Visual acuity and retinal function in patients with Bardet-Biedl syndrome

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 percent), 20/50-20/150 in 13 (56.5 percent) patients, 20/200-20/400 in 2 (8.7 percent) patients and worse than 20/400 in one (4.3 percent) 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 percent) patients, and cone responses were non-detectable in 15 (65.2 percent) patients. Elevated darkadapted visual thresholds were observed in all 19 patients who were able to be assessed, with 10 (52.6 percent) patients having thresholds greater than 30 dB. CONCLUSIONS: In a relatively young cohort of patients with Bardet-Biedl syndrome, only 21 percent 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.

Discriminação de cores em profissionais da área técnica de empresa de material fotográfico / Color vision discrimination in employees of a photographic laboratory

OBJETIVO: Avaliar a discriminação de cores em profissionais da área técnica de empresa de material fotográfico. MÉTODOS: Foram incluídos 47 profissionais (37 homens) com idades variando de 18 a 41 anos (média 27,2 ± 5,6 anos), alocados em área técnica especializada em calibração e assistência de máquinas de revelação de fotos em 1 hora. O tempo de trabalho nesta atividade variou de 1 mês a 18 anos. O grupo controle constituiu de 22 voluntários (5 homens) com idades variando de 18 a 55 anos (Média 25,0 ± 10,6 anos). A discriminação de cores foi avaliada com o teste Farnsworth-Munsell 100-Hue. Os critérios de inclusão para os dois grupos foram: acuidade visual com a melhor correção óptica e > 0,1 logMAR, fundo de olho normal, ausência de doenças hereditárias, sintomas visuais ou cirurgia ocular prévia. RESULTADOS: Vinte e quatro (51 por cento) profissionais do laboratório fotográfico apresentaram discriminação superior, comparados a 18 por cento dos voluntários. Vinte (42 por cento) apresentaram discriminação de cores dentro da média e 3 (7 por cento) apresentaram discriminação inferior. O índice de erros foi estatisticamente menor no grupo de profissionais quando comparado ao grupo controle (T=968.000, P=0,011). Não houve correlação entre o tempo de atividade na profissão e os resultados da discriminação de cores. CONCLUSÕES: Os profissionais da área técnica da empresa fotográfica mostraram discriminação de cores superior à do grupo controle.

PURPOSE: The objective of this study was to evaluate chromatic discrimination in employees of a photographic laboratory. METHODS: A total of 47 professional employees of the technical area devoted to calibration and technical assistance for one-hour photo machines (37 men), aged 18 to 41 years (mean of 27.2 ± 5.6 years). The period working in this function ranged from one month to 18 years. Twenty-two normal volunteers (5 men) aged 18-55 years (mean of 25.0 ± 10.6 years) were tested as a control group. Color discrimination was evaluated by the Farnsworth-Munsell 100-Hue test. The inclusion criteria were visual acuity > 0.1 logMAR, normal fundus, absence of hereditary eye disease, absence of visual symptoms or ocular surgery. RESULTS: Twenty-four people (51 percent) of the professional group presented superior color discrimination when compared to 18 percent of the control group. Twenty people (42 percent) presented average discrimination and 3 (7 percent) presented inferior discrimination. Color vision discrimination was statistically better in professionals when compared to controls (T=968.000, P=0.011). There was no correlation between the period working in the function and color discrimination. CONCLUSIONS: Technical professionals working in a photographic laboratory showed better color discrimination than controls.