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Spaggiari, Enrico; Salati, R.; Nicolini, Philippe; Borgatti, Renato; Pozzoli, Uberto; Polenghi, F.

doi:10.1023/a:1026560721525

Cited by 14 publications

(6 citation statements)

References 25 publications

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“…These results are consistent with previously reported findings in both adults and pediatric BBS patients (20,21). However, other studies have described a slight female predominance (5).…”

Section: Discussionsupporting

confidence: 94%

“…In six patients with strabismus, there was a fair distribution between esotropias and exotropias. Similar findings have been described in young BBS patients presenting nystagmus, but a tendency to exotropia was not found in our cohort (20,21). …”

Section: Discussionsupporting

confidence: 92%

“…However, other reports have shown decreased vision in the first decades of life, as found in our studied sample (5,21). Good BCVA in the better-seeing eye (≥20/40) was found in only five patients (21.7%) in our study.…”

Section: Discussioncontrasting

confidence: 55%

“…Therefore, the diagnosis is still made using clinical data (10,21). Moreover, BBS may be characterized by profound inter- and intrafamilial clinical variability, which may be partially explained by the presence of second-site modifiers (9).…”

Section: Introductionmentioning

confidence: 99%

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

Berezovsky¹,

Rocha²,

Sacai³

et al. 2012

Clinics

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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 non-detectable 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.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.

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“…These results are consistent with previously reported findings in both adults and pediatric BBS patients (20,21). However, other studies have described a slight female predominance (5).…”

Section: Discussionsupporting

confidence: 94%

Section: Discussionsupporting

confidence: 92%

Section: Discussioncontrasting

confidence: 55%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

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

Berezovsky¹,

Rocha²,

Sacai³

et al. 2012

Clinics

View full text Add to dashboard Cite

show abstract

“…Retinitis pigmentosa in LMBB syndrome is known to present early in the life and affecting males similar to our study. [ 11 20 21 ] Affection of males predominantly in an autosomal recessive pattern of inheritance is to be studied further; the male and female number may also vary due to more male child presenting to the hospital.…”

Section: Discussionmentioning

confidence: 99%

Retinitis pigmentosa in Laurence-Moon-Bardet-Biedl syndrome in India: Electronic medical records driven big data analytics: Report II

Parameswarappa¹,

Das²,

Thakur

et al. 2022

Indian Journal of Ophthalmology

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Purpose: To describe the clinical presentation and demographic distribution of retinitis pigmentosa (RP) in Laurence–Moon–Bardet–Biedl (LMBB) syndrome patients. Methods: This is a cross-sectional observational hospital-based study wherein 244 patients with RP in LMBB syndrome presenting to our hospital network between March 2012 and October 2020 were included. An electronic medical record database was used for data retrieval. Results: There were 244 patients in total, with a hospital-based prevalence rate of 0.010% or 1000/100,000 population. The mean and median age of patients was 15.22 ± 7.56 and 14 (IQR: 10–18.5) years, respectively, with the majority being in the age group of 11–20 years (133/244 patients; 54.50%). Males were more commonly affected (164 patients; 67.21%), and the majority (182 patients; 74.59%) were students. All 244 patients (100%) complained of defective central vision at presentation. More than one-fourth of the patients had severe visual impairment to blindness at presentation. Prominent retinal feature at presentation was diffuse or widespread retinal pigment epithelial degeneration in all patients. Conclusion: Patients with RP in LMBB syndrome present mainly in the first to second decade of life with severe visual acuity impairment to blindness early in life. It is important to rule out LMBB syndrome in early-onset RP with central visual acuity impairment. On the contrary, all patients diagnosed or suspected with LMBB syndrome systemic features at physician clinic should also be referred for ophthalmic evaluation, low vision assessment, rehabilitation, and vice versa.

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Retinal Function in Carriers of Bardet-Biedl Syndrome

Cox

Hansen²,

Quinn³

et al. 2003

Arch Ophthalmol

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To test the hypothesis that carriers of Bardet-Biedl syndrome have abnormal rod-mediated responses. Methods: Parents (n = 26) of children with Bardet-Biedl syndrome (BBS), who are obligate carriers of BBS, consented to scotopic, full-field electroretinography (ERG). Responses were recorded over a 4 to 5 log unit range, up to a maximum stimulus of approximately +3.6 log scotopic troland seconds. The parameters of activation of the rod photoresponse, S (sensitivity parameter) and R mp3 (amplitude of the saturated rod response), were derived by fitting a transduction model to the ERG awaves. For the b-wave, the stimulus producing a half maximum response (log) and the saturated amplitude (V max) were determined. The model of the rod photoresponse was subtracted from the intact ERG to demonstrate a corneal positive potential (P 2) , and log k P2 and P 2max were determined. The carriers' ERG responses were compared with those of healthy control subjects (n=26). Main Outcome Measures: Sensitivity (S, log , and log k P2) and saturated amplitude (R mp3 , V max , and P 2max) of receptoral and postreceptoral response components. Results: All parents had decreased P 2 sensitivity, and most (15 [60%] of 26) had decreased b-wave sensitivity. The rod photoresponse sensitivity and the saturated amplitudes of the rod cell response, b-wave and P 2 , did not differ significantly between carriers and controls. Conclusions: Diminished P 2 sensitivity is characteristic of the carriers of BBS. The site of the primary defect in the BBS rod pathway appears to be proximal to the outer segments, most likely before the rod-bipolar cell synapse.

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Cited by 14 publications

References 25 publications

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

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

Retinitis pigmentosa in Laurence-Moon-Bardet-Biedl syndrome in India: Electronic medical records driven big data analytics: Report II

Retinal Function in Carriers of Bardet-Biedl Syndrome

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