Case Report: An Unusual Presentation of Leber's Hereditary Optic Neuropathy.

SIGNIFICANCE: Leber's hereditary optic neuropathy (LHON) is often associated with onset in the young, adult male demographic. This case report serves as a reminder that it can affect both sexes with onset into middle age. PURPOSE: Leber's hereditary optic neuropathy is a maternally inherited mitochondrial disorder that typically affects men during young adulthood. It presents with a rapid, yet painless loss of vision, with the fellow eye often affected within a few months. The optic neuropathy causes a dense central scotoma with visual acuities reduced to less than 20/400. CASE REPORT: A 60-year-old White woman presented with reports of decreased vision in both eyes for the previous 2 months. She had been followed up for the previous 5 years for glaucoma suspect monitoring, with full fields and normal optical coherence tomography scans. Entering visual acuity was finger counting at 1 m in the right eye and 20/100 in the left eye. Pupil testing revealed a grade 1 relative afferent pupillary defect in the right eye. Dilated fundus examination revealed stable moderate optic nerve cupping and intact neuroretinal rim tissue. Humphrey 24-2 Swedish Interactive Thresholding Algorithm standard visual field testing showed a significant superior altitudinal defect and inferior paracentral defect in the right eye and a partial superior arcuate in the left eye. The result of the MRI with contrast of the head and orbits was normal. A history of alcoholism was elicited, and LHON testing revealed positive 11778 mutation at homoplasmy. CONCLUSIONS: Although still uncommon, presentation of LHON in a middle-aged woman is possible and should be considered a viable differential diagnosis when individuals present with painless vision loss and central/centrocecal scotomas.

Hyperbaric Oxygen Therapy Combined with Immunosuppression for Acute Macular Neuroretinopathy in Systemic Lupus Erythematosus.

PURPOSE: To describe the use of hyperbaric oxygen therapy (HBOT) in conjunction with immunosuppression for acute macular neuroretinopathy (AMN) in systemic lupus erythematosus (SLE). METHODS: Two known cases of SLE presented to us with blurred vision and paracentral scotomas due to AMN. Both cases reported worsening of their conditions despite the initiation of high-dose steroid therapy. HBOT was added on as a treatment modality to address vaso-occlusive ischemic injury. RESULTS: Both patients underwent a total of twelve cycles of HBOT. Functional and anatomical improvements were noted immediately after the initiation of therapy and were maintained over more than one year of follow-up. No significant retinal thinning was noted on optical coherence tomography on disease resolution, as has been noted previously. Visual field scotoma showed a complete resolution. CONCLUSION: Our cases suggest that HBOT may have a role in aiding functional and anatomical recovery in AMN associated with SLE.

Effectiveness of Low Vision Rehabilitation Using Microperimetric Acoustic Biofeedback Training in Patients with Central Scotoma.

PURPOSE: To evaluate the efficacy of visual rehabilitation with microperimeter biofeedback in patients with central scotoma. MATERIALS AND METHODS: 35 consecutive patients with central scotoma (17 age-related macular degeneration (AMD), 14 Stargardt disease, and 4 cone dystrophy) were included in the study. Visual acuity, reading performance by Minnesota Low Vision Reading Test (MNREAD), quality of life by 25-item National Eye Institute Visual Function Questionnaire (NEI VFQ-25), and fixation analysis by MAIA microperimeter were evaluated before and 1 month after training. The rehabilitation program consisted of 10 training sessions of 10 minutes. RESULTS: The median best-corrected visual acuity (BCVA) was 0.80 logMAR (range 0.3 to 1.3 logMAR). Fifty-nine percent of patients with AMD developed a preferred retinal locus (PRL) nasal to the fovea, and 64% of the patients with Stargardt disease preferred a PRL superior to the fovea. The PRL location in 3 of 4 cone dystrophy patients was nasal to the fovea. The mean PRL distance from the fovea was 7.57 ± 3.61 degrees. Fixation stability improved with P1 values of 22.34 ± 11.81 versus 32.05 ± 18.79 (p = .003) and 95% bivariate contour ellipse area (BCEA) values of 41.6 versus 23.6 (p = .018) before and after training, respectively. There was a significant difference in reading acuity between before and after training (p = 0.008). The overall score and near activities score of NEI VFQ-25 were found to be increased at the end of the rehabilitation (p < 0.001). CONCLUSION: Rehabilitation with acoustic biofeedback in patients with central scotoma looks like a useful technique for improving fixation stability, reading performance and quality of life.

Biofeedback fixation training method for improving eccentric vision in patients with loss of foveal function secondary to different maculopathies.

PURPOSE: Fixation stability (FS) of the preferred retinal locus (PRL) may be improved by biofeedback fixation training (BFT) with microperimetry. Such training can be done on the patient's PRL or in different retinal loci with better functional characteristics. We studied both options and compared the outcomes. METHODS: Sixty-seven consecutive patients with bilateral central vision loss, poor FS and visual acuity (VA) lower than 0.3 LogMAR were recruited for BFT with microperimeter. Patients were assigned into 2 groups. In group A, BFT was performed on the patient's spontaneous PRL. In group B, PRL was located between 2 adjacent loci with the highest light sensitivity and the lowest distance from the fovea. Two sets of 12 weekly BFT sessions were performed. Primary outcomes were: FS, VA and reading speed. RESULTS: Outcomes were statistically significantly better in group B. Mean percentage of FS at therapy end improved from 32 to 35% for group A and from 40 to 55% in group B. Mean VA improved from 1 to 0.86 in group A and from 1 to 0.84 in group B. Reading speed (wpm) improved from 56 to 58 in group A and from 63 to 89 in group B. CONCLUSIONS: This study describes a reliable methodology of improving eccentric fixation stability using BFT in microperimetry, when the fixation training locus is individualized as the retinal area with best functional characteristics. Further studies are needed to validate its value in a larger scale of patients, at different stages of the disease, and its persistence over time.

Development of Glaucomatous Visual Field Defects in Preperimetric Glaucoma Patients Within 3 Years of Diagnosis.

PURPOSE: To determine the characteristics of eyes diagnosed with preperimetric glaucoma (PPG) that developed glaucomatous visual field defects (VFDs) within 3 years of the diagnosis. PATIENTS AND METHODS: The medical charts of 77 eyes of 77 patients with PPG were reviewed. An eye was diagnosed with PPG when there was neuroretinal rim thinning, cupping of the optic disc, or a suspicious retinal nerve fiber layer (RNFL) defect, and had no conditions fulfilling Anderson's criteria for glaucoma. The Central 30-2 SITA-Standard program of the Humphrey Field Analyzer was used to determine the presence of VFDs and the thicknesses of the retinal layers was determined by spectral-domain optical coherence tomography. RESULTS: Ten of the 77 patients with PPG (13.0%) developed glaucomatous VFD. These 10 eyes had significantly thinner macular ganglion cell and inner plexiform layer (mGCIPL) thickness in the inferior and inferotemporal sectors, and also the circumpapillary retinal nerve fiber layer (cpRNFL) thickness at the 7 or 8 o'clock sectors. In the 3 years post-PPG period, these eyes had significant decreases in the mGCIPL thickness of all the inferior sectors, and cpRNFL at the 7 or 8 o'clock sectors. The mean intraocular pressure in eyes with VFDs (15.2±2.0 mm Hg) was significantly higher than that in those without VFDs (13.5±2.6 mm Hg; P=0.042). CONCLUSIONS: Significant structural changes were observed in the mGCIPL and cpRNFL at PPG diagnosis, before the development of a VFDs. Close monitoring of intraocular pressure is essential for the appropriate management of PPG.

Microperimetry biofeedback training in a patient with bilateral myopic macular degeneration with central scotoma.

Microperimetry-1 (MP-1) evaluation and MP-1 biofeedback training were done in a case of bilateral myopic macular degeneration with a central scotoma. Fixation behavior, location and stability of preferred retinal locus, eye movement speed, and mean sensitivity were assessed. The mean retinal sensitivities before, after and at 1-year after training in the right eye were 2.9 dB, 2.9 dB and 3.7 dB and in the left eye were 3.5 dB, 3.7 dB and 1.8 dB. The fixation point in the 2° gravitation circle, improved from 40% to 50% in the right eye and from 43% to 67% in the left eye. The average eye speed before, after and at 1-year after training in right eye were 0.19°/s, 0.26°/s and 0.25°/s and in left eye were 0.36°/s, 0.25°/s and 0.27°/s. Thus, biofeedback training using MP-1 can improve the visual function in patients with macular diseases and central scotoma.

[Efficacy of conservative treatment in patients with dry form of age-related macular degeneration].

AIM: To evaluate the efficacy of conservative treatment in dry AMD patients by means of 3D computer-automated threshold Amsler grid testing (3D-CTAG; Fink & Sadun, 2004). MATERIAL AND METHODS: The study included 90 patients (180 eyes) with dry AMD divided into three groups. Group 1 (n = 30) was prescribed Vitrum Vision forte, 1 tablet b.i.d., group 2 (n = 30)--Vitrum Vision forte, 1 tablet b.i.d. and Vitrum Cardio Omega-3, 1 capsule b.i.d. Group 3 (n = 30), the controls, received Taurine 250 mg, 1 tablet b.i.d. Besides standard ophthalmic examination, all patients underwent 3D-CTAG before and after the treatment. The number of defects per eye (ND) and volume lost relative to the hill-of-vision (VLRH) were chosen as evaluation criteria. RESULTS: After 3 months of treatment ND decreased from 0.33 ± 0.02 to 0.22 ± 0.01 in group 1 (p < 0.01) and from 0.33 ± 0.02 to 0.2 ± 0.01 in group 2 (p < 0.01); VLRH decreased from 0.32 ± 0.02% to 0.15 ± 0.01% out of 693,000 [deg2%] in group 1 (p < 0.01) and from 0.32 ± 0.03% to 0.15 ± 0.01% out of 693,000 [deg2%] in group 2 (p < 0.01). In the controls both indices increased: ND from 0.32 ± 0.02 to 0.37 ± 0.02 and VLRH from 0.35 ± 0.24% to 0.49 ± 0.03% out of 693,000 [deg2%] (p < 0.01). CONCLUSION: The positive effect of Vitrum Vision forte in combination with Vitrum Cardio Omega-3 on macular function is comparable to that of monotherapy with Vitrum Vision forte. The maximum effect was achieved in patients with small scotomas (VLRH < 1.5% out of 693,000 [deg2%]).

Visual rehabilitation in patients with myopic maculopathy: our experience.

OBJECTIVE: To evaluate the efficacy of the MP-1 microperimeter (Nidek Technologies Srl, Padova, Italy) and Visual Pathfinder (LACE Inc) in improving visual function of patients with myopic maculopathy. DESIGN: Prospective, nonrandomized, interventional case series. PARTICIPANTS: Seventeen patients (34 eyes) between 36 and 58 years of age with myopic maculopathy and central retinal scotomas. METHODS: After a complete eye examination, all patients underwent 10 training sessions with MP-1 biofeedback (7 minutes) and Visual Pathfinder (3 minutes) for each eye once a week. Statistical analysis was performed with Student t test. The p values less than 0.05 were considered statistically significant. RESULTS: The mean best corrected visual acuity increased from 0.64 ± 0.22 to 0.38 ± 0.20 logMAR at the end of follow-up (p = 0.03); visual-evoked potential P100 amplitude increased from 3.54 ± 1.90 to 6.64 ± 2.91 µV at the end of follow-up (p = 0.04); average retinal sensitivity, calculated in the 12 degrees of the central retina, increased from 6.6 ± 2.6 to 14.6 ± 3.6 dB (p = 0.03). Fixation behaviour in the 2 degrees of the central retina increased from 45% ± 17% to 75% ± 23% (p = 0.04). The bivariate contour ellipse area (95%) increased from 10.34 ± 3.11 to 7.64 ± 2.71 square degrees (p = 0.04). CONCLUSIONS: The combination of acoustic biofeedback training with MP-1 and Visual Pathfinder offers a reasonable improvement of visual function in patients with myopic maculopathy. This method might be considered as a rehabilitative strategy as a "therapeutic option" in these patients for whom most treatments usually do not work.

Late onset optic neuropathy in methylmalonic and propionic acidemia.

PURPOSE: To describe 3 cases of late-onset bilateral optic neuropathy with visual dysfunction in patients with organic acidemia. DESIGN: Retrospective case series. METHODS: A total of 3 subjects, a 16-year-old male with methylmalonic acidemia (MMA), a 21-year-old male with MMA, and a 20-year-old female with propionic acidemia (PA), are included in this series. Comparison of the patients' clinical course, ophthalmologic exam, and testing are discussed. The outcome measures include visual acuity (VA), fundus appearance, visual fields, brain imaging, and genetic testing. RESULTS: All 3 subjects had late-onset severe bilateral VA loss with bilateral optic nerve pallor, central or cecocentral scotomas on visual field testing, and negative diagnostic workups for other causes of bilateral optic neuropathy. CONCLUSIONS: Patients with organic acidemia may develop late-onset bilateral optic neuropathy with visual dysfunction despite lifelong propiogenic amino acid restriction and dietary supplementation.

Leber hereditary optic neuropathy associated with use of ephedra alkaloids.

PURPOSE: We report a case of Leber hereditary optic neuropathy in a patient who was using ephedra alkaloids at the time of onset of his optic neuropathy. DESIGN: Observational case report. METHODS: Bilateral, painless, progressive loss of vision developed in a 30-year-old man. He reported a one pack-per day, 10-year history of tobacco use and drinking 18 to 24 cans of beer per day as well as the use of a dietary supplement containing ephedra and caffeine before the onset of vision loss. RESULTS: We report the bilateral, progressive, painless loss of vision in a patient with bilateral cecocentral scotomas and optic nerve pallor. Mitochondrial DNA testing confirmed a Leber hereditary optic neuropathy mutation site at loci 11778. CONCLUSIONS: We propose that our patient's use of a dietary supplement containing ephedra alkaloids played an additive role to his tobacco and alcohol use in causing stress to the already abnormal mitochondrial function, and thereby contributed to the onset of his optic neuropathy. We recommend that patients and families with known Leber hereditary optic neuropathy should be asked about the use of over-the-counter drugs or supplements, and it may be prudent to advise patients against using such dietary supplements.

Compressive optic neuropathy caused by renal osteodystrophy. Case report.

Compressive optic neuropathy with acute or chronic vision loss has been associated with various skull base tumors, aneurysms, Graves disease, trauma, and, less commonly, fibrous dysplasia and osteopetrosis. The authors present a case of acute visual deterioration in a 25-year-old woman who had massive calvarial hypertrophy with optic canal stenosis secondary to renal osteodystrophy (uremic leontiasis ossea [ULO]: bighead disease). Significant visual field restoration was achieved with high-dose corticosteroids followed by optic nerve decompression. This is the first case report of cranial neuropathy associated with ULO.

Coffee and doughnut maculopathy: a cause of acute central ring scotomas.

AIMS: To report the clinical features of five patients with non-progressive central ring scotomas of acute onset associated with excellent retained visual acuity. METHODS: Complete neuro-ophthalmological examinations were performed. Visual fields were performed by tangent screen, Goldmann, or Humphrey perimetry. In some cases further testing was carried out including fundus photography, fluorescein angiography, ERG, VEP, and neuroimaging. RESULTS: The patients were three women and two men whose ages ranged from 25 to 57 years. Four patients were heavy caffeine consumers while the fifth patient experienced an episode of hypotension. Vision loss was acute in all cases. The onset of vision loss was bilateral/simultaneous in three cases, bilateral/sequential in one case, and unilateral in one case. All affected eyes retained visual acuities of 20/25 or better. Colour vision was subnormal in three of four cases. Visual field defects were characterised by a central ring scotoma having an outer diameter less than 10 degrees. Fundus examination demonstrated temporal optic nerve pallor in three patients (five of 10 affected eyes) and reddish, petaloid macular lesions in one patient. Good visual acuity was maintained for the duration of follow up in all five patients. CONCLUSION: Central ring scotomas with excellent retained visual acuity may present as an acute, bilateral syndrome in patients who are heavy caffeine consumers. The configuration of visual field loss and its location, combined with the presence of temporal pallor in five eyes, suggest that the defect localises to the inner layers of the macula. While these cases could be considered an expansion of the clinical spectrum of acute macular neuroretinopathy, some may represent a distinct entity.

Toxic optic neuropathy after concomitant use of melatonin, zoloft, and a high-protein diet.

Melatonin is a neuromodulating hormone found in the pineal gland and retina. It is involved in light-dark circadian rhythms and mediates retinal processes in a manner antagonistic to that of dopamine. Zoloft (sertraline) is an antidepressant drug that blocks the reuptake of serotonin at the neural synapse. Serotonin is the natural precursor of melatonin. A 42-year-old woman sought treatment for visual acuity loss, dyschromatopsia, and altered light adaptation. Neuro-ophthalmologic examination was otherwise normal except for evolving bilateral cecocentral scotomas. She had taken Zoloft for 4 years and began a high-protein diet with melatonin supplementation 2 weeks before onset of visual symptoms. Visual acuity and color vision improved within 2 months after melatonin and the high-protein diet were discontinued. Combined use of melatonin, Zoloft, and a high-protein diet may have resulted in melatonin/dopamine imbalance in the retina, manifesting as a toxic optic neuropathy. Physicians and patients should be alerted to this potential drug interaction.

Transpupillary thermotherapy as primary treatment for small choroidal melanomas.

OBJECTIVE: To report the short-term follow-up results of eyes containing small choroidal melanomas that were treated with transpupillary thermotherapy. METHODS: Twenty eyes with suspected small choroidal melanomas were treated with transpupillary thermotherapy using infrared light delivered from the diode laser. RESULTS: The age of the patients ranged from 26 to 82 years. In 14 patients, there was documented growth of the melanoma before transpupillary thermotherapy. The tumor thickness ranged from less than 1.0 to 3.2 mm. Seven tumors were treated more than once. Follow-up ranged from 6 months to more than 3 years. Following treatment, the tumor thickness decreased in all cases, usually within 2 months. Progressive atrophy of tumor mass and loss of pigmentation within the tumor continued beyond 1 year of follow-up in some eyes. Complications included field defects, vascular changes, and macular abnormalities. CONCLUSIONS: Transpupillary thermotherapy of small choroidal melanomas is usually followed by early tumor shrinkage but is complicated by dense scotomas, nerve fiber bundle defects, and, occasionally, macular abnormalities. The short-term follow-up results suggest that transpupillary thermotherapy may arrest the growth of selected small melanomas.

Monocular scotomata and spinal manipulation: the step phenomenon.

OBJECTIVE: To discuss a case history wherein microvascular spasm of the optic nerve was treated by spinal manipulation. CLINICAL FEATURES: A 62-yr-old man developed a scotoma in the vision of the right eye during chiropractic treatment. INTERVENTION AND OUTCOME: Spinal manipulation treatment was continued with total resolution of the scotoma. The rate of recovery of the scotoma was mapped using computerized static perimetry. These measurements showed that significant recovery occurred at each spinal manipulation treatment, producing a stepped graph. CONCLUSION: The use of computerized static perimetry to measure the cerebral effects of spinal manipulation has increased knowledge of how chiropractic works. The further recovery of vision with each spinal adjustment suggests that more treatment may be better than less treatment in the chiropractic management of such cases.

Night blindness in Sorsby's fundus dystrophy reversed by vitamin A.

Sorsby's fundus dystrophy (SFD) is an autosomal dominant retinal degeneration caused by mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) gene. Mechanisms of the visual loss in SFD, however, remain unknown. In a SFD family with a novel TIMP3 point mutation, we tested a hypothesis that their night blindness is due to a chronic deprivation of vitamin A at the level of the photoreceptors caused by a thickened membrane barrier between the photoreceptor layer and its blood supply. Vitamin A at 50,000 IU/d was administered orally. Within a week, the night blindness disappeared in patients at early stages of disease. Nutritional night blindness is thus part of the pathophysiology of this genetic disease and vitamin A supplementation can lead to dramatic restoration of photoreceptor function.

Pallidotomy for Parkinson's disease.

Ventroposterolateral pallidotomy was used in the surgical treatment of 259 patients suffering from intractable Parkinson's disease. Pallidotomy was equally effective against tremor, rigor, bradykinesia, and the L-dopa-induced dyskinesias. The effect of surgery seemed to be long-lasting, and side effects were rare. The author believes that the beneficial effect of pallidotomy is based on interruption of striopallidal and pallidosubthalamic pathways.

Purtscher-like retinopathy after retrobulbar anesthesia.

A Purtscher-like retinopathy occurred in a 41-year-old woman who underwent the excision of a pterygium after a retrobulbar injection of 3 ml of lidocaine HCl. Visual acuity increased from 20/200 on the first postoperative day to 20/25, 12 weeks later. The exudates and the hemorrhages progressively disappeared. However, a relative, localized, paracentral scotoma and an afferent pupil defect still persist. The pathophysiology of this Purtscher-like retinopathy is discussed.