choroidal atrophy (vitreoretinochoroidopathy)

Etiology

• hereditary
• age-related form

Genetics

• autosomal dominant
• associated with defects in BEST1

Clinical manifestations

• variable
• small corneas & shallow anterior chambers in some patients
• chronic narrow angle glaucoma or angle closure glaucoma may occur
• microphthalmia has been reported
• presenile cataracts
• nystagmus
• trabismus
• some patients have normal vision
• other patients have loss of visual acuity, or blindness

Laboratory

• genetic testing

Diagnostic procedures

• electroretinography
• fluorescein angiography

Management

• not treatment
• monitor for glaucoma, retinal neovascularization, & retinal detachment

More general terms

• choroid disease
• genetic disease of the eye

Additional terms

• choroid