Bardet-Biedl Syndrome: A Case Report from Dalal Jamm Hospital in Dakar

Bardet-Biedl Syndrome: A Case Report from Dalal Jamm Hospital in Dakar, Université Cheikh Anta Diop, Senegal

*Corresponding Author: Dr. Aboubacry Sadikh Sow, Bardet-Biedl Syndrome: A Case Report from Dalal Jamm Hospital in Dakar, Université Cheikh Anta Diop, Senegal, Phone: 00221775659760, Email: [email protected]

Received Date: May 30, 2026

Published Date: June 29, 2026

Citation: Sow AS, et al. (2026). Bardet-Biedl Syndrome: A Case Report from Dalal Jamm Hospital in Dakar. Mathews J Ophthalmol. 11(1):39.

Copyrights: Sow AS, et al. © (2026).

ABSTRACT

Introduction: Retinitis pigmentosa is an inherited retinal degeneration characterized by dysfunction of the retinal pigment epithelium and loss of photoreceptors, associated with pigment deposits visible on fundus examination. It may occur in isolation or in association with extraocular manifestations. Objective: After the informed and signed consent of the patient's parents, we report a Bardet Biedl Syndrom (BBS) case, recalling the epidemiological, clinical aspects, particularly ophthalmological and therapeutic aspects. Observation: The patient was a 15-year-old girl presented with bilateral, progressive myopia and night blindness. Her medical history included psychomotor developmental delay, polyuria, enuresis, and surgery for hexadactyly. The ophthalmological examination revealed: a corrected visual acuity of 3/10 in the right eye and 2/10 in the left eye, strabismus, rotatory nystagmus, and epicanthus. Funduscopy showed diffuse retinopathy. On general examination, the patient weighed 80 kg, had a BMI of 36 kg/m², exhibited slow movements and head jerks, and slowed thought processes. The visual field, the visual evoked potential, and the electroretinogram were significantly impaired. Abdominal and pelvic ultrasound was not performed and karyotyping was not available. The patient met 5 major criteria confirming the diagnosis of BBS. Conclusion: BBS is an inherited ciliopathy characterized by multiorgan involvement and intellectual disability. Its management is multidisciplinary, and the visual prognosis is very poor. It is important to emphasize the importance of ophthalmological examinations in newborns with a family history of ciliopathy and to conduct regular monitoring, genetic counseling for families of patients with BBS and a pediatric assessment is necessary for all cases of retinitis pigmentosa.

Keywords: Bardet-Biedl Syndrome, Hexadactyly, Pigmentary Retinopathy.