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

Berezovsky, Adriana; Rocha, Daniel; Sacai, Paula Yuri; Watanabe, Sung Eun Song; Cavascan, Nívea Nunes; Salomão, Solange Rios

doi:10.6061/clinics/2012(02)09

Cited by 33 publications

(22 citation statements)

References 26 publications

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“…Fundus manifestations include optic disk pallor, bone spicule pigment deposits, thinning of the blood vessels, and retinal osteocyte pigmentation ( Riise et al, 1996 ; Moore et al, 2005 ). Moreover, scotopic rod and maximal responses as well as cone responses are non-detectable in most BBS patients ( Berezovsky et al, 2012 ; Scheidecker et al, 2015 ). A total of 24 causative genes of BBS have thus far been discovered ( Weihbrecht et al, 2017 ; Bölükbaşı et al, 2018 ; Mary et al, 2019 ; Wormser et al, 2019 ).…”

Section: Introductionmentioning

confidence: 99%

Ocular Characteristics of Patients With Bardet–Biedl Syndrome Caused by Pathogenic BBS Gene Variation in a Chinese Cohort

Meng

Long

Ren

et al. 2021

Front. Cell Dev. Biol.

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Bardet–Biedl syndrome (BBS; OMIM 209900) is a rare genetic disease causing damage to multiple organs and affecting patients’ quality of life in late adolescence or early adulthood. In this study, the ocular characteristics including morphology and function, were analyzed in 12 BBS patients from 10 Chinese families by molecular diagnostics. A total of five known and twelve novel variants in four BBS genes (BBS2, 58.33%; BBS4, 8.33%; BBS7, 16.67%; and BBS9, 16.67%) were identified in 10 Chinese families with BBS. All patients had typical phenotypes of retinitis pigmentosa with unrecordable or severely damaged cone and rod responses on full-field flash electroretinography (ffERG). Most of the patients showed unremarkable reactions in pattern visual evoked potential (PVEP) and multifocal electroretinography (mfERG), while their flash visual evoked potentials (FVEP) indicated display residual visual function. Changes in the fundus morphology, including color fundus photography and autofluorescence (AF) imaging, were heterogeneous and not consistent with the patients’ functional tests. Overall, our study expands the variation spectrum of the BBS gene, showing that the ocular characteristics of BBS patients are clinically highly heterogeneous, and demonstrates the usefulness of a combination of the ffERG and FVEP assessments of visual function in the advanced stage of retinopathy in BBS.

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Section: Introductionmentioning

confidence: 99%

Ocular Characteristics of Patients With Bardet–Biedl Syndrome Caused by Pathogenic BBS Gene Variation in a Chinese Cohort

Meng

Long

Ren

et al. 2021

Front. Cell Dev. Biol.

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“…Typically, these patients are characterized by unrecordable responses eventually with elevated dark-adapted thresholds. [47] However, negative ERGs indicating greater inner than outer retinal dysfunction have also been described by Azari et al . They however hypothesize it to be a disease stage rather than primary disease feature with the disease process primarily affecting the photoreceptors, followed by a subsequent effect on the inner retinal function as well of the rod pathway.…”

Section: Clinical Diagnosticsmentioning

confidence: 87%

“…The patients present with a history of night blindness since early childhood. Decreased vision in the first decades of life has been reported in BBS patients[47] with the majority being legally blind (best-corrected visual acuity <6/60) by the second or the third decade of life. The visual impairment in BBS has been consistently early in onset; between 8 and 9 years and 98% of patients suffered complete loss of vision by the third decade.…”

Section: Clinical Manifestations and Molecular Relevancementioning

confidence: 99%

Bardet–Biedl syndrome: Genetics, molecular pathophysiology, and disease management

Priya¹,

Nampoothiri²,

Sen³

et al. 2016

Indian J Ophthalmol

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Primary cilia play a key role in sensory perception and various signaling pathways. Any defect in them leads to group of disorders called ciliopathies, and Bardet–Biedl syndrome (BBS, OMIM 209900) is one among them. The disorder is clinically and genetically heterogeneous, with various primary and secondary clinical manifestations, and shows autosomal recessive inheritance and highly prevalent in inbred/consanguineous populations. The disease mapped to at least twenty different genes (BBS1-BBS20), follow oligogenic inheritance pattern. BBS proteins localizes to the centerosome and regulates the biogenesis and functions of the cilia. In BBS, the functioning of various systemic organs (with ciliated cells) gets deranged and results in systemic manifestations. Certain components of the disease (such as obesity, diabetes, and renal problems) when noticed earlier offer a disease management benefit to the patients. However, the awareness of the disease is comparatively low and most often noticed only after severe vision loss in patients, which is usually in the first decade of the patient's age. In the current review, we have provided the recent updates retrieved from various types of scientific literature through journals, on the genetics, its molecular relevance, and the clinical outcome in BBS. The review in nutshell would provide the basic awareness of the disease that will have an impact in disease management and counseling benefits to the patients and their families.

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“…Early-onset, severe, and progressive retinal dystrophy due to dysfunctional rods and cones is consistently reported. [15] An AR mode of inheritance is usually observed, although oligogenic inheritance has been cited on occasion. [16]…”

Section: Discussionmentioning

confidence: 99%

Congenital hepatic fibrosis and coexistent retinal macular degeneration

Qin²,

Sun³

et al. 2019

Medicine

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Rationale:Congenital hepatic fibrosis (CHF) is an autosomal recessive disease characterized by periportal fibrosis, portal hypertension, and renal cystic disease. Essentially, CHF is a variant of fibrocystic disorder in which liver and kidney are commonly affected. Other frequently associated conditions include Caroli syndrome and polycystic kidney disease. CHF is also a known accompaniment in an array of inherited disorders with multiorgan involvement.Patient concerns:The 20-year-old male patient with declining vision (14 years duration), intermittent gingival bleeding (7 years duration), and abdominal distension (5 years duration), presented with exacerbation of these symptoms during the prior 2 months. The patient had been previously diagnosed with retinal macular degeneration, idiopathic thrombocytopenic purpura, and hepatosplenomegaly.Diagnoses:Liver biopsy showed disordered hepatic acini and fibrous parenchymal banding, indicative of CHF.Interventions:After the treatment of diuresis and liver protectants, the clinical symptoms of the patients were improved. We subsequently recommend chromosomal analysis, although the family refused.Outcomes:Three months after discharge, the patient was followed up by telephone. The patient had obvious abdominal distension and we advised that he should be admitted again. But the family refused.Lessons:CHF is an AR disease resulting in portal hypertension and often associated with renal malformations. CHF is also linked to a number of other disorders, many of which are ciliopathies. Because the clinical manifestations of CHF are nonspecific or lacking, its diagnosis is problematic, relying largely on liver biopsy. Once CHF is identified, physicians are obligated to investigate other organ systems, particularly a search for neuromuscular, retina or renal involvement. This case underscores the value of radiologic imaging, pathologic examination, and genetic testing in successfully diagnosing a rare disease.

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

Cited by 33 publications

References 26 publications

Ocular Characteristics of Patients With Bardet–Biedl Syndrome Caused by Pathogenic BBS Gene Variation in a Chinese Cohort

Ocular Characteristics of Patients With Bardet–Biedl Syndrome Caused by Pathogenic BBS Gene Variation in a Chinese Cohort

Bardet–Biedl syndrome: Genetics, molecular pathophysiology, and disease management

Congenital hepatic fibrosis and coexistent retinal macular degeneration

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