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We report a case of Bardet-Biedl syndrome (BBS) complicated by bilateral Coats-like exudative vasculopathy with exudative retinal detachment and neovascular glaucoma (NVG). A 10-year-old boy noticed decreased visual acuity and was referred to our clinic. He had a history of retinitis pigmentosa, re...
Ciliopathies comprise a spectrum of disorders involving mutations in over 150 genes affecting the primary cilium, with retinal degeneration as a prominent feature driven by concomitant developmental and maturation defects in photoreceptors and the retinal pigment epithelium (RPE). Current single-gen...
Eugenia Martínez Vallejo (1674-1699), famously portrayed by Juan Carreño de Miranda at the court of King Carlos II of Spain, has long been considered a historical example of Prader-Willi syndrome (PWS). More than 20 publications have supported this diagnosis based on her severe obesity, fa...
Esophageal squamous cell carcinoma (ESCC) remains a highly lethal malignancy, and reliable biomarkers for predicting metastasis and prognosis are urgently needed. Through comprehensive transcriptomic profiling, we identified Bardet-Biedl syndrome 5 (BBS5) as a potential biomarker of clinical signifi...
Advances in research enable precision medicine for rare metabolic diseases. The approval of therapies as melanocortin-4 receptor (MC4R) agonists for the treatment of hyperphagia and obesity in monogenic disorders (POMC, PCSK1, and LEPR deficiencies) and Bardet-Biedl syndrome (BBS), affecting fewer t...
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by clinical and genetic heterogeneity. Data on the prevalence of clinical manifestations and comorbidities in BBS, particularly in pediatric patients, are limited. This study aimed to assess the prevalence and various m...
Bardet-Biedl syndrome (BBS) carries early cardiometabolic risk, yet pediatric screening is complicated by growth and puberty. The metabolic syndrome (MetS) z-score provides a continuous benchmark for clustered risk. The single-point insulin sensitivity estimator (SPISE), based on body mass index (BM...
Bardet-Biedl syndrome (BBS) is a rare ciliopathy characterized by early-onset obesity and multisystem endocrine dysfunction. The melanocortin-4 receptor (MC4R) agonist setmelanotide is approved for hyperphagia-related obesity in BBS, but its endocrine effects remain incompletely understood. In this...
Obesity is increasingly being recognized as a heterogeneous condition with strong genetic underpinnings. Monogenic obesity, caused by single-gene mutations, primarily affects the leptin-melanocortin pathway, which regulates hunger and satiety. Mutations in genes, such as LEP, LEPR, POMC, PCSK1, and...
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Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive genetic disorder with multi-systemic symptoms, including polydactyly, obesity, renal anomalies, retinal dystrophy, and cognitive impairment. Our study reported a previously unreported BBS5 homozygous variant in a Chinese patient with BBS fro...
IFT172 is a core component of intraflagellar transport complex B (IFT-B), and pathogenic IFT172 variants disrupt ciliary transport, receptor localization, and tissue-specific signaling. This review summarizes evidence linking IFT172 dysfunction to neurological, retinal, skeletal, renal, and syndromi...