We hereby report two cases of BBS who presented to the Department of Ophthalmology with slightly variable presentation.
Case-1An eight-year-old girl presented with the chief complaint of diminution of vision in both eyes at night since one year (as told by father). Diminution of night vision was progressive in nature. She had history of operation in her feet due to some congenital deformity. Although enrolled in school, her IQ was much lower than others of the same age group. She had diminished hearing. Her visual acuity at presentation was 6/12 in both eyes on Snellen's chart. There was no familial history of similar symptoms and her parents were not consanguineous. Systemic examination revealed truncal obesity to be present, with polydactyly and brachydactyly involving both hands and feet. Dental malocclusion was also present [Table/ Fig-1]. On ocular slit lamp examination, anterior segment was normal. Fundus examination by indirect ophthalmoscope revealed bilateral diffuse retinal dystrophy, arteriolar attenuation, disc pallor and absence of any pigments [Table/ Fig-1]. Electroretinogram showed depressed rod function. Bilateral tympanic membrane was intact on otoscopic examination. Tuning fork test pointed towards bilateral sensori-neural hearing loss which was confirmed by Brainstem Evoked Response Audiometry (BERA). BERA revealed that an identifiable wave V was obtained at 75 dBnHL in both ears with latencies of 5.64 ms in right ear and 5.56 ms in left ear at 75 dBnHL, thus confirming bilateral moderate to moderately severe sensori-neural hearing loss to be present [Table/ Fig-2]. Her social quotient was much lower than her peers. Hypogonadism was not evident on USG of abdomen. There was no evidence of paraparesis or muscle weakness. The diagnosis of BBS with retinitis pigmentosa sine pigmento was made from the above findings. The parents were explained about the nature of the disease, poor visual prognosis and a course of vitamin A (15000 IU of Retinol palmitate) was prescribed for a duration of 30 days. The patient was then referred to the Department of Cardiology and Nephrology to exclude the associated anomalies but the parents refused further evaluation and didn't come for follow up.
Case-2A seven-year-old female child presented with similar complaints of decreased vision at night since one year, which was progressive along with polydactyly and brachydactyly involving hand and left foot. She had been operated in her left hand for the same [Table /Fig-3]. Additionally she had sero-sanguinous ear discharge for last 15 days and was congenitally mute. Visual acuity was 6/9 in both eyes on Snellen's chart. Examination of the fundus revealed diffuse retinal Keywords: Hearing loss, Postaxial polydactyly, Rod-cone dystrophy, Serous otitis media
AbSTRACTBardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder characterized primarily by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. We present two cases of this syndrome, both female...
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.