RESUMO Objetivo: Analisar o quadro clínico, a acuidade visual e o eletrorretinograma de campo total (ERG) de 15 pacientes com o fenótipo da lipofuscinose ceróide neuronal (LCN), estabelecendo o papel do eletrorretinograma no seu diagnóstico. Métodos: Eletrorretinograma foi realizado em 5 pacientes com lipofuscinose ceróide neuronal infantil, 5 com doença de Jansky-Bielschowsky e 5 com lipofuscinose ceróide neuronal juvenil sendo feita uma análise retrospectiva dos registros médicos. Resultados: A perda progressiva da acuidade visual foi o sintoma inicial em 66,7%; isolada ou associada à ataxia, epilepsia e involução do desenvolvimento neuropsico motor. Epilepsia foi o sintoma inicial em 93,3% e 86,6% apresentaram involução do desenvolvimento neuropsicomotor. Achados fundoscópicos variaram de normal a alterações pigmentares/atróficas. Disfunção de cone-bastonete foi constatada em 6 pacientes, bastonete-cone em 1 e em 8 pacientes observou-se disfunção proporcional de ambos os sistemas. Conclusão: O eletrorretinograma foi alterado em todos os pacientes, e o achado mais frequente foi o comprometimento de cones e bastonetes. O eletrorretinograma constitui, portanto, uma ferramenta valiosa para caracterizar a disfunção visual em pacientes com o fenótipo da lipofuscinose ceróide neuronal, contribuindo para seu diagnóstico.

ABSTRACT Purpose: To analyze the clinical features, visual acuity, and full-field electroretinogram (ERG) findings of 15 patients with the neuronal ceroid lipofuscinosis (NCL) phenotype and to establish the role of ERG testing in NCL diagnosis. Methods: The medical records of five patients with infantile NCL, five with Jansky-Bielschowsky disease, and five with juvenile NCL who underwent full-field ERG testing were retrospectively analyzed. Results: Progressive vision loss was the initial symptom in 66.7% of patients and was isolated or associated with ataxia, epilepsy, and neurodevelopmental involution. Epilepsy was present in 93.3% of patients, of whom 86.6% presented with neurodevelopmental involution. Fundus findings ranged from normal to pigmentary/atrophic abnormalities. Cone-rod, rod-cone, and both types of dysfunction were observed in six, one, and eight patients, respectively. Conclusion: In our study, all patients with the NCL phenotype had abnormal ERG findings, and the majority exhibited both cone-rod and rod-cone dysfunction. We conclude that ERG is a valuable tool for the characterization of visual dysfunction in patients with the NCL phenotype and is useful for diagnosis.

RESUMO Objetivo: Investigar a contribuição dos potenciais visuais evocados por padrões reversos no diagnóstico de simulação de baixa de visão em um hospital universitário do Brasil. Métodos: Um grupo de pacientes adultos com suspeita de simulação de baixa de visão em um ou ambos os olhos foi avaliado e os dados analisados retrospectivamente. Foram medidos: acuidade visual de optotipos informada para longe utilizando a tabela ETDRS, parâmetros dos potenciais visuais evocados por padrões reversos de latência (milissegundos) e amplitude (microvolts) para o componente P100 com estímulos de ângulos visuais de 15' e 60'. A motivação do paciente para a simulação foi anotada. Resultados: Os participantes foram 20 indivíduos com 11 (55%) do sexo feminino. A idade variou de 21 a 61 anos (média= 45,05 ± 11,76 anos; mediana= 49 anos). Em 8 pacientes (6 mulheres) ambos os olhos tinham acuidade visual reduzida com parâmetros dos potenciais visuais evocados por padrão reverso normais para ambos os olhos (simuladores puros). Uma subsérie separada de 12 pacientes (7 homens) tinha visão reduzida em apenas um olho e estavam simulando redução da visão no outro olho (exacerbadores). A motivação financeira foi observada em 18 pacientes (9 homens). Conclusões: Parâmetros dos potenciais visuais evocados por padrões reversos normais foram encontrados neste grupo de 20 pacientes com suspeita de simulação. Esta técnica eletrofisiológica pode ser útil como uma medida da integridade do sistema visual nesta população de doentes.

ABSTRACT Purpose: To investigate the contributions of transient pattern-reversal visual evoked potentials in the diagnosis of ocular malingering at a Brazilian university hospital. Methods: Adult patients with suspected malingering in one or both eyes were referred for visual evoked potential testing. Data from patients' medical records were reviewed and analyzed retrospectively. Data analysis included the distance optotype visual acuity based on a ETDRS retro-illuminated chart and the transient pattern-reversal visual evoked potential parameters of latency (milliseconds) and amplitude (microvolts) for the P100 component, using checkerboards with visual subtenses of 15' and 60'. Motivations for malingering were noted. Results: The 20 subjects included 11 (55%) women. Patient ages ranged from 21 to 61 years (mean= 45.05 ± 11.76 years; median= 49 years). In 8 patients (6 women), both eyes exhibited reduced visual acuity with normal pattern-reversal visually evoked potential parameters (pure malingerers). The remaining 12 patients (7 men) exhibited reduced vision in only 1 eye, with simulated reduced vision in the contralateral eye (exaggerators). Financial motivation was noted in 18 patients (9 men). Conclusion: Normal pattern-reversal visually evoked potential parameters with suspected ocular malingering were observed in a 20 patient cohort. This electrophysiological technique appeared to be useful as a measure of visual pathway integrity in this specific population.

OBJECTIVE: Bardet-Biedl syndrome is a genetic, multisystem disorder that causes severe visual impairment. This condition is characterized by retinal dystrophy, obesity, digit anomalies, renal disease, and hypogonadism. The purpose of this study was to analyze visual acuity and full-field electroretinogram findings in patients with the Bardet-Biedl syndrome phenotype. METHODS: The visual acuity of a group of 23 patients (15 males) with ages ranging from 6-36 years (mean = 15.8±6.4; median = 14.7) was assessed. Retinal function was evaluated by full-field electroretinography, and dark-adapted thresholds were assessed. RESULTS: Visual acuity in the better-seeing eye was 20/40 or better in 5 patients (21.7%), 20/50-20/150 in 13 (56.5%) patients, 20/200-20/400 in 2 (8.7%) patients and worse than 20/400 in one (4.3%) patient. The mean acuity in the better-seeing eye was 0.7±0.6 logMAR (20/100, Snellen equivalent). Scotopic rod and maximal responses were nondetectable in 21 (91.3%) patients, and cone responses were non-detectable in 15 (65.2%) patients. Elevated darkadapted visual thresholds were observed in all 19 patients who were able to be assessed, with 10 (52.6%) patients having thresholds greater than 30 dB. CONCLUSIONS: In a relatively young cohort of patients with Bardet-Biedl syndrome, only 21% had 20/40 or better vision. ERG scotopic responses were absent in the majority of cases, with cone responses being observed in less than half of cases. These findings showed the early deleterious effects in retinal function and visual acuity caused by this condition.