Alberto Cuccu

Simultaneous occlusion of three cilioretinal arteries following scleral buckling surgery under local anesthesia

Background Cilioretinal artery (CRA) occlusions are rare in young patients. In these cases, the most commonly associated causes are considered to be the same as those implicated in central retina artery occlusions, such as vasculitic processes, migraine, cardiac disorder, and coagulation abnormality. The aim of this article was to report for the first time the medical records and investigational results of an unusual case of simultaneous occlusion of three CRAs after scleral buckling surgery under local anesthesia. Methods A complete ophthalmic examination, including color fundus image, fundus fluorescein angiography, optical coherence tomography, visual field, as well as systemic and laboratory assessments, was performed. Results A case of contemporaneous blockage of three CRAs after ab externo surgery for retinal detachment in a 29-year-old Caucasian woman was reported. The interdisciplinary approach and the imaging results have allowed us the clinical definition of such a very rare case. Conclusion Here, we reported that optical coherence tomography is an indispensable tool to better delineate the pathological process and follow atrophic changes in the macula, especially in cases in which fundus fluorescein angiography and systemic tests may be poorly informative.

Rebound macular edema following oral acetazolamide therapy for juvenile X-linked retinoschisis in an Italian family

Background Juvenile X-linked retinoschisis (RS1, OMIM: 312700) is a hereditary vitreoretinal dystrophy characterized by bilateral foveal schisis and, in half of the patients, splitting through the nerve fiber layer in the peripheral retina. In the first decade of life, patients usually develop a decrease in visual acuity. Long-term visual outcomes can be poor due to the limited number of known successful treatments. Purpose The purposes of this study were to present, for the first time, a p.Arg197Cys missense mutation in the RS1 gene (OMIM: 300839) in a four-generation Italian family with RS1 and to examine the clinical response to the treatment with acetazolamide tablets alone or in combination with dorzolamide eye drops as assessed by spectral-domain optical coherence tomography (SD-OCT). Methods Eleven individuals, including two brothers with RS1 (patients 1 and 2), underwent a full medical history examination and a comprehensive ocular assessment that involved SD-OCT, fluorescein angiography, electroretinography and DNA analysis. Each RS1 patient received oral acetazolamide (375 mg daily) during the first three months. Thereafter, patient 1 continued only with dorzolamide eyedrops three times a day for a period of three months, while patient 2 spontaneously stopped both medications. Results Sequence analysis of the RS1 gene identified a hemizygous c.589C>T (p.Arg197Cys) missense mutation in exon 6, which has not been previously reported in an Italian family. A different response to the medical therapy was observed in the four eyes of the two affected brothers hemizygous for this abnormality. Of note, after acetazolamide interruption, a rebound effect on cystoid macular edema reduced the beneficial effects of the initial therapy for RS1 from p.Arg197Cys mutation. Indeed, a minimal rebound effect on cystoid macular edema, and an improvement in visual acuity, was observed in patient 1 during the six months of treatment. Conversely, in patient 2, an initial improvement in cystoid macular edema was not associated with visual acuity changes, followed by a marked rebound effect. Conclusion This study showed that the sequential use of acetazolamide tablets and dorzolamide eye drops should be considered and studied further as a possible treatment for macular edema and visual impairment in patients with RS1 from a hemizygous p.Arg197Cys mutation.