both eyes. CONCLUSION: The primary lesion of retinal pigment epithelium and outer retinal layer were the prominent findings in this case. The presence of an outer retinitis of the posterior pole should alert the physician to the possibility of subacute sclerosing panencephalitis.

[Electric ophthalmologic stimulator Fosfen-1]. / Elektrooftalmostimuliator Fosfen-1.

The paper describes a [sequence: see text] electric eye stimulator which works on the principle of transcutaneous electric stimulation of a peripheral part of the eye analyzer. The device is both diagnostic and therapeutical, exerting a positive therapeutical effect in the treatment of ocular nerve atrophy in patients treated in the ophthalmological, neurological, and neurosurgical units.

[Electrophysiological and neuroradiological methods in the diagnosis and prognostication of functional outcome in young children with lesions of the visual tract]. / Elektrofiziologicheskie i neiroradiologicheskie metody v diagnostike i prognozirovanii funktsional'nykh iskhodov u detei rannego vozrasta s porazheniem zritel'nykh putei.

The authors analyze the data of computer-aided tomography, neurosonography, and visual evoked potentials to chess pattern reversal in 14 infants aged 6 to 11 months with partial atrophy of the optic nerve and/or visual cortex involvement before and in various periods after transcutaneous electric stimulation combined with neurotrophic drug therapy. The advantages of comprehensive examinations in neuroophthalmological diagnosis in infants are shown, as is the possibility of using electrophysiological and neuroradiological methods for prediction of functional outcomes in the said patient population.

[Effectiveness of magnetotherapy in optic nerve atrophy. A preliminary study]. / Effektivnost' magnitoterapii pri atrofii zritel'nogo nerva. Predvaritel'noe issledovanie.

Magnetotherapy effects on visual functions (vision acuity and field), on retinal bioelectric activity, on conductive vision system, and on intraocular circulation were studied in 88 patients (160 eyes) with optic nerve atrophy. A Soviet Polyus-1 low-frequency magnetotherapy apparatus was employed with magnetic induction of about 10 mT, exposure 7-10 min, 10-15 sessions per course. Vision acuity of patients with its low (below 0.04 diopters) values improved in 50 percent of cases. The number of patients with vision acuity of 0.2 diopters has increased from 46 before treatment to 75. Magnetotherapy improved ocular hemodynamics in patients with optic nerve atrophy, it reduced the time of stimulation conduction along the vision routes and stimulated the retinal ganglia cells. The maximal effect was achieved after 10 magnetotherapy sessions. A repeated course carried out in 6-8 months promoted a stabilization of the process.

Leber's optic atrophy with myopia masquerading as glaucoma: case report.

In recent years there has been much discussion in the literature regarding the proper approach to the patient who presents with apparent "low tension" glaucoma. In addition to a complete workup and proper management of such a patient, careful consideration must be given to the differential diagnosis of clinical conditions presenting with optic disc cupping and visual field changes. We present an interesting clinical situation in which a patient with severe myopia and Leber's optic atrophy was referred for surgery for treatment of apparent progressive "low tension" glaucoma.

Optic atrophy. Differential diagnosis by fundus observation alone.

In order to assess the contribution of fundus examination to the differential diagnosis of acuqired optic neuropathy, five ophthalmologists viewed 163 fundus stereophotographs of nine disease entities as "unknowns." Glaucoma, central retinal artery occlusion (CRAO), and ischemic optic neuropathy (ION) were diagnosed by at least one observer with an accuracy above 80%. The remaining conditions (optic neuritis; compressive, traumatic, and hereditary optic neuropathies) were correctly identified with less than 50% accuracy. Retinal arteriolar attenuation and sheathing were most helpful in differentiating CRAO and ION. Although pathologic disc cupping often identified glaucoma, it was also seen in 20% of eyes with optic atrophy not associated with glaucoma. Excavation was more profound in glaucoma than in nonglaucomatous optic atrophy, the latter demonstrating relatively greater neuroretinal rim pallor. In 6% of nonglaucomatous optic atrophy eyes, however, disc cupping was misdiagnosed as "glaucomatous." Only 11% of eyes with previously documented papillitis or ION left clues that allowed observers to identify preexisting disc swelling.