microphthalmia
Toddler with
small orbits. Axial (above) and coronal (below) CT with contrast of the orbits show bilaterally small orbits containing small optic nerves and small extraocular muscles. There is also bilaterally calcification in the center of the vitreous of the globes and colobomatous cysts inferolaterally within the orbits.The diagnosis was microphthalmia and coloboma.
Extremely
premature newborn now 2 months old. Axial T2 MRI without contrast of the brain shows small orbits bilaterally. Heterogeneity of the vitreous humor could not be assessed for on the other sequences due to patient motion.The diagnosis was bilateral microphthalmia due to retinopathy of prematurity.
Persistent
hyperplastic primary vitreous • PHPV and retinal detachment - Ganzer Fall bei Radiopaedia
Microphthalmia
• Bilateral microphthalmia - Ganzer Fall bei Radiopaedia
Fetal
hydrocephalus • Craniofacial malformations (antenatal ultrasound) - Ganzer Fall bei Radiopaedia
Microphthalmia essentially means small eyes. It is characterized by a small eye within a small orbit. It can be unilateral or bilateral. It is sometimes defined as a globe with a total axial length that is at least two standard deviations below the mean for age.
Pathology
Microphthalmia can have a complex etiology and genetics.
Associations
Microphthalmia can either occur isolation in association or with numerous other conditions which include
- aneuploidic syndromic
- non-aneuploidic syndromic
- Aicardi syndrome
- fetal alcohol syndrome
- Fraser syndrome
- Fryns syndrome
- Goldenhar syndrome
- Gorlin syndrome
- Lenz syndrome
- microphthalmia microcephaly syndrome
- Pierre Robin syndrome
- Treacher Collins syndrome
- non-aneuploidic non-syndromic
Radiographic assessment
Antenatal ultrasound
Assessment and detection of microphthalmia antenatally is difficult and is often inferred from a small size of the orbit. There may or may not be evidence of concurrent hypotelorism.
See also
Siehe auch:
- Pätau-Syndrom
- Gorlin-Goltz-Syndrom
- Holoprosencephalie
- Aicardi-Goutières-Syndrom
- Franceschetti-Zwahlen-Syndrom
- Triploidie
- in utero infection
- Goldenhar-Gorlin-Syndrom
- Hypotelorismus
- Fetales Alkoholsyndrom
- Fryns-Syndrom
- Pierre-Robin-Sequenz
- Fraser-Syndrom
- persistierender hyperplastischer primärer Glaskörper (PHPV)
- Anophthalmie
- Syndromale Mikrophthalmie
und weiter:
Assoziationen und Differentialdiagnosen zu Mikrophthalmus:
persistierender
hyperplastischer primärer Glaskörper (PHPV)