BACKGROUND: Non leaking macular cystoid spaces (MCS) are seen in some retinal dystrophies. Carbonic anhydrase inhibitor (CAI) treatment may reduce the size of MSC and improve vision. METHODS: A retrospective study of patients with retinal dystrophy with MCS seen between 2009 and 2013 at two sites. Patients had ophthalmic examination, optical coherence tomography (OCT) and genetic testing. Patients with vision worse than 20/30 were treated with CAI. Post treatment visual acuity (VA), central foveal zone (CFZ) thickness, and qualitative estimation of MCS size were assessed. RESULTS: Eighteen patients, 6-47 years old, were included. IVFA was performed in 15 (83%) patients. Of the 26 eyes in 13 patients who were treated and followed, VA improved in 15 eyes (58%) of 10 patients. Ten of these 15 eyes had decreased CFZ thickness and 9/10 showed qualitative MCS improvement. Regression analysis showed that change in CFZ thickness was not significantly predictive of change in final visual acuity (p = 0.405). Five of 15 eyes with improved VA had paradoxically increased CFZ thickness and 2/5 had enlarged MCS. Three of the treated eyes (11%) in two patients had decreased VA with decreased CFZ thickness and improved MCS in 2/3 eyes. Eight eyes (31%) in six patients showed no change in VA with decreased CFZ thickness in 6/8 eyes with improved MCS. Genetic testing showed mutations of NR2E3, XLRS, CRB1, GPR98 and CNGB1. CONCLUSION: Non-leaking MCS occur in a variety of retinal dystrophies. Therapy with topical or systemic CAI has variable efficacy and may result in VA improvement with or without qualitative improvement in MCS and CFZ thickness.
BACKGROUND:Non leaking macular cystoid spaces (MCS) are seen in some retinal dystrophies. Carbonic anhydrase inhibitor (CAI) treatment may reduce the size of MSC and improve vision. METHODS: A retrospective study of patients with retinal dystrophy with MCS seen between 2009 and 2013 at two sites. Patients had ophthalmic examination, optical coherence tomography (OCT) and genetic testing. Patients with vision worse than 20/30 were treated with CAI. Post treatment visual acuity (VA), central foveal zone (CFZ) thickness, and qualitative estimation of MCS size were assessed. RESULTS: Eighteen patients, 6-47 years old, were included. IVFA was performed in 15 (83%) patients. Of the 26 eyes in 13 patients who were treated and followed, VA improved in 15 eyes (58%) of 10 patients. Ten of these 15 eyes had decreased CFZ thickness and 9/10 showed qualitative MCS improvement. Regression analysis showed that change in CFZ thickness was not significantly predictive of change in final visual acuity (p = 0.405). Five of 15 eyes with improved VA had paradoxically increased CFZ thickness and 2/5 had enlarged MCS. Three of the treated eyes (11%) in two patients had decreased VA with decreased CFZ thickness and improved MCS in 2/3 eyes. Eight eyes (31%) in six patients showed no change in VA with decreased CFZ thickness in 6/8 eyes with improved MCS. Genetic testing showed mutations of NR2E3, XLRS, CRB1, GPR98 and CNGB1. CONCLUSION: Non-leaking MCS occur in a variety of retinal dystrophies. Therapy with topical or systemic CAI has variable efficacy and may result in VA improvement with or without qualitative improvement in MCS and CFZ thickness.
Authors: F Nasser; S Kohl; L Kuehlewein; B Wissinger; C D Obermaier; A Kurtenbach; E Zrenner Journal: Doc Ophthalmol Date: 2019-04-20 Impact factor: 2.379
Authors: Bojana Radojevic; Kaylie Jones; Martin Klein; Margarita Mauro-Herrera; Ronald Kingsley; David G Birch; Lea D Bennett Journal: Ophthalmic Genet Date: 2020-10-14 Impact factor: 1.803
Authors: Marco Nassisi; Vasily M Smirnov; Cyntia Solis Hernandez; Saddek Mohand-Saïd; Christel Condroyer; Aline Antonio; Laura Kühlewein; Melanie Kempf; Susanne Kohl; Bernd Wissinger; Fadi Nasser; Sara D Ragi; Nan-Kai Wang; Janet R Sparrow; Vivienne C Greenstein; Stylianos Michalakis; Omar A Mahroo; Rola Ba-Abbad; Michel Michaelides; Andrew R Webster; Simona Degli Esposti; Brooke Saffren; Jenina Capasso; Alex Levin; William W Hauswirth; Claire-Marie Dhaenens; Sabine Defoort-Dhellemmes; Stephen H Tsang; Eberhart Zrenner; Jose-Alain Sahel; Simon M Petersen-Jones; Christina Zeitz; Isabelle Audo Journal: Hum Mutat Date: 2021-05-16 Impact factor: 4.700