Nytagmu mimicking pamu nutan a the preenting ign of Bardet-Biedl yndrome

PURPOE: To invetigate the nytagmu of twin brother preenting with pamu nutan later diagnoed a Bardet-Biedl yndrome. METHOD: The twin preented at the age of 14 month with a preumed diagnoi of pamu nutan. They were followed clinically and with quantitative electro-oculographic eye movement recording until the age of 6 year. REULT: Polydactyly, truncal obeity, mild delay in cognitive development, viual acuity of 20/100, attenuated retinal veel and pale dik, and bilaterally almot extinguihed cotopic and photopic electroretinogram were found in both brother. They had fine, fat, pendular, diconjugate, intermittent, oblique nytagmu. No head nodding wa oberved. CONCLUION: A decribed in patient with other retinal dieae uch a achromatopia and congenital tationary night blindne, nytagmu of patient with Bardet-Biedl yndrome can mimic pamu nutan