Abstract | PURPOSE OF REVIEW: RECENT FINDINGS: Macular cysts in retinal dystrophy are seen in retinopathies caused by mutations in the NR2E3 gene, juvenile X-linked retinoschisis (XLRS), and some other retinal dystrophies. These must be distinguished from CME. Optical coherence tomography can clearly demonstrate intraretinal cysts which may not be clinically detectable. Intravenous fluorescein angiography (IVFA) does not show macular hyperfluorescence (i.e. leakage). Molecular genetic testing aids in the diagnosis and elucidation of pathophysiology. Carbonic anhydrase inhibitors may promote resolution of the cysts resulting in visual improvement. SUMMARY:
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Authors | Anuradha Ganesh, Eliza Stroh, George J Manayath, Sana Al-Zuhaibi, Alex V Levin |
Journal | Current opinion in ophthalmology
(Curr Opin Ophthalmol)
Vol. 22
Issue 5
Pg. 332-9
(Sep 2011)
ISSN: 1531-7021 [Electronic] United States |
PMID | 21730849
(Publication Type: Journal Article, Review)
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Chemical References |
- Carbonic Anhydrase Inhibitors
- NR2E3 protein, human
- Orphan Nuclear Receptors
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Topics |
- Blood-Retinal Barrier
- Carbonic Anhydrase Inhibitors
(therapeutic use)
- Cysts
(diagnosis, drug therapy, etiology)
- Diagnosis, Differential
- Fluorescein Angiography
- Genetic Testing
- Humans
- Macular Edema
(diagnosis, drug therapy, etiology)
- Male
- Orphan Nuclear Receptors
(genetics)
- Retinal Diseases
(diagnosis, genetics)
- Retinal Dystrophies
(complications, diagnosis)
- Retinoschisis
(complications, diagnosis)
- Tomography, Optical Coherence
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