First Author: A.Quintero SPAIN
Co Author(s): I. Baquero Aranda J. Yanguas Lucena
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X chromosome-linked retinoschisis is a retinal dystrophy caused by mutation of the RS1 gene located in the Xp22.1 chromosome. Mutation causes microcystic degeneration of the macula and peripheral splitting of the retina involving the nerve fibre layer. To date no therapeutics have been shown to be totally effective in the disease treatment. This report presents the 8-years follow-up of a case of genetically confirmed case of X-Linked Juvenile retinoschisis (XLRS) treated with oral Acetazolamide.
This patient is followed up in our medical retina clinic at Hospital Universitario Virgen de la Victoria, Málaga, Spain.
A twenty-four-year-old man is diagnosed with X-linked juvenile retinoschisis in 2008, with no other relevant personal history. Best corrected visual acuity was collected at each visit and retinal structure was monitored using Spectral-Domain optical coherence tomography (SD-OCT). In 2009, the first macular intraretinal cysts were identified by SD-OCT, and treatment with topical carbonic anhydrase inhibitors (CAI) and topical Bromfenac® is started. Despite treatment the schisis persisted, so we decided to start treatment with oral Acetazolamide, at a dosage of 750 mg/day. After completely suppressing the treatment in January 2015, symptomatology and retinal alterations reappeared in April 2015, so Acetazolamide was again restored.
SD-OCT images show a rapid recovery of retinal structure after a short-term treatment with Acetalozamide. However, the cystoid spaces reappeared after discontinuation of the treatment. The patient remained stable with 62.5mg of weekly Acetazolamide until November 2016, when mild cysts appear, with a greater impact on the left eye. The treatment was restored to the previous effective dose of 62.5 mg twice weekly, and urine and blood analytical checks were requested to assess the potential systemic impact of the treatment.
Oral Acetazolamide has been shown to be effective in the short-term to improve the symptomatology and anatomy of patients with XLRS. The causal relationship between treatment and retinal status is demonstrated, as in our case, with recurrence shortly after discontinuation of treatment. To date, there are no clear references in the literature on further evolution of the disease or whether chronic low dosage treatment would be necessary to avoid relapses. In addition, further studies directed to evaluate possible complications derived from long-term treatment with carbonic anhydrase inhibitors would also be interesting.