Search
microphthalmia isolated type 6
see microphthalmia
Pathology:
- developmental ocular disorder
Genetics:
- associated with defects in PRSS56 (product of dubious gene prediction)
Clinical manifestations:
- microphthalmia: small malformed eyes
- extreme hyperopia due to short axial length
- normal, but shallow anterior segment
- steep corneal curvatures
- thick lenses
- thickened scleral wall
- palpebral fissures appear narrow because of relatively deep-set eyes
- visual acuity is mildly to moderately diminished
- anisometropic or strabismic amblyopia is common
- the fundus of the eye shows
a) crowded optical discs
b) tortuous vessels
c) abnormal foveal avascular zone
Special laboratory:
- funduscopy:
- crowded optical discs
- tortuous vessels
- abnormal foveal avascular zone
General
microphthalmia (nanophthalmos)
Database Correlations
OMIM 613517
References
OMIM :accession 613517