Exploring Evidence-based Therapies for Ocular Manifestations in Bardet–Biedl Syndrome

Abstract

Background: Bardet-Biedl syndrome and Laurence-Moon syndrome are rare autosomal recessive disorders that share a similar clinical phenotype. These syndromes are characterized by progressive features including cone-rod retinal dystrophy, obesity, and hypogonadism in males. Additional clinical manifestations can include learning disabilities, renal abnormalities, and polydactyly. Despite their similarities, Bardet-Biedl syndrome and Laurence-Moon syndrome are distinguished by certain clinical features. Ocular Manifestations in BBS: Ocular involvement in BBS primarily manifests as rod-cone dystrophy, a form of retinal degeneration that leads to progressive blindness. The pathophysiology of retinal degeneration in BBS is linked to ciliary dysfunction, affecting the photoreceptor cells in the retina. Early diagnosis and intervention are critical in preserving vision in affected individuals. Therapeutic Strategies: Current evidence-based therapies for ocular manifestations in BBS focus on genetic therapies, retinal implants, and pharmacological interventions. Gene therapy approaches, including gene replacement and gene editing technologies, show promise in preclinical models, aiming to restore or replace defective proteins involved in retinal function. Additionally, retinal implants, such as the Argus II retinal prosthesis, offer partial restoration of vision in patients with advanced retinal degeneration. Pharmacological treatments, such as retinoid derivatives and anti-inflammatory agents, have shown mixed results in slowing disease progression but are not yet universally effective. Conclusion: While promising, therapeutic options for managing ocular manifestations in BBS are still in the experimental stages. Continued advancements in gene therapy, retinal prostheses, and pharmacological approaches may offer hope for improving the quality of life and preserving vision in individuals with BBS. Further clinical trials and research are essential to validate these therapies and develop effective treatment protocols.