Clinical Manifestations of Optic Nerve Hypoplasia.

Kim, Eun Ah; Hong, Jeong Seok; Chang, Woo Hyok; Kim, Myung Mi

Original Article

Journal of the Korean Ophthalmological Society 2006;47(9):1465-1471.
Published online September 30, 2006.

Clinical Manifestations of Optic Nerve Hypoplasia.

Eun Ah Kim, Jeong Seok Hong, Woo Hyok Chang, Myung Mi Kim

Department of Ophthalmology, Yeungnam University College of Medicine, Daegu, Korea. mmk@med.yu.ac.kr

시신경형성저하 환자의 임상적 특징

김은아,홍정석,장우혁,김명미

Department of Ophthalmology, Yeungnam University College of Medicine, Daegu, Korea

Correspondence: Eun Ah Kim, M.D.

Abstract

PURPOSE
To estimate the baseline demographic and ocular characteristics of patients with optic nerve hypoplasia (ONH), and to analyze the different features and frequency of coexistent CNS abnormalities and pituitary hormone deficiency. METHODS: The authors reviewed the medical records of the patients who were seen between January 1988 and July 2005. Eyes with disc-to-macula / disc diameter ratio of 3.0 or more were eligible. The study comprised 70 patients (45 male, 25 female) and the average age was 6.4 years. RESULTS: Ocular manifestations included strabismus and nystagmus in 60 patients (85.7%) and 23 patients (32.9%), respectively. Eighty-four patients (87.5%) had visual acuity of 0.3 or less. Neuroradiologic examination of 27 patients revealed two with septo-optic dysplasia, two with pituitary hypoplasia, one with an absence of corpus callosum, one with diffuse encephalomalacia, one with a cerebral infarction in the right cerebral hemisphere, and one with a cerebellar injury. Of 12 patients who had undergone a clinical laboratory test, two had isolated growth hormone deficiency, one had a combined deficiency of growth hormone and gonadotropin and one had a combined deficiency of growth hormone and thyrotropin. CONCLUSIONS: Ocular features frequently associated with ONH are strabismus, nystagmus and poor vision. ONH is often associated with a wide variety of central nervous system abnormalities and pituitary hormone defect, so a systematic approach to patients with ONH is always recommended.

Key Words: Optic nerve hypoplasia;Pituitary hormone deficiency;Septo-optic dysplasia