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Anas Thommil, Keshav Narain; Carbonic Anhydrase Inhibitors and NSAID Use for Treating Juvenile X-Linked Retinoschisis. Invest. Ophthalmol. Vis. Sci. 2016;57(12):1125.
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The purpose of this case report is to describe the presentation, diagnosis, treatment and response of two patients with previously undiagnosed familial juvenile X-linked retinoschisis to topical and oral carbonic anhydrase inhibitors (CAIs).
A 33 year old Hispanic male (4100JL) was referred for retinal evaluation by his optometrist. PMH is notable for decreasing vision beginning at age 15. Family history is notable for an older brother (4107JL) with a similar visual disorder, and grandfathers on both sides with visual disabilities. Exam, OCT, and history are consistent with JXLR.The patient initially presented with edema and retinal stippling, and was placed on a combination of topical dorzolamide and oral acetazolamide as treatment. The older brother also had edema, but was only prescribed dorzolamide as side effects were experienced with acetazolamide in 4100JL. Both patients were also placed on bromfenac in one eye.Fundus photography, optical coherence tomography (OCT), fluorescein angiography (FA), visual evoked potential (VEP), and pattern electroretinography (pERG) were all carried out for both patients over a period of 7 months.
OCT scans before and after treatment by CAIs in both patients demonstrated reduction of schisis cavities and central foveal thickness. Initial fundus photos reveal classic features of XLRS - stellate peri-foveal RPE changes - while post treatment photos appear normal.Visual acuity, however, improved only in the younger brother that received an initial oral acetazolamide along with extended topical dorzolamide and bromfenac. Furthermore, only the eye that received bromfenac in the younger brother had measurable improvement.In both patients, post treatment VEP testing revealed normal latencies and waveforms, indicating normal optic nerve function. However, the ERG waveforms exhibited abnormalities with low voltage amplitudes OU.
There appears to be benefit to the use of CAIs in reduction of retinoschisis cavities. This does not always translate into better vision. Our cohort of two suggests that other factors are likely to be critical and may include duration of disease, degree of prostaglandin-mediated inflammation, and method of administration (topical vs systemic). Since a topical anti-inflammatory drop was also used only in the eye that showed improvement in Snellen acuity, this may be a more critical factor than method of administration.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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