The ocular phenotype of the Bardet-Biedl syndrome Comparison to non-syndromic retinitis pigmentosa

Iannaccone, Alessandro; G, De Propris; Roncati, S; Rispoli, Eduardo; G, Del Porto; Mr, Pannarale

doi:10.3109/13816819709057879

Cited by 33 publications

(18 citation statements)

References 35 publications

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“…The optic disks and retinal vessels are normal in infancy; disk pallor and attenuated retinal vessels develop with age. Pigmentary changes are observed in the peripheral fundus (19,20). Night blindness usually manifests by eight years of age and progresses to complete blindness by 16-20 years of age (7).…”

Section: Introductionmentioning

confidence: 99%

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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Section: Introductionmentioning

confidence: 99%

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

Berezovsky¹,

Rocha²,

Sacai³

et al. 2012

Clinics

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“…In children ocular features include severe reduction of visual acuity, constantly altered color vision, a high incidence of strabismus and nystagmus, atrophic changes of the optic disc, and absence or minimal pigmentary retinal changes [16]. The abnormal eye movements were shown to be correlated with increasing age, and may be connected with a progressive neurological disease or loss of vision [2,17].…”

Section: Discussionmentioning

confidence: 99%

“…Since our patient did not have any positive neurological finding on physical examination and the results of electroencephalography and magnetic resonance imaging studies were normal, her nystagmus may be related to decreased visual acuity. ERG shows early loss of signals from both rods and cones in the majority of BBS patients, whereas amplitudes are reduced in all patients [16][17][18]. ERG must be performed when the diagnosis of BBS is suspected but not confirmed by the fundoscopic examination, especially in young children.…”

Section: Discussionmentioning

confidence: 99%

Renal vascular abnormalities in Bardet-Biedl syndrome

Baskın

Balkancı

Çekirge

et al. 1999

Pediatric Nephrology

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Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder. Specific diagnostic criteria for BBS have now been defined. At least four of the five cardinal signs of mental retardation, obesity, hypogenitalism in men, distal limb anomalies, and progressive tapetoretinal degeneration of the retina are required for the diagnosis. Renal involvement has been described as a sixth cardinal feature. Chronic renal failure occurs in 30%-60% of patients. Hypertension has been noted in 50%-66% of cases. Renal abnormalities reflect a defect in maturation of the kidneys. We present a patient with BBS who had bilateral microaneurysms and occlusions in renal arterioles.

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“…Other forms of retinal dystrophies have also been reported, which include cone-rod dystrophy, atrophic maculopathy, and severe global retinal degeneration. 23,[34][35][36] Profound ERG abnormalities can be detected as early as age 3 with progressive deterioration of photoreceptor responses. Visual loss can be severe and legal blindness often occurs within the second to third decade of life.…”

Section: Systemic Ciliopathiesmentioning

confidence: 99%

Systemic Diseases Associated with Retinal Dystrophies

Werdich

Place

Pierce

2014

Seminars in Ophthalmology

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Inherited retinal degeneration (IRD) may occur in isolation or as part of a multi-systemic condition. Ocular manifestations may be the presenting symptom of a syndromic disease and can include retinitis pigmentosa, cone-rod dystrophy, or maculopathy. Alternatively, patients affected with syndromic disease may already have other systemic manifestations at the time retinal disease is diagnosed. Some of these systemic diseases can cause significant morbidity. Here, we review several of these syndromic IRDs and their underlying genetic causes. Early recognition and referral for systemic evaluation and surveillance may lead to early intervention and an improved outcome. Obtaining a molecular diagnosis can be beneficial in securing a definitive diagnosis, especially in cases with atypical presentations. A genetic diagnosis may also be informative with regard to prognosis and potential therapies. Effective management and rehabilitation for patients with syndromic retinal dystrophy requires a comprehensive genetic-based team approach involving patients, family members, ophthalmologists, primary care physicians, and geneticists.

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The ocular phenotype of the Bardet-Biedl syndrome Comparison to non-syndromic retinitis pigmentosa

Cited by 33 publications

References 35 publications

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

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

Renal vascular abnormalities in Bardet-Biedl syndrome

Systemic Diseases Associated with Retinal Dystrophies

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