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choroidal atrophy (vitreoretinochoroidopathy)
Etiology:
- hereditary
- age-related form [2]
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
Special laboratory:
- electroretinography
- fluorescein angiography
Management:
- not treatment
- monitor for glaucoma, retinal neovascularization, & retinal detachment
Related
choroid
General
choroid disease
genetic disease of the eye
References
- The University of Arizona. Hereditary Ocular Disease.
Choroidal atrophy
http://disorders.eyes.arizona.edu/category/clinical-features/choroidal-atrophy
- Spaide RF
Age-related choroidal atrophy.
Am J Ophthalmol. 2009 May;147(5):801-10.
PMID: 19232561
- OMIM :accession 193220