Bardet-biedl syndrome

General: Polydactyly; obesity; cognitive delay; retinal degeneration; nystagmus.

Ocular: 30% to 65% of patients have clinical nystagmus that may mimic spasmus nuta 545e49f ns but either lacks head nodding or is not suppressed by head nodding; retinal degeneration with attenuated retinal vessels and pale optic disks.

Clinical: Nystagmus may be a presenting sign, but patients will have polydactyly, obesity, and motor/cognitive delay.

Gottlob I, et al. Head nodding is compensatory in spasmus nutans. Ophthalmology 1992; 99:1024-l031.

Gottlob I, et al. Signs distinguishing spasmus nutans (with and without central nervous system lesions) from infantile nystagmus. Ophthalmology 1990; 97: 1166-l1 75.

Gottlob I, Helbling A. Nystagmus mimicking spasmus nutans as the presenting sign of Bardet-Biedl syndrome. Am J Ophthalmol 1999; 128:770-772.

Gottlob I, Reinecke RD. Eye and head movements in patients with achromatopsia. Graefes Arch Clin Exp Ophthalmol 1994; 232:392-401.

Gottlob I, Wizov SS, Reinecke RD. Quantitative eye and head movement recordings of retinal disease mimicking spasmus nutans. Am J Ophthalmol 1995; 119:374-376.

Leys MJ, et al. Visual acuities and dark-adapted thresholds of children with Bardet-Biedl syndrome. Am J Ophthalmol 1998; 106:561-569.