Megalocornea

Classification according to ICD-10
Q15.8	Other specified congenital malformations of the eye
ICD-10 online (WHO version 2019)

A megalocornea (from ancient Greek μέγας megas , megalo , German 'large' and Latin cornea 'horn' ) describes a rare, abnormally enlarged diameter of the otherwise normal cornea . Synonyms are: macro cornea , megacornea , megacornea , Latin cornea globosa , English megalocornea .

Classification

Depending on the intraocular pressure , a distinction can be made:

• Simple isolated form, ( simple isolated megalocornea ), harmless with normal eye pressure
• Form with increased eye pressure ( hydrophthalmos ) and risk of blindness
• Form with other malformations such as anterior megophthalmos , dysgenesis of the iris , the lens of the eye or the ciliary body

root cause

The cause of this developmental disorder is unknown. It occurs, among other things, as a sign of a keratoglobus , usually with myopia and high astigmatism .

In the case of congenital forms, inheritance is mostly X-linked - recessive , much less often autosomal

• MGCN1 (MGCN) The disease is based on mutations in the CHRDL1 gene at locus Xq23.

In the context of syndromes

The megalocornea often occurs in the context of Marfan's syndrome .

• Anophthalmia - megalocornea - cardiopathy - skeletal abnormalities (Cassia-Stocco-dos Santos syndrome)
• Megalocornea - spherophakia - secondary glaucoma
• Megalocornea - intellectual disability syndrome (megalocornea - mental retardation; MMR syndrome; Neuhäuser syndrome )

It is also a symptom of Diallinas-Amalric syndrome or N syndrome .

literature

• SC Goebels, B. Seitz, B. Käsmann-Kellner: What kind of big eyes do you have? In: Der Ophthalmologe: Journal of the German Ophthalmological Society. Vol. 110, No. 12, December 2013, pp. 1188-1191, doi: 10.1007 / s00347-013-2791-4 , PMID 23595650 .
• O. Roche, P. Dureau, Y. Uteza, JL Dufier: La mégalocornée congénitale. In: Journal français d'ophtalmologie. Vol. 25, No. 3, March 2002, pp. 312-318, PMID 11941259 (Review).

Individual evidence

1. ↑ D. Schmidt: Megalocornea (glaucoma in infancy and toddler age) , In: Tips and tricks for the ophthalmologist. Problem solutions from A to Z , 2008, pp. 253-255, ISBN 978-3-540-48717-3 (print) 978-3-540-48718-0 (online)
2. ↑ Megalocornea, isolated congenital. In: Orphanet (Rare Disease Database).
3. ↑ ^{a b} Emedicine
4. ^ Medical lexicon
5. ↑ Megalocornea.  In: Online Mendelian Inheritance in Man . (English)
6. ↑ Megalocornea 1, X-linked.  In: Online Mendelian Inheritance in Man . (English)
7. ↑ Marfan's syndrome.  In: Online Mendelian Inheritance in Man . (English)
8. ↑ Anophthalmia - megalocornea - cardiopathy - skeletal anomalies. In: Orphanet (Rare Disease Database).
9. ↑ Megalocornea - spherophakia - secondary glaucoma. In: Orphanet (Rare Disease Database).
10. ↑ Megalocornea mental retardation syndrome (megalocornea - mental retardation). In: Orphanet (Rare Disease Database).
11. ^ B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger, 7th edition. Urban & Schwarzenberg 1990, ISBN 3-541-01727-9

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !