Natural History of Conversion of Leber's Hereditary Optic Neuropathy: A Prospective Case Series.

PURPOSE: To illustrate the natural history of Leber's hereditary optic neuropathy (LHON). DESIGN: Prospective observational case series. PARTICIPANTS: The Soave-Brazil pedigree of m.11778G>A/ND4 mitochondrial DNA LHON mutation. METHODS: A prospectively acquired database of the Soave-Brazil pedigree was reviewed. Data from 285 individuals were included in the database over a 15-year period. The pedigree was reviewed for unaffected mutation carriers who converted to affected status, 6 patients with LHON were identified. The medical records were reviewed 1 year preconversion to 1 year postconversion for visual acuity (logarithm of the minimum angle of resolution [logMAR]), Humphrey Visual Field (HVF) mean deviation (MD), and retinal nerve fiber layer (RNFL) thickness, as measured by Cirrus (Carl Zeiss, Oberkochen, Germany) optic coherence tomography (OCT). The RNFL thickness values were normalized for age. Visual acuity, HVF, and processed RNFL data from each of the 12 eyes were then sorted into 2-month time periods relative to the date of conversion, within which they were averaged. MAIN OUTCOME MEASURES: The main outcome measures were visual acuity, HVF MD, and RNFL thickness. RESULTS: Decreased visual acuity preceded conversion by up to 2 months and then declined up to 8 months postconversion. Decrease in HVF MD occurred at least 4 months preceding conversion, after which values decreased until plateau at 6 to 8 months. Average RNFL thickness was above normal baseline thickness in all 4 quadrants as measured by OCT at the time of conversion. Increase in RNFL thickness preceded conversion as early as 4 to 6 months, peaked at conversion, and decreased until individual plateaus. The temporal quadrant was first to be involved, then the inferior and superior quadrants, and the nasal quadrant showed the latest and least changes. CONCLUSIONS: Subclinical changes preceded the date of conversion and may reflect the complicated nature of identifying the date of conversion in LHON. Early increases in RNFL preceding conversion suggest that structural changes precede clinically significant vision loss. Asynchronous quadrant involvement supports a previously published mathematical model. The natural history of LHON is not a subacute process, as previously believed, but progresses more slowly, taking up to 8 months to plateau.

Nonarteritic anterior ischemic optic neuropathy after uneventful phacoemulsification: case report.

To report a case of nonarteritic anterior ischemic optic neuropathy (NAION) after uneventful cataract extraction and intraocular lens implantation. Prospective, observational case report and literature review. We report the case history of a 74-year-old woman who underwent phacoemulsification and developed sudden loss of vision on the 13th postoperative day. After complete ocular and systemic evaluation the diagnosis of NAION was made. NAION can be associated with cataract extraction, and surgeons should be aware of this potentially blinding complication.

The pupil light reflex in Leber's hereditary optic neuropathy: evidence for preservation of melanopsin-expressing retinal ganglion cells.

PURPOSE: To investigate the pupillary light reflex (PLR) of patients with severe loss of vision due to Leber's Hereditary Optic Neuropathy (LHON) in the context of a proposed preservation of melanopsin-expressing retinal ganglion cells (mRGCs). METHODS: Ten LHON patients (7 males; 51.6 ± 14.1 years), with visual acuities ranging from 20/400 to hand motion perception and severe visual field losses, were tested and compared with 16 healthy subjects (7 males; 42.15 ± 15.4 years) tested as controls. PLR was measured with an eye tracker and the stimuli were controlled with a Ganzfeld system. Pupil responses were measured monocularly, to 1 second of blue (470 nm) and red (640 nm) flashes with 1, 10, 100, and 250 cd/m² luminances. The normalized amplitude of peak of the transient PLR and the amplitude of the sustained PLR at 6 seconds after the flash offset were measured. In addition, optical coherence topography (OCT) scans of the peripapillary retinal nerve fiber layer were obtained. RESULTS: The patient's peak PLR responses were on average 15% smaller than controls (P < 0.05), but 5 out of 10 patients had amplitudes within the range of controls. The patients' sustained PLRs were comparable with controls at lower flash intensities, but on average, 27% smaller to the 250 cd/m² blue light, although there was considerable overlap with the PLR amplitudes of control. All patients had severe visual field losses and the retinal nerve fiber layer thickness was reduced to a minimum around the optic disc in 8 of the 10 patients. CONCLUSIONS: The PLR is maintained overall in LHON patients despite the severity of optic atrophy. These results are consistent with previous evidence of selective preservation of mRGCs.

Effect of EPI-743 on the clinical course of the mitochondrial disease Leber hereditary optic neuropathy.

OBJECTIVE: To evaluate the safety and efficacy of a new therapeutic agent, EPI-743, in Leber hereditary optic neuropathy (LHON) using standard clinical, anatomic, and functional visual outcome measures. DESIGN: Open-label clinical trial. SETTING: University medical center. Patients  Five patients with genetically confirmed LHON with acute loss of vision were consecutively enrolled and treated with the experimental therapeutic agent EPI-743 within 90 days of conversion. Intervention  During the course of the study, 5 consecutive patients received EPI-743, by mouth, 3 times daily (100-400 mg per dose). MAIN OUTCOME MEASURES: Treatment effect was assessed by serial measurements of anatomic and functional visual indices over 6 to 18 months, including Snellen visual acuity, retinal nerve fiber layer thickness measured by optical coherence tomography, Humphrey visual fields (mean decibels and area with 1-log unit depression), and color vision. Treatment effect in this clinical proof of principle study was assessed by comparison of the prospective open-label treatment group with historical controls. RESULTS: Of 5 subjects treated with EPI-743, 4 demonstrated arrest of disease progression and reversal of visual loss. Two patients exhibited a total recovery of visual acuity. No drug-related adverse events were recorded. CONCLUSIONS: In a small open-label trial, EPI-743 arrested disease progression and reversed vision loss in all but 1 of the 5 consecutively treated patients with LHON. Given the known natural history of acute and rapid progression of LHON resulting in chronic and persistent bilateral blindness, these data suggest that the previously described irreversible priming to retinal ganglion cell loss may be reversed.

Visual outcome in surgically treated suprasellar meningiomas.

OBJECTIVE To determine long-term (>10 years) visual outcome in patients with suprasellar meningiomas. METHODS Retrospective case series.RESULTS Among 18 patients who underwent surgery for suprasellar meningioma (1 patient died postoperatively), 1 experienced initial improvement in vision in both eyes, 8 experienced improvement in vision in one eye and maintained stable vision in the other eye, 2 experienced improvement in vision in one eye and worsening of vision in the other, 3 experienced worsening of vision in one eye and stable vision in one eye, and 4 maintained stable visual acuity in both eyes. No patient experienced postoperative worsening of vision in both eyes. During 10 years or more of follow-up, 10 of the patients (56%) maintained stable vision in both eyes, 6 patients (33%) experienced loss of vision in one eye while maintaining stable vision in the other, and 2 patients (11%) experienced loss of vision in both eyes. During this period, 7 of the 18 patients (39%) developed neuroimaging evidence of tumor growth or recurrence, with a mean time of 10.7 years. Four of these patients were thought to have had gross total resection of their tumor. Patients who experienced worsening of vision during the follow-up period were more likely to have developed neuroimaging evidence of growth or recurrence (five patients) than patients without such evidence (two patients), and such patients did not regain vision following subsequent surgery or radiation therapy. Nevertheless, at final examination, 13 patients (72%) had visual acuity of 20/40 or better in at least one eye. CONCLUSIONS The long-term visual prognosis for patients who undergo surgery for suprasellar meningioma is excellent, although tumor recurrence is common, even in patients thought to have undergone gross total removal of their tumor, and often occurs more than 10 years after surgery. Patients who develop tumor recurrence are likely to lose vision in at least one eye and are unlikely to achieve improvement in vision with subsequent surgery or radiation therapy. Thus, patients with suprasellar meningiomas believed to have been completely resected should undergo long-term, serial postoperative clinical examinations and neuroimaging to allow detection and further treatment of recurrences as early as possible. Postoperative radiation therapy should be considered for patients whose suprasellar meningiomas have been incompletely resected.

Giant cavernous malformation of the occipital lobe.

A 15-year-old boy who developed severe headaches and an incomplete homonymous hemianopia was found to have a large, well-circumscribed, multilobulated intracranial mass in the contralateral occipital lobe. The initial impression was that of a low-grade glioma or a vascular malformation. When the lesion increased in size and complexity, concern arose about the possibility of a malignant glioma. Upon craniotomy, it proved to be a giant cerebral cavernous malformation. This case is remarkable in that most cavernous malformations do not become symptomatic before the third decade of life and rarely attain such a large size.

Nonarteritic anterior ischemic optic neuropathy after uneventful phacoemulsification: case report

To report a case of nonarteritic anterior ischemic optic neuropathy (NAION) after uneventful cataract extraction and intraocular lens implantation. Prospective, observational case report and literature review. We report the case history of a 74-year-old woman who underwent phacoemulsification and developed sudden loss of vision on the 13th postoperative day. After complete ocular and systemic evaluation the diagnosis of NAION was made. NAION can be associated with cataract extraction, and surgeons should be aware of this potentially blinding complication.

Os autores relatam um caso de neuropatia óptica isquêmica anterior (NOIA) não-arterítica após facoemulsificação de rotina e implante de lente intra-ocular. Uma paciente de 74 anos do sexo feminino foi submetida à cirurgia de catarata pela técnica de facoemulsificação e desenvolveu perda súbita e grave de visão no décimo terceiro dia pós-operatório. Após extensa investigação clínica e laboratorial, ocular e sistêmica, foi feito o diagnóstico de NOIA não-arterítica. Feita revisão da literatura, encontrando-se descrição desta complicação em raros casos associada a facectomia e implante de lente intra-ocular.

Síndrome de Wolfram: relato de caso / Wolfram syndrome: case report

A síndrome de Wolfram consiste na associação de diabetes mellitus e atrofia óptica. Outros achados comuns são surdez neurossensorial, alterações do trato urinário e distúrbios neurológicos. Tem padrão de herança autossômico recessivo com penetrância incompleta e expressividade variável. O objetivo deste relato é apresentar paciente que apresenta todas as características da síndrome de Wolfram (ou síndrome DIDMOAD). JFP, negro, 23 anos, apresenta diabetes mellitus e insipidus, atrofia óptica, surdez neurossensorial, polineuropatia periférica, neuropatia autonômica, bexiga neurogênica, dilatação do trato urinário, infecções repetidas do trato urinário e azoospermia. Os exames clínico-oftalmológico, retinografia, angiografia fluoresceínica, eletrorretinografia (ERG) e potencial visual evocado (PVE) mostram padrão de normalidade retiniana e de atrofia de nervos ópticos. A síndrome de Wolfram deve ser lembrada em casos de atrofia óptica associados a diabetes, poliúria, polidipsia ou a qualquer uma das alterações apresentadas.

Fibrose subepitelial pós-hidrópsia aguda induzida por ceratomia radial / Subepithelial fibrosis after acute hydrops induced by radial keratotomy

Os autores apresentam um caso de suspeita de descompensaçäo de ceratocone após ceratotomia radial (RK). Demonstra-se aumento da profundidade da câmara anterior bilateral, aumento da espessura corneal central (800 µm), com cicatriz hipertrófica provavelmente pós-hidrópsia em olho direito, e diminuiçäo da espessura corneal central (350 µm), com afinamento secundário em olho esquerdo (biomicroscopia ultra-sônica e paquimetria). A ceratoscopia computadorizada, impossibilita em olho direito, apresenta uma ectasia corneal superior (56D) em olho esquerdo. Sugere-se exame pré-operatório meticuloso, e contra-indicaçäo de cirurgia incisional em casos de fragilidade corneana aumentada, como ceratocone

Correlaçäo entre bacterioscopia e cultura nas úlceras de córnea e as implicaçöes do uso de antibiótico prévio / Bacterioscopy and culture correlation in corneal ulcers and the implications with previous antibiotic use

Foi realizado estudo retrospectivo de 123 resultados de bacterioscopia e cultura de úlceras de córnea a fim de estabelecer suas correlaçöes e a influência do uso de antibiótico prévio.57 casos(43, 2 por cento)apresentaram resultados negativos para ambos os testes, dos quais 43(75, 4 po cento)näo usaram antibiótico prévio.Näo houve discordância significante entre os resultados da bacterioscopia e cultura (p=0, 15).O uso do antibiótico pareceu näo interferir na positividade da bacterioscopia(0, 88) ou cultura(p=0, 14).No entanto, quando foram analisados os pacientes com bacteriocopia positiva, observou-se interferência significante do antibiótico na positividade das culturas (p=0, 03).Esse estudo sugere que o uso de antibiótico prévio influencia os resultados da cultura em determinadas situaçöes.

Prognóstico visual de longo prazo para portadores de meningiomas supra-selares / Long-term visual prognosis for patients with suprasellar meningiomas

Objetivo: Determinar o prognóstico visual de longo prazo (maior ou igual a dez anos) de pacientes com meningiomas supra-selares. Métodos: Análise retrospectiva de casos Resultados: Vinte pacientes com meningiomas supra-selares foram avaliados e seguidos pelo tempo médio de 16,6 anos. Todos apresentavam queixas visuais no exame inicial. Dois pacientes não foram tratados e apresentaram piora progressiva da visão em ambos os olhos; 18 foram submetidos a tratamento cirúrgico para ressecção da lesão. Houve taxa de mortalidade de 5 por cento, incidência de morbidade neurológica de 17 por cento, e 44 por cento de morbidade visual. Oito (44 por cento) dos pacientes tratados apresentaram evidências de recidiva tumoral (tempo médio de 10,7 anos); cinco destes foram submetidos à nova cirurgia. Cinco pacientes também foram submetidos à radioterapia convencional, dois deles somente após evidências de recorrência. A acuidade visual final melhorou em 39 por cento dos pacientes, permaneceu estável em 22 por cento e piorou em 39 por cento. A AV foi melhor ou igual ao exame inicial em 61 por cento dos pacientes tratados, ou em 89 por cento dos pacientes tratados que não apresentaram recidiva tumoral. No exame final, 72 por cento dos pacientes apresentaram acuidade visual de 20/40 ou melhor em pelo menos um dos olhos. Os outros parâmetros de avaliação da função visual geralmente acompanharam a evolução da acuidade visual. Conclusões: O grupo de pacientes acompanhados clinicamente apresentou resultados visuais de longo prazo bastante inferiores aos do grupo tratado. No grupo de pacientes tratados cirurgicamente os resultados visuais foram melhores quando não houve complicações intra-operatórias e/ou recidiva tumoral