Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide.
OBJECTIVE
To report on the efficacy of the oral carbonic anhydrase inhibitor (CAI) acetazolamide in treating macular retinoschisis (RS) in the rare vitreoretinal dystrophy best known as the enhanced S-cone syndrome (ESCS).


METHODS
Interventional case report.


METHODS
setting: University-based practice. patient: A 48-year old Jewish Italian male with clinically, functionally, and molecularly confirmed ESCS, attributable to homozygosity for the R311Q mutation in the NR2E3 gene, presented with sudden visual acuity (VA) loss (20/200) and metamorphopsia in the left eye resulting from acute, late-onset, asymmetric macular RS. intervention: Open-label, off-label treatment with the oral CAI acetazolamide. main outcome measure(s): Best-corrected VA, retinal thickness, and retinal microanatomy, assessed by Stratus optical coherence tomography (OCT) criteria.


RESULTS
Following treatment, instituted one month after the acute-onset VA loss, retinal thickness and microanatomic profile normalized in the affected eye, with restoration of 20/20 corrected VA. The fellow eye, which had remained asymptomatic at 20/16 vision, had experienced mild paracentral macular RS evident by OCT criteria, which also resolved completely following oral CAI treatment. The outcome was maintained throughout the follow-up period at a low maintenance dose.


CONCLUSIONS
Taken together with other recent reported benefits of topical and oral CAIs in the treatment of macular RS in X-linked retinoschisis, this interventional case report shows that CAIs can be used to treat effectively macular RS in general, and also specifically in ESCS.
Iannaccone
Alessandro
A
Retinal Degeneration and Ophthalmic Genetics Service, Hamilton Eye Institute, University of Tennessee Health Science Center, Memphis, Tennessee, USA. iannacca@utmem.edu
Fung
Kenneth H
KH
Eyestone
Mari E
ME
Stone
Edwin M
EM
D000086:Acetazolamide / Q000627:therapeutic use*; D000208:Acute Disease; D000284:Administration, Oral; D002257:Carbonic Anhydrase Inhibitors / Q000627:therapeutic use*; D004596:Electroretinography; D005128:Eye Diseases / Q000150:complications / Q000188:drug therapy* / Q000235:genetics; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008875:Middle Aged; D057093:Orphan Nuclear Receptors; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics; D012160:Retina / Q000473:pathology; D012162:Retinal Degeneration / Q000150:complications / Q000188:drug therapy* / Q000235:genetics; D041441:Retinoschisis / Q000188:drug therapy* / Q000209:etiology / Q000235:genetics; D013577:Syndrome; D041623:Tomography, Optical Coherence; D014157:Transcription Factors / Q000235:genetics; D016896:Treatment Outcome; D014792:Visual Acuity / Q000502:physiology; D014822:Vitreous Body / Q000473:pathology*
D002257:Carbonic Anhydrase Inhibitors; C403073:NR2E3 protein, human; D057093:Orphan Nuclear Receptors; D018160:Receptors, Cytoplasmic and Nuclear; D014157:Transcription Factors; D000086:Acetazolamide