Electrophysiological and Eye-Movement Abnormalities in Children With the Bardet-Biedl Syndrome

Lavy, Timothy; Harris, Christopher M.; Shawkat, Fatima; Thompson, Dorothy; Taylor, David; Kriss, A.

doi:10.3928/0191-3913-19951101-08

Cited by 22 publications

(3 citation statements)

References 14 publications

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“…The VEP response, on the other hand, was reduced in about half of the recordings. These results are in agreement with previous studies [ 47 , 48 , 49 , 50 ]. The visual field could not be measured accurately in around half of the patients due to inadequate fixation and nystagmus.…”

Section: Discussionsupporting

confidence: 94%

Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort

Nasser

Kohl

Kurtenbach

et al. 2022

Genes

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The aim of this study was to characterize the ophthalmic and genetic features of Bardet Biedl (BBS) syndrome in a cohort of patients from a German specialized ophthalmic care center. Sixty-one patients, aged 5–56 years, underwent a detailed ophthalmic examination including visual acuity and color vision testing, electroretinography (ERG), visually evoked potential recording (VEP), fundus examination, and spectral domain optical coherence tomography (SD-OCT). Adaptive optics flood illumination ophthalmoscopy was performed in five patients. All patients had received diagnostic genetic testing and were selected upon the presence of apparent biallelic variants in known BBS-associated genes. All patients had retinal dystrophy with morphologic changes of the retina. Visual acuity decreased from ~0.2 (decimal) at age 5 to blindness 0 at 50 years. Visual field examination could be performed in only half of the patients and showed a concentric constriction with remaining islands of function in the periphery. ERG recordings were mostly extinguished whereas VEP recordings were reduced in about half of the patients. The cohort of patients showed 51 different likely biallelic mutations—of which 11 are novel—in 12 different BBS-associated genes. The most common associated genes were BBS10 (32.8%) and BBS1 (24.6%), and by far the most commonly observed variants were BBS10 c.271dup;p.C91Lfs*5 (21 alleles) and BBS1 c.1169T>G;p.M390R (18 alleles). The phenotype associated with the different BBS-associated genes and genotypes in our cohort is heterogeneous, with diverse features without genotype–phenotype correlation. The results confirm and expand our knowledge of this rare disease.

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Section: Discussionsupporting

confidence: 94%

Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort

Nasser

Kohl

Kurtenbach

et al. 2022

Genes

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“…Nystagmus is the most common manifestation of oculomotor signs. An oculomotricity abnormality exists in 64% of cases after registration of optocinetic nystagmus and oculo-vestibular reflex without any clinically suspected abnormalities [11]. A COGAN oculomotrice apraxia [12] has also JOJ Ophthalmology been described.…”

Section: Discussionmentioning

confidence: 99%

Bardet Biedl Syndrome: About 3 Cases

Pierre

Abou²,

Aissatou³

et al. 2022

JOJO

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Aim: To report 3 cases of Barded Biedl syndromes (BBS) with their clinical characteristics ophthalmic and therapeutic aspects. Observations:We report 3 cases of children with a BBS. It was a descriptive and analytical study. The average age was 14 years. They were 2 boys and one girl. All the patients had an eye examination, a general pediatric examination and paraclinical exams. According to BEALES criteria, they all presented a BBS. The treatment was: diet advice; insulin therapy; corrective lenses; vitamin therapy A and E; renal protection, clinical and biological monitoring especially renal, ophthalmological and blood sugar monitoring. A child (case 3) died after 18 days in hospital of renal failure. Discussion & Conclusion:BBS is a rare genetic disease. It is a part of a large group of syndromes called ciliopathies. The ophthalmological involvement determines the functional prognosis and the renal impairment, affects the vital prognosis. An early and correct treatment is necessary. The genetic counselling plays an important role in the prevention of this disease.

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“…The GOSH‐ERG protocol has been used successfully since its inception to evaluate retinal function in infants and children and to provide long‐term monitoring and phenotyping of disease (Jacobs, et al., 1992; Kriss & Russell‐Eggitt, 1992; Kriss, 1994; Lavy, et al., 1995; Thompson, et al., 2013). Although some studies have used both the GOSH‐ERG and ISCEV‐ERG protocols in children (Kurent et al., 2015), there has not been to date an empirical comparison with internationally accepted ISCEV‐ERG standards, to demonstrate the relative diagnostic accuracy of these measures.…”

Section: Discussionmentioning

confidence: 99%

An alternative electroretinography protocol for children: a study of diagnostic agreement and accuracy relative to ISCEV standard electroretinograms

Marmoy

Moinuddin

Thompson

2021

Acta Ophthalmologica

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Purpose To assess the diagnostic accuracy and agreement between a paediatric electroretinography protocol used at Great Ormond Street Hospital (GOSH‐ERG) and the ‘gold standard’ international protocol (ISCEV‐ERG) in health and disease. Methods Patient databases between 2010 and 2020 were screened to identify children with an ISCEV‐ERG recorded within four years of a GOSH‐ERG. Electroretinogram (ERG) component peak times and amplitudes were re‐measured, and data were analysed in terms of absolute abnormality and proportional deviation from respective reference ranges. Abnormality was defined by the retinal system affected and by individual ERG a‐ and b‐wave component analysis. Results A total of 59 patients were included: 38 patients had retinal disease defined by an abnormal ISCEV‐ERG and 21 had normal ISCEV‐ERGs. When absolute abnormality was defined by combined retinal systems, the GOSH‐ERG showed an excellent overall sensitivity of 95% (accuracy 86%). Individual retinal systems showed good–excellent sensitivity (67%–100%) and specificity (68%–97%). Electroretinogram (ERG) component sensitivities ranged between 60% and 97% and specificities between 79% and 97% dependent upon the protocol step. The proportional relationship appeared mostly linear between protocols. Electroretinogram (ERG) morphology was comparable for both protocols in a range of retinal diseases including those with pathognomonic ERGs. Conclusion We demonstrate the high diagnostic accuracy of a paediatric ERG protocol (GOSH‐ERG) relative to ISCEV standard ERGs. The close proportional deviation and similar waveform morphology indicate ERGs from each protocol are similarly affected in disease. This encourages the use of the GOSH‐ERG protocol in the screening, diagnosis and monitoring of retinal disease in children who are unable to comply with the rigorous ISCEV‐ERG protocol.

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Electrophysiological and Eye-Movement Abnormalities in Children With the Bardet-Biedl Syndrome

Cited by 22 publications

References 14 publications

Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort

Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort

Bardet Biedl Syndrome: About 3 Cases

An alternative electroretinography protocol for children: a study of diagnostic agreement and accuracy relative to ISCEV standard electroretinograms

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