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Best disease associated with macular hole
Ramin Nourinia1, Danial Roshandel, Behzad S Lima
1Ophthalmic Research Center, Labbafinejad Medical Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Retinal Cases & Brief Reports
|November 11, 2014
Summary
Best vitelliform macular dystrophy can rarely lead to macular hole, causing significant vision loss. This case highlights the importance of considering macular holes in patients with this inherited retinal disease.
Area of Science:
- Ophthalmology
- Medical Genetics
Background:
- Best vitelliform macular dystrophy (BVMD) is an inherited retinal disorder characterized by yellow deposits in the macula.
- While typically causing progressive central vision loss, complications are not fully elucidated.
Observation:
- A 20-year-old male presented with progressive visual decline.
- Fundus examination revealed a classic vitelliform lesion in the right eye and a macular hole in the left eye.
- Optical coherence tomography (OCT) confirmed the macular hole and characteristic BVMD findings.
Findings:
- Electroretinogram showed reduced Arden ratios (<1.1) bilaterally.
- OCT imaging detailed photoreceptor-retinal pigment epithelium abnormalities in the affected eye.
- A large, full-thickness macular hole with cystoid macular edema was observed in the left eye without retinal detachment.
Implications:
- Macular holes, though rare, are a potential cause of severe visual impairment in BVMD patients.
- This case underscores the need for comprehensive ophthalmologic evaluation, including OCT, in managing BVMD.
- Early recognition of macular holes can guide treatment strategies for vision preservation in BVMD.
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