Abstract
The clinical and electrophysiologic data (electroretinograms and visual evoked potentials) were studied in 45 patients with optic nerve hypoplasia. The patients were divided into three fairly distinct groups on the basis of their electrophysiologic alterations. Group 1 consisted of 13 patients with almost extinguished visual evoked potentials and with mild electroretinographic alterations. These were the cases that are traditionally recognized as optic nerve hypoplasia. The serious visual impairment in these cases was accompanied by various developmental ophthalmologic and nonophthalmologic abnormalities. Group 2 included 26 patients without any significant visual evoked potential or electroretinographic alterations, but with overt funduscopic signs of optic nerve hypoplasia. These patients were consistently suffering from strabismus and/or amblyopia. The visual functions based on visual evoked potential and electroretinographic recordings could be fairly normal apart from a pathologic ophthalmoscopic picture characteristic of optic nerve hypoplasia. Group 3 included six patients with abnormal albeit well-recordable visual evoked potentials and subnormal or negative-type electroretinograms that suggested an accompanying retinal disease. This finding seems to prove that a subset of patients with optic nerve hypoplasia with nystagmus may have a primary retinal abnormality. Our study provides further evidence that optic nerve hypoplasia is not a uniform disease entity.
Article PDF
Similar content being viewed by others
Avoid common mistakes on your manuscript.
References
Helveston EM. Unilateral hypoplasia of the optic nerve. Arch Ophthalmol 1966; 76: 195–6.
Ewald RA. Unilateral hypoplasia of the optic nerve radiologic and electroretinographic findings. Am J Ophthalmol 1967; 63: 763–7.
Small optic discs (editorial). Br J Ophthalmol 1978; 62: 1–2.
Edwards WC, Layden WE. Optic nerve hypoplasia. Am J Ophthalmol 1970; 70: 950–9.
Frisen L, Holmegaard L. Spectrum of optic nerve hypoplasia. Br J Ophthalmol 1978; 62: 7–15.
Brown GC. Optic nerve hypoplasia and colobomatous defects. J Pediatr Ophthalmol Strabismus 1982; 19: 90–3.
Jensen PE, Kalina RE. Congenital abnormalities of the optic disk. Am J Ophthalmol 1986; 82: 27–31.
Layman PR, Anderson DR, Flynn JJ. Frequent occurrence of hypoplastic disks in patients with aniridia. Am J Ophthalmol 1974; 77: 513–6.
Zeki SM, Dutton GN. Optic nerve hypoplasia in children. Br J Ophthalmol 1990; 74: 300–4.
De Morsier G. Median cranio-encephalic dysraphies and olfacto-genital dysplasia. World Neurol 1962; 3: 485–506.
Rush JA, Bajandas FJ. Septo-optic dysplasia (De Morsier syndrome). Am J Ophthalmol 1978; 86: 202–5.
Burke JP, Keefe M, Bowel R. Optic nerve hypoplasia, encephalopathy, and neuorodevelopmental handicap. Br J Ophthalmol 1991; 75: 236–9.
Skarf B, Hoyt CS. Optic nerve hypoplasia in children. Association with anomalies of the endocrine and CNS. Arch Ophthalmol 1984; 102: 62–7.
Hoyt WF, Kaplan JL, Grumbach MM, Glasser JJ. Septo-optic dysplasia and pituitary dwarfism. Lancet 1970; 1: 893–4.
Ellenberger C, Runyan TE. Holoprosencephaly with hypoplasia of the optic nerves, dwarfism and agenesis of the septum pellucidun. Am J Ophthalmol 1970; 70: 960–7.
Björk A, Laurell CG, Laurell U. Bilateral optic nerve hypoplasia with normal visual acuity. Am J Ophthalmol 1978; 86: 524–9.
Petersen RA, Walton DS. Optic nerve hypoplasia with good visual acuity and visual field. A study of children of diabetic mothers. Arch Ophthalmol 1977; 95: 54–8.
Gardner HB, Irvine RA. Optic nerve hypoplasia with good visual acuity. Arch Ophthalmol 1972; 88: 255–8
Alvarez E, Wakakura M, Khan Z, Dutton GN. The disc-macula distance to disc diameter ratio. A new test for confirming optic nerve hypoplasia in young children. J Pediatr Ophthalmol Strabismus 1988; 25: 151–4.
Coupland SG, Janáky M. ERG electrode in pediatric patients. Comparison of DTL fiber, PVA gel and noncorneal skin electrodes. Doc Ophthalmol 1989; 71: 427–33.
Margolith D, Jan JE, McCormick AQ, Tze WJ, Lapointe J. Clinical spectrum of optic nerve hypoplasia. Review of 51 patients. Dev Med Child Neurol 1984; 26: 311–22.
Francois J, DeRouck A. Electroretinographical study of the hypoplasia of the optic nerve. Ophthalmologica 1976; 172: 308–30.
Sprague JB, Wilson WB. Electrophysiologic findings in bilateral optic nerve hypoplasia. Arch Ophthalmol 1981; 99: 1028–9.
Francois J, Hruby K. Über seltene Beobachtungen von Hypoplasia der Netzhaut. Klin Monatsbl Augenheilkd 1970; 157: 605–16.
Kriss A, Russel-Eggit I. Electrophysiological assessment of visual pathway function in infants. Eye 1992; 6: 145–53.
Jakobson JH, Suzuki T. Effects of optic nerve section on the ERG. Arch. Ophthalmol 1962; 67: 791–801.
Borg E, Knabe B. Long term changes in the ERG following transection of the optic nerve in the rabbit. Acta Physiol Scand 1971; 82: 277–81.
Pinkers A, Lion F, Notting JGA. X-chromosomal recessive night blindness and tilted disk anomaly. A case report. Ophthalmologica 1978; 176: 160–3.
Heckenlively JR, Martin DA, Rosenbaum AL. Loss of electroretinographic oscillatory potentials, optic atrophy and dysplasia in congenital stationary night blindness. Am J Ophthalmol 1983; 96: 526–34.
Dorrel D. Tilted disc. Br J Ophthalmol 1978; 62: 16–20.
Kushner BJ. Functional amblyopia associated with abnormalities of the optic nerve. Arch Ophthalmol 1984; 102: 683–5.
Zeki SM. Optic nerve hypoplasia and astigmatism. A new association. Br J Ophthalmol 1990; 74: 297–9.
Good PS, Searle AET, Campbell S, Crews SJ. Value of the ERG in congenital nystagmus. Br J Ophthalmol 1979; 73: 512–515.
Mosier MA, Lieberman MF, Green WR, Knox DL. Hypoplasia of the optic nerve. Arch Ophthalmol 1978; 96: 1437–42.
Novakovic P, Taylor DS, Hoyt WF. Localizing patterns of optic nerve hypoplasia. Retina to occipital lobe. Br J Ophthalmol 1988; 72: 176–82.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Janáky, M., Deák, A., Pelle, Z. et al. Electrophysiologic alterations in patients with optic nerve hypoplasia. Doc Ophthalmol 86, 247–257 (1994). https://doi.org/10.1007/BF01203548
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01203548