Microphthalmia
| Classification according to ICD-10 | |
|---|---|
| Q11.2 | Microphthalmos |
| ICD-10 online (WHO version 2019) | |
Microphthalmia (from the Greek μικρός mikros "small" and ὄφθαλμος ophthalmos "eye") denotes the innate, unusual smallness or even rudimentary development of one or both eyeballs.
Pronounced forms are also called nanophthalmia . If the eye is not closed at all, one speaks of anophthalmia . An eye that is enlarged beyond the age norm is called macrophthalmia .
In addition to the reduced size, there are usually other malformations of the eyeball, such as cleft formation .
distribution
The frequency is given as 1–9 in 100,000; it is found in up to 11% of blind children. The disease occurs in isolation or in 30% as part of a syndrome .
root cause
Microphthalmia is based on a disorder of the morphogenesis of eye development . It is often associated with a coloboma (cracking of the iris and other structures), which can also be traced back to a developmental disorder in the same developmental phase.
There is an association with fetal alcohol syndrome , maternal vitamin A deficiency , radiation exposure and infections during pregnancy such as rubella during pregnancy , herpes simplex and cytomegaly . Thalidomide (Contergan) can also induce this developmental disorder.
Microphthalmia is usually genetic (e.g. in connection with trisomy 13 , triploidy or Peters-Plus-Syndrome ) and can occur together with other inhibitory malformations , e.g. B. in Delleman syndrome or Wolf-Hirschhorn syndrome .
There are also acquired forms after injuries with perforation of the eye, with retrolental fibroplasia or endophthalmitis .
In the context of syndromes
In various syndromes, a microphthalmia can occur as a feature, so-called syndromal microphthalmia .
diagnosis
The diagnosis can already be made intrauterine by fine ultrasound , otherwise later by the clinical examination together with imaging diagnostics and molecular genetics .
Differential diagnosis
To be differentiated are cryptophthalmos, cyclopia , synophthalmia and the congenital cystic eye.
treatment
The treatment tries to optimize the existing eyesight and appearance. Conformer prostheses or remodeling of the eye socket with volume replacement (implants, expanders, transplantation of subcutaneous fatty tissue) and reconstruction of the soft tissues are possible.
See also
literature
- AS Verma, DR Fitzpatrick: Anophthalmia and microphthalmia. In: Orphanet J Rare Dis. 2007 Nov 26; 2, p. 47. PMID 18039390 , PMC 2246098 (free full text)
Individual evidence
- ↑ a b c d e anophthalmia / microphthalmia, isolated form. In: Orphanet (Rare Disease Database).
- ↑ Nanophthalmia. In: Orphanet (Rare Disease Database).
- ↑ Nanophthalmia. In: Orphanet (Rare Disease Database).
