Universidade Federal de São Paulo/Escola Paulista de Medicina, Departamento de Oftalmologia, Brazil.
Clinics (Sao Paulo). 2012;67(2):145-9. doi: 10.6061/clinics/2012(02)09.
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.
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.
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 dark-adapted 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.
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.
Bardet-Biedl 综合征是一种遗传的多系统疾病，可导致严重的视力损害。这种疾病的特征是视网膜营养不良、肥胖、指（趾）畸形、肾脏疾病和性腺功能减退。本研究的目的是分析 Bardet-Biedl 综合征表型患者的视力和全视野视网膜电图检查结果。
评估了一组 23 名年龄在 6-36 岁（平均年龄=15.8±6.4；中位数=14.7）的患者的视力。通过全视野视网膜电图评估视网膜功能，并评估暗适应阈值。
在视力较好的眼中，5 名患者（21.7%）视力为 20/40 或更好，13 名患者（56.5%）视力为 20/50-20/150，2 名患者（8.7%）视力为 20/200-20/400，1 名患者（4.3%）视力差于 20/400。视力较好的眼睛的平均视力为 0.7±0.6 logMAR（20/100，Snellen 等效）。21 名患者（91.3%）的暗适应杆状和最大反应均无法检测，15 名患者（65.2%）的视锥反应无法检测。19 名可评估的患者均观察到暗适应阈值升高，其中 10 名患者（52.6%）的阈值大于 30dB。
在一组相对年轻的 Bardet-Biedl 综合征患者中，只有 21%的患者视力达到 20/40 或更好。大多数病例的 ERG 暗适应反应缺失，不到一半的病例观察到视锥反应。这些发现表明，该疾病对视网膜功能和视力造成了早期的有害影响。
