BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome

Abstract

It is important to monitor patients with an early diagnosis of mild BBS phenotypes for possible life-threatening conditions.

Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families

“…Furthermore, since heterozygotes are generally younger, it would be expected that nowadays more thorough clinical examinations are being carried out, which could bring to light earlier detailed anomalies. On the other hand, we found several homozygotes with cataracts, as has been reported in a group of patients with retinitis pigmentosa (frequency of 50%),29 and nystagmus, also documented by Estrada-Cuzcano et al 29 in three patients with BBS1 . Remarkably, we observed a considerable frequency of dyschromatopsia in homozygotes (50%; 8/16), not previously reported in the literature.…”

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

“…variant. In line with previous studies, 3/5 non-syndromic patients carried disease-causing variants in the BBS1 gene, all homozygous for BBS1 c.1169T>G;p.(M390R) [ 58 , 59 ]. The fifth patient who appeared non-syndromic was heterozygous for two variants in BBS4 c.883C>T;p.(R295*) and c.1107-10_-7delTCTG;p.(?).…”

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

“…Mutations in these genes were known to cause syndromes that are characterised by visual impairment and other systemic features 70–72. It was also reported in some cases that these genes were associated with ‘LCA-like’ or ‘RP-like’ phenotypes without defects in other organs 60 62 73. In our study, revisiting these patients confirmed their severe retinal degenerations without other syndromic features (see online supplementary table S1).…”