microphthalmia isolated type 6

Introduction

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
  • crowded optical discs
  • tortuous vessels
  • abnormal foveal avascular zone

Diagnostic procedures

• funduscopy:
  • crowded optical discs
  • tortuous vessels
  • abnormal foveal avascular zone

More general terms

• microphthalmia (nanophthalmos)

Database

• OMIM: https://mirror.omim.org/entry/613517