Analysis of Inheritance in Infantile Nystagmus.

Kim, Ik Soo; Park, Sang Chul

Original Article

Journal of the Korean Ophthalmological Society 1996;37(6):1054-1061.
Published online June 1, 1996.

Analysis of Inheritance in Infantile Nystagmus.

¹Department of Ophthalmology, Kangnam St. Mary's Hospital, Catholic University, Medical College, Seoul, Korea.
²Suwon Lee's Eye Clinic, Suwon, Korea.

유아성 안진환자에서의 유전성 분석

김익수(Ik Soo Kim),박상철(Sang Chul Park)

Abstract

Infantile nystagmus is characterized by involuntary oscillations of one or both eyes being present at birth or shortly thereafter without systemic or ophthalmologic lesions. Its inheritance pattern is not known exactly, but three types have been distinguished; irregular dominant, sex linked recessive, and simple recessive patterns. We observed 15 patients with family history and analyzed the characteristics of their inheritance patterns. We concluded the patterns of inheritance are irregular X-linked or autosomal dominant inheritance with incomplete penetrance in 7 families(47%), X-linked recessive or autosomal dominant inheritance in 5 families(33%), and autosomal dominant inheritance in 3 families(20%), respectively.

Key Words: Autosomal dominant;Infantile nystagmus;Inheritance pattern;Irregular dominant;X-linked recessive