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Choroidal Caverns: A Previously Unreported Optical Coherence Tomography Finding in Best Vitelliform Dystrophy
Ophthalmic Surgery, Lasers & Imaging Retina
|April 18, 2018
Summary
Best vitelliform macular dystrophy (VMD), often caused by BEST1 gene mutations, may present with "choroidal caverns." This new optical coherence tomography finding suggests a link to the disease
Area of Science:
- Ophthalmology
- Genetics
- Retinal Diseases
Background:
- Best vitelliform macular dystrophy (VMD) is an inherited retinal disorder.
- Mutations in the BEST1 gene are the most common cause of Best VMD.
Observation:
- A novel optical coherence tomography (OCT) finding, termed "choroidal caverns," is described.
- These caverns appear in the choriocapillaris and choroid of patients with Best VMD.
Findings:
- Histopathology reveals extensive lipofuscin deposition in the retinal pigment epithelium (RPE).
- Fibrillar material accumulates beneath the RPE and within the choroid.
- Choroidal caverns correlate with these degenerative changes.
Implications:
- Choroidal caverns may serve as a diagnostic indicator of choroidal involvement in Best VMD.
- This finding enhances understanding of the pathophysiology of Best VMD.
- Further research may elucidate the role of choroidal caverns in disease progression.
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