Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide

Alessandro Iannaccone; Kenneth H Fung; Mari E Eyestone; Edwin M Stone

doi:10.1016/j.ajo.2008.08.003

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Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide

Journal article

Open access

Peer reviewed

Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide

Alessandro Iannaccone, Kenneth H Fung, Mari E Eyestone and Edwin M Stone

American journal of ophthalmology, Vol.147(2), pp.307-312.e2

02/2009

DOI: 10.1016/j.ajo.2008.08.003

PMCID: PMC2677970

PMID: 18835469

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https://www.ncbi.nlm.nih.gov/pmc/articles/2677970View

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Abstract

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). Interventional case report. 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. 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. 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.

Eye Diseases - complications

Humans

Middle Aged

Male

Orphan Nuclear Receptors

Visual Acuity - physiology

Carbonic Anhydrase Inhibitors - therapeutic use

Electroretinography

Acute Disease

Administration, Oral

Retinal Degeneration - drug therapy

Retinal Degeneration - genetics

Tomography, Optical Coherence

Retinoschisis - genetics

Retinoschisis - drug therapy

Treatment Outcome

Receptors, Cytoplasmic and Nuclear - genetics

Transcription Factors - genetics

Genes, Recessive

Syndrome

Retinoschisis - etiology

Eye Diseases - genetics

Eye Diseases - drug therapy

Vitreous Body - pathology

Acetazolamide - therapeutic use

Retina - pathology

Retinal Degeneration - complications

Details

Title: Subtitle: Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide
Creators: Alessandro Iannaccone - Retinal Degeneration and Ophthalmic Genetics Service, Hamilton Eye Institute, University of Tennessee Health Science Center, Memphis, Tennessee, USA. iannacca@utmem.edu
Kenneth H Fung
Mari E Eyestone
Edwin M Stone
Resource Type: Journal article
Publication Details: American journal of ophthalmology, Vol.147(2), pp.307-312.e2
DOI: 10.1016/j.ajo.2008.08.003
PMID: 18835469
PMCID: PMC2677970
NLM abbreviation: Am J Ophthalmol
ISSN: 0002-9394
eISSN: 1879-1891
Publisher: United States
Grant note: Howard Hughes Medical Institute K23 EY000409-05 / NEI NIH HHS
Language: English
Date published: 02/2009
Academic Unit: Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
Record Identifier: 9983979918102771

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