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Macular cystoid spaces in patients with retinal dystrophy
Michelle D Lingao1,2, Anuradha Ganesh3, Arcot S Karthikeyan4
1a Wills Eye Hospital , Philadelphia , Pennsylvania , USA.
Ophthalmic Genetics
|February 20, 2016
Summary
Carbonic anhydrase inhibitors (CAI) offer variable efficacy in treating non-leaking macular cystoid spaces (MCS) in retinal dystrophies. Some patients experience improved vision and reduced MCS size, but outcomes are inconsistent.
Area of Science:
- Ophthalmology
- Medical Research
- Genetics
Background:
- Non-leaking macular cystoid spaces (MCS) are observed in various retinal dystrophies.
- Carbonic anhydrase inhibitors (CAI) are being investigated for their potential to reduce MCS size and improve vision.
Purpose of the Study:
- To evaluate the efficacy of CAI treatment in patients with retinal dystrophy and MCS.
- To assess changes in visual acuity (VA), central foveal zone (CFZ) thickness, and MCS size following CAI therapy.
Main Methods:
- Retrospective study of 18 patients (6-47 years) with retinal dystrophy and MCS between 2009-2013.
- Ophthalmic examination, optical coherence tomography (OCT), and genetic testing were performed.
- Patients with VA worse than 20/30 received CAI treatment; outcomes were assessed post-treatment.
Main Results:
- Of 26 treated eyes, 15 (58%) showed improved VA. Of these, 10 had decreased CFZ thickness and 9 showed qualitative MCS improvement.
- CFZ thickness change was not a significant predictor of VA improvement (p=0.405).
- Variable responses were observed, including paradoxical increases in CFZ thickness and MCS size, decreased VA, or no change in VA despite anatomical improvements.
Conclusions:
- CAI therapy demonstrates variable efficacy for non-leaking MCS in retinal dystrophies.
- VA improvement can occur with or without concurrent improvements in MCS size or CFZ thickness.
- Genetic testing identified mutations in NR2E3, XLRS, CRB1, GPR98, and CNGB1 in the studied patients.
