Optic nerve hypoplasia

from Wikipedia, the free encyclopedia
Classification according to ICD-10
Q07.8 Other specified congenital malformations of the nervous system
H47.0 Optic nerve affections, not elsewhere classified
ICD-10 online (WHO version 2019)

The optic nerve hypoplasia is a very rare congenital disease with hypoplasia of the optic nerve on both sides, more rarely on one side.

Synonyms are: English Optic nerve hypoplasia (ONH)

The first description of aplasia of the papilla comes from the French doctor W. Briere in 1877 , and an optic nerve hypoplasia was described in 1884 by H. Magnus.

distribution

The condition is the third most common cause of visual impairment in young children. The frequency is given as 1–2 in 10,000 children.

In the context of syndromes

Optic nerve hypoplasia is an essential component of the following syndromes :

it also occurs in Walker-Dyson syndrome .

root cause

The isolated optic nerve hypoplasia are mutations in PAX6 - gene on chromosome 11 locus p13 based on which a Pax gene encodes see. The role of the Pax6 gene .

Clinical manifestations

Clinical criteria are:

  • usually bilateral, less often unilateral hypoplasia of the optic nerve

In addition to endocrine disorders , mental retardation and malformations of the brain come.

diagnosis

The diagnosis results from clinical and imaging examinations using magnetic resonance tomography and optical coherence tomography .

Differential diagnosis

The following are to be distinguished:

literature

  • R. Lohmüller, AS Gangloff, F. Wenzel, WA Lagrèze: Optic hypoplasia and septo-optic dysplasia. In: Der Ophthalmologe: Journal of the German Ophthalmological Society. Volume 114, Number 8, August 2017, pp. 759-766, doi: 10.1007 / s00347-017-0535-6 , PMID 28699050 .
  • T. Khaper, M. Bunge, I. Clark, MF Rafay, A. Mhanni, N. Kirouac, A. Sharma, C. Rodd, B. Wicklow: Increasing incidence of optic nerve hypoplasia / septo-optic dysplasia spectrum: Geographic clustering in Northern Canada. In: Pediatrics & child health. Volume 22, number 8, November 2017, pp. 445–453, doi: 10.1093 / pch / pxx118 , PMID 29479262 , PMC 5804768 (free full text).
  • A. Ryabets-Lienhard, C. Stewart, M. Borchert, ME Geffner: The Optic Nerve Hypoplasia Spectrum: Review of the Literature and Clinical Guidelines. In: Advances in pediatrics. Volume 63, number 1, 08 2016, pp. 127-146, doi: 10.1016 / j.yapd.2016.04.009 , PMID 27426898 (review).
  • E. Karahan, A. Tulin Berk: Ocular, Neurologic and Systemic Findings of the Cases with Optic Nerve Hypoplasia. In: The open ophthalmology journal. Volume 10, 2016, pp. 5–11, doi: 10.2174 / 1874364101610010005 , PMID 27014380 , PMC 4780520 (free full text).

Individual evidence

  1. ↑ a b Optic nerve hypoplasia, isolated. In: Orphanet (Rare Disease Database).
  2. ↑ a b c d e f eyewiki
  3. ^ W. Briere: Absence des papiller, cecite absolue. In: Annales d'oculistique 1877, Vol. 78, pp. 41-2
  4. ↑ H. Magnus: On the casuistry of congenital optic nerve malformations. In: Clinical Monthly Ophthalmology. 1884, vol. 2S. 85-87
  5. ↑ CA Chen, J. Yin, RA Lewis, CP Schaaf: Genetic causes of optic nerve hypoplasia. In: Journal of Medical Genetics . Volume 54, number 7, 07 2017, pp. 441-449, doi: 10.1136 / jmedgenet-2017-104626 , PMID 28501829 (review). Semantic scholar
  6. ↑ Fovea hypoplasia-optic nerve junction-dysgenesis of the anterior segment syndrome. In: Orphanet (Rare Disease Database).
  7. ↑ Optic nerve hypoplasia.  In: Online Mendelian Inheritance in Man . (English)
  8. ↑ G. Krämer, C. Corradini, U. Scherer *: The syndrome of the tilted optic nerve papilla: A rare cause of bitemporal hemianopia. In: Current Neurology. 11, 1984, p. 134, doi: 10.1055 / s-2007-1020841 .

Web links