Retinal ciliopathy due to mutation in Bardet-Biedl gene

Retinal ciliopathy due to mutation in Bardet-Biedl syndrome (BBS) genes refers to a group of inherited retinal dystrophies caused by pathogenic variants in genes associated with the Bardet-Biedl syndrome complex. These genes encode proteins critical for the structure and function of primary cilia, which are essential for photoreceptor cell development and maintenance in the retina. When mutations in BBS genes primarily or exclusively affect the retina without causing the full syndromic features of Bardet-Biedl syndrome (such as obesity, polydactyly, renal anomalies, and cognitive impairment), the condition is classified as a non-syndromic retinal ciliopathy. The primary body system affected is the visual system. Patients typically experience progressive rod-cone dystrophy (retinitis pigmentosa), which manifests as night blindness, progressive loss of peripheral vision, and eventual central vision impairment. The condition may begin in childhood or adolescence with difficulty seeing in dim light, followed by gradual constriction of the visual field. Over time, visual acuity deteriorates, and many patients develop significant visual disability. Additional ocular features may include posterior subcapsular cataracts and macular changes. Currently, there is no definitive cure for retinal ciliopathy due to BBS gene mutations. Management is primarily supportive and includes regular ophthalmologic monitoring, low-vision aids, and orientation and mobility training. Genetic counseling is recommended for affected families. Gene therapy approaches are under active investigation for various forms of inherited retinal dystrophies, and some patients may be eligible for clinical trials. Accurate molecular diagnosis through genetic testing is important for prognosis, family planning, and potential eligibility for emerging targeted therapies.

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