Case Report: Nutritional and Toxic Optic Neuropathy: A Diagnostic Dilemma.

SIGNIFICANCE: Nutritional and toxic optic neuropathies are rare disorders characterized by visual impairment due to optic nerve damage by a toxin, usually with coexisting nutritional deficiencies. Its pathophysiology is still unclear, and multiple mechanisms implicated act synergistically to bring about this condition. The decline in its incidence and its confusing clinical appearance make diagnosing nutritional and toxic optic neuropathies challenging. PURPOSE: This is an observational clinical case report of an atypical clinical case of a nutritional and toxic optic neuropathy with a subacute presentation and papilledema at the time of diagnosis. The patient provided written informed consent for medical information and images to be published. CASE REPORT: A 47-year-old man presented with progressive, painless bilateral decrease in central vision over 15 days. The patient had a long-standing history of alcohol abuse and was a heavy smoker. The examination revealed dyschromatopsia, 20/400 visual acuity on both eyes, and no relative afferent pupillary defect. Funduscopy revealed bilateral papilledema. A visual field test showed generalized depression with centrocecal involvement in the left eye. Laboratory studies evidenced decreased vitamin B12/B1 and red blood cell folate levels, increased acute phase reactants, hypertransaminasemia, and macrocytic anemia. Serologies and methanol in urine were negative. After the discontinuation of tobacco use and alcohol accompanied by vitamin supplementation, our patient's visual field, visual acuity, and papilledema improved remarkably. After 5 months, visual acuity and funduscopy were normal. CONCLUSIONS: Although some hallmark signs were visible in this case, its subacute presentation and the presence of papilledema at diagnosis caused some diagnostic uncertainty. Nutritional and toxic optic neuropathy is a rare and challenging diagnosis because of a lack of biomarkers. Eye care clinicians should consider nutritional and toxic optic neuropathies to prevent severe and irreversible visual damage resulting from underdiagnosis and mismanagement.

Effect of acute and chronic aldosterone exposure on the retinal pigment epithelium-choroid complex in rodents.

Preclinical and clinical evidences show that aldosterone and/or mineralocorticoid receptor (MR) over-activation by glucocorticoids can be deleterious to the retina and to the retinal pigment epithelium (RPE)-choroid complex. However, the exact molecular mechanisms driving these effects remain poorly understood and pathological consequences of chronic exposure of the retina and RPE/choroid to aldosterone have not been completely explored. We aimed to decipher the transcriptomic regulation in the RPE-choroid complex in rats in response to acute intraocular aldosterone injection and to explore the consequences of systemic chronic aldosterone exposure on the morphology and the gene regulation in RPE/choroid in mice. High dose of aldosterone (100 nM) was intravitreously injected in Lewis rat eyes in order to yield an aldosterone dose able to induce a molecular response at the apical side of the RPE-choroid complex. The posterior segment morphology was evaluated in vivo using optical coherence tomography (OCT) before and 24 h after aldosterone injection. Rat RPE-choroid complexes were used for RNA sequencing and analysis. Uninephrectomy/aldosterone/salt (NAS) model was created in wild-type C57BL/6 mice. After 6 weeks, histology of mouse posterior segments were observed ex vivo. Gene expression in the RPE-choroid complex was analyzed using quantitative PCR. Acute intravitreous injection of aldosterone induced posterior segment inflammation observed on OCT. RNA sequencing of rat RPE-choroid complexes revealed up-regulation of pathways involved in inflammation, oxidative stress and RNA procession, and down-regulation of genes involved in synaptic activity, muscle contraction, cytoskeleton, cell junction and transporters. Chronic aldosterone/salt exposure in NAS model induces retinal edema, choroidal vasodilation and RPE cell dysfunction and migration. Quantitative PCR showed deregulation of genes involved in inflammatory response, oxidative stress, particularly the NOX pathway, angiogenesis and cell contractility. Both rodent models share some common phenotypes and molecular regulations in the RPE-choroid complex that could contribute to pachychoroid epitheliopathy in humans. The difference in inflammatory status relies on different intraocular or systemic route of aldosterone administration and on the different doses of aldosterone exposed to the RPE-choroid complex.

Combined etiology for bilateral and simultaneous optic neuropathy in a patient with ciancobalamin deficit and hepatitis C treated with peg-interferon and ribavirin.

We report the case of a 53-year-old female patient who developed bilateral sudden visual acuity loss after 15 weeks from the initiation of Peg-Interferon and Ribavirin treatment for hepatitis C. Debut was simultaneous and asymmetric, reported in the morning, at awakening. No pain or other symptom was reported by the patient. Results. At presentation, visual acuity was 0.2 in RE and 3/ 50 in LE. Pupillary reflexes were sluggish and severe dyschromatopsia was documented in both eyes (Ishihara plates). Fundus examination revealed bilateral pale optic disc edema, more prominent in LE, with splinter hemorrhages in the RNFL around the optic disk. Visual field exam demonstrated severe defects in 3 quadrants of the RE, whereas in the LE, it was impossible to perform the investigation due to VA<0.1. Neurologic evaluation was normal; other possible causes of systemic vasculitis were excluded by negative lab tests. Acute inflammatory markers (fibrinogen and ESR) and mild pancytopenia were the only documented laboratory changes in this patient. Anamnesis cleared the traditional risk factors for conventional AION (hypertension, diabetes, ischemic heart disease, and hypercholesterolemia). Cranial and orbital CT scan and MRI findings were normal. Patient was withdrawn from the Interferon and Ribavirin treatment and was administered methyl prednisolone pulse therapy (1g/ day) for 3 days, continued with oral Prednisone (60 mg/ day) tapered slowly for over 12 weeks. VA increased to 0.8 during treatment in the RE, but visual recovery in the LE was not as spectacular (0.16) as in the fellow eye. Modified latencies and amplitudes in evoked visual potentials examination during 4 months time emphasized bilateral optic atrophy. Optic nerve sufferance was amplified by a low level of vitamin B12, detected by chance at the last eye visit. Due to the general condition, dietary supplementation was not possible. Conclusion. A case of a patient with bilateral and simultaneous NAION caused by IFN and Ribavirin treatment for hepatitis C, who was also vitamin B12 deficient, was analyzed. Therefore, a combined etiology for optic atrophy was explained.

Ophthalmic features of optic disc drusen.

PURPOSE: To evaluate the ophthalmoscopic manifestations of patients with visible and hidden optic disc drusen (ODD). METHOD: We studied 55 patients (100 eyes) with ODD that were confirmed using B-scan ultrasonography and a control group of 60 patients (100 eyes) for differential diagnosis. We analysed the optic nerve features with stereoscopic photography and compared the characteristics between visible and hidden ODD and between hidden ODD and papilloedema. RESULTS: The patients with ODD presented the following ophthalmoscopic features: visible drusen (52%), blurred edges (84%), raised optic disc (74%), absence of optic disc cupping (69%), absence of venous pulse (54%), abnormal vascular branching (81%), presence of cilioretinal vessels (42%), peripapillary atrophy (56%) and haemorrhages (2%). Comparison of the qualitative characteristics of the papillae of the eyes with visible and hidden ODD showed statistically significant differences in all parameters studied, except for morphological alterations (p = 0.851) and haemorrhage (p = 0.954). Comparison of hidden ODD with papilloedema showed statistically significant differences in blurred edges, disc elevation, absence of optic disc cupping, altered colour, anomalous vascular branching and optic disc haemorrhages (p < 0.005). CONCLUSIONS: Ophthalmologic features associated with ODD can help us to diagnose their presence and avoid confusing them with papilloedema.

Dronabinol reduces signs and symptoms of idiopathic intracranial hypertension: a case report.

A case is presented in which a woman diagnosed with a longstanding history of idiopathic intracranial hypertension reported improvement of frontal headaches, photophobia, transient blindness, enlarged blind spots, and tinnitus after smoking marijuana. All these symptoms and signs were associated with increased intracranial pressure (220-425 mm of water). Treatment with dronabinol at a dose of 10 mg twice a day, then reduced to 5 mg twice a day, relieved all of her symptoms. Previously noted papilledema and enlargement of blind spots also resolved, and this, in the absence of psychoactive effect or weight gain.

Transpupillary thermotherapy in the management of juxtapapillary and parafoveal circumscribed choroidal hemangioma.

BACKGROUND: Circumscribed choroidal hemangioma (CCH) is a rare, vascular tumor that may be associated with formation of subretinal fluid, cystic retinal de-generation, and serous retinal detachment. Studies have suggested that proximity of this tumor to the fovea or optic nerve precludes the use of trans-pupillary thermotherapy (TTT) for treatment. We report our experience using TTT in managing patients with juxtapapillary and parafoveal CCH. METHODS: We reviewed the records of consecutive patients with CCH treated by TTT at Princess Margaret Hospital, Toronto, between November 1999 and March 2003. This resulted in 11 eyes of 11 patients with juxtapapillary or parafoveal tumors. Treatment was delivered via slit lamp using an 810 nm diode laser with 350 to 800 mW, a 3.0 mm spot, and duration range from 5 s to 90 s. Outcome measures were reduction in tumor thickness, resolution of serous fluid, tumor control, visual acuity, and complications of treatment. RESULTS: Mean age of patients was 47.6 years. Symptoms included blurred vision, metamorphopsia, light flashes, and floaters. Macular and optic disk edema, field defect, presence of subretinal fluid, and retinal detachment were noted. At presentation, Snellen visual acuity ranged from 20/70 to hand motions. Mean tumor base diameter was 6.0 mm and tumor thickness at baseline was 3.0 mm. Mean follow-up was 18.0 months. Post-TTT, mean tumor thickness was 2.8 mm. Macular and optic disk edema resolved in the majority of patients. Partial regression of the tumor was noted in 4 cases (36%) and good tumor control in 9 cases (82%). Visual acuity improved in 6 patients (55%). INTERPRETATION: TTT can be effective for treating juxtapapillary and para-foveal CCH. Proximity to the fovea and optic nerve may not be predictive of poor post-treatment visual acuity, although statistical analysis with a larger sample size would more clearly demonstrate a clear advantage.

Review of diseases of the optic nerve, optic tract, and visual cortex: 1975-76.

The ophthalmic literature dealing with diseases of the optic nerve, the optic tracts, and the visual cortex was reviewed for the period November 1975 through November 1976. Twenty-nine papers on topics of interest to optometrists were abstracted. The main areas of interest include: papilledema and optic atrophy (with ophthalmoscopic signs of both optic atrophy and papilledema); giant-cell arteritis; papillitis; interesting malformations of the face, palate, and orbital position that occur in conjunction with microphthalmus, situs inversus, and hypoplasia and aplasia of the optic nerve; the proposed association of myopia with unusual eyebrows; myelinated nerve fibers at the nerve head; pigment anomalies; the continuing discussion of nerve-head blood supply; an unexpected cause for nerve-head neovascularization; the importance of the swinging-flashlight test in the diagnosis of glaucoma; an unusual type of glaucomatous cupping; doubts about the peripapillary "halo" as a sign of glaucoma; new uses for old field tests; and new methods of ocular photography.

Funduscopic appearance of papilledema with optic tract atrophy.

In a child with a hypothalamic glioma, elevated intracranial pressure and retrograde optic tract atrophy produced distinctive patterns of papilledema and disc pallor in each eye. On the side of the tract lesion, the disc was swollen nasally and was pale temporally. In the contralateral fundus, the swollen optic disc was bisected horizontally by a pale atrophic band. These funduscopic signs exemplify a rare instance in neuro-ophthalmologic diagnosis wherein specific lateralizing and localizing information can be deduced solely from the appearance of papilledema.