Clinical feature of autoomal dominant congenital nytagmu linked to chromoome 6p12

Purpoe: To decribe the clinical feature of a large pedigree with autoomal dominant congenital nytagmu linked to chromoome 6p12. Method: In a propective evaluation of 54 living family member in a ingle pedigree, 21 peron were affected with autoomal dominant congenital nytagmu, and clinical examination were performed on 14. elected peron underwent further tudie, including electroretinography, canning laer ophthalmocopy, nerve fiber layer tudie, viual evoked potential tudie, and eye movement recording. Reult: Among even affected peron whoe parent were able to report whether the nytagmu wa preent congenitally, onet at birth wa noted in two peron and between 3 and 6 month in five peron. Bet-corrected binocular nellen viual acuity ranged from 20/30 to 20/100, with a mode of 20/50. trabimu wa preent in 14 examined patient (36%). Eye movement recording, performed on five peron, included aymmetric pendular (three), aymmetric pendular combined with dual waveform jerk (one), and unidirectional jerk nytagmu (one). Concluion: Autoomal dominant congenital nytagmu repreent a diorder with variable expreivity. While onet i typically during infancy, it can be noted at birth. Intrafamilial variation in viual acuity, ocular alignment, and nytagmu waveform ugget a role for modifying influence on expreion of dieae