Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review

Andrade, Luís Jesuíno de Oliveira; Andrade, Rafael; França, Caroline Santos; Bittencourt, Alcina Maria Vinhaes

doi:10.1590/s0004-27492009000500019

Cited by 18 publications

(13 citation statements)

References 8 publications

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“…Retinal dystrophy also called rod-cone dystrophy leading to blindness is present in 90 to 100% (14,15) especially when the electroretinogram is systematically done, but typical retinal dystrophy, also called retinis pigmentosa, as observed in our case and in Andrade's (14) is exceptional. Its prognosis is very poor as there is still no preventive or curative treatment.…”

Section: Discussionmentioning

confidence: 52%

Bardet Biedl Syndrome with Typical Retinitis Pigmentosa and Hypergonadotrophic Hypogonadism

Chentli¹

2011

Acta Endo (Buc)

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Bardet Biedl syndrome (BBS) is a rare autosomal recessive disease, characterized by clinical and genetic heterogeneity. Many genes are involved. BBS seems to be different from Lawrence Moon BBS, although they share some clinical symptoms. The main clinical signs are obesity, pigmentary retinopathy, kidney malformations, and hypogenitalism.Our aim is to report a case with typical retinis pigmentosa, hypergonadotrophic hypogonadism and cerebellum cyst.Case report. A man aged 18 was referred for obesity and blindness. His family history was marked by obesity and diabetes mellitus type II. His medical history began very soon, as he was born with polydactyly, then he became obese and had difficulty to learn and to see. His blindness was progressive, and his puberty was delayed. Clinical and biological exams showed: severe android obesity (BMI = 40kg/m², waist circumference = 130cm), pigmentary retinopathy, small testes with high FSH = 17 mU/mL (1-8), and normal LH = 6.13 mU/mL (0.6-12)], empty sellae, cerebellum cyst, renal malformations, and signs of chronic infections. He did not have any spasticity or ataxia. Genetic study was not done. Conclusion.In this case, all features argued for typical BBS, except for testicular insufficiency which is classically described as hypogonadotrophic. Infections should be treated vigorously to avoid renal insufficiency.

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Section: Discussionmentioning

confidence: 52%

Bardet Biedl Syndrome with Typical Retinitis Pigmentosa and Hypergonadotrophic Hypogonadism

Chentli¹

2011

Acta Endo (Buc)

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“…The clinical traits underlying these disorders disturb from the macular region (central vision) to the outlying retinal area (peripheral vision). In addition, at least 30 different syndromes (such as Usher and Bardet-Biedl) share some of these phenotypic alterations [3], [4]. On the genetic side, more than 5000 mutations in almost 200 genes are causative of retinal dystrophies so far [1], [5], [6].…”

Section: Introductionmentioning

confidence: 99%

Combined Genetic and High-Throughput Strategies for Molecular Diagnosis of Inherited Retinal Dystrophies

et al. 2014

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Most diagnostic laboratories are confronted with the increasing demand for molecular diagnosis from patients and families and the ever-increasing genetic heterogeneity of visual disorders. Concerning Retinal Dystrophies (RD), almost 200 causative genes have been reported to date, and most families carry private mutations. We aimed to approach RD genetic diagnosis using all the available genetic information to prioritize candidates for mutational screening, and then restrict the number of cases to be analyzed by massive sequencing. We constructed and optimized a comprehensive cosegregation RD-chip based on SNP genotyping and haplotype analysis. The RD-chip allows to genotype 768 selected SNPs (closely linked to 100 RD causative genes) in a single cost-, time-effective step. Full diagnosis was attained in 17/36 Spanish pedigrees, yielding 12 new and 12 previously reported mutations in 9 RD genes. The most frequently mutated genes were USH2A and CRB1. Notably, RD3–up to now only associated to Leber Congenital Amaurosis– was identified as causative of Retinitis Pigmentosa. The main assets of the RD-chip are: i) the robustness of the genetic information that underscores the most probable candidates, ii) the invaluable clues in cases of shared haplotypes, which are indicative of a common founder effect, and iii) the detection of extended haplotypes over closely mapping genes, which substantiates cosegregation, although the assumptions in which the genetic analysis is based could exceptionally lead astray. The combination of the genetic approach with whole exome sequencing (WES) greatly increases the diagnosis efficiency, and revealed novel mutations in USH2A and GUCY2D. Overall, the RD-chip diagnosis efficiency ranges from 16% in dominant, to 80% in consanguineous recessive pedigrees, with an average of 47%, well within the upper range of massive sequencing approaches, highlighting the validity of this time- and cost-effective approach whilst high-throughput methodologies become amenable for routine diagnosis in medium sized labs.

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“…Its incidence has been estimated to be 1 in 150.000 to 160.000 individuals in North America and European populations, but is much higher in some populations with a high level of consanguinity. [2] The diagnosis of BBS is established by clinical findings. Renal failure is the major cause of morbidity and early mortality in BBS.…”

Section: Discussionmentioning

confidence: 99%

Bardet-Biedl syndrome and subaortic membrane: co-occurrence of two rare conditions

Arık

Tekin²,

Türkoğlu³

et al. 2013

Arch Turk Soc Cardiol

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Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder with multiple morphological abnormalities. Clinical diagnosis is based on the presence of central obesity, polydactyly, rod-cone dystrophy, varying degrees of learning disability, hypogonadism (in men) and renal abnormalities. Cardiac involvement is a rare condition. We present a 28-year-old male with complaints of progressive dyspnea and palpitation diagnosed as BBS and subaortic discrete membrane. Careful echocardiographic evaluation of patients with BBS, such as in this case report, may allow us to discover novel cardiac abnormalities in this patient population.

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Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review

Cited by 18 publications

References 8 publications

Bardet Biedl Syndrome with Typical Retinitis Pigmentosa and Hypergonadotrophic Hypogonadism

Bardet Biedl Syndrome with Typical Retinitis Pigmentosa and Hypergonadotrophic Hypogonadism

Combined Genetic and High-Throughput Strategies for Molecular Diagnosis of Inherited Retinal Dystrophies

Bardet-Biedl syndrome and subaortic membrane: co-occurrence of two rare conditions

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