PMID- 27932860
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20200929
IS  - 1177-5467 (Print)
IS  - 1177-5483 (Electronic)
IS  - 1177-5467 (Linking)
VI  - 10
DP  - 2016
TI  - Rebound macular edema following oral acetazolamide therapy for juvenile X-linked 
      retinoschisis in an Italian family.
PG  - 2377-2382
AB  - 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.
FAU - Galantuomo, Maria Silvana
AU  - Galantuomo MS
AD  - Department of Surgical Sciences, Eye Clinic, University of Cagliari, Cagliari, 
      Italy.
FAU - Fossarello, Maurizio
AU  - Fossarello M
AD  - Department of Surgical Sciences, Eye Clinic, University of Cagliari, Cagliari, 
      Italy.
FAU - Cuccu, Alberto
AU  - Cuccu A
AD  - Department of Surgical Sciences, Eye Clinic, University of Cagliari, Cagliari, 
      Italy.
FAU - Farci, Roberta
AU  - Farci R
AD  - Department of Surgical Sciences, Eye Clinic, University of Cagliari, Cagliari, 
      Italy.
FAU - Preising, Markus N
AU  - Preising MN
AD  - Department of Ophthalmology, Faculty of Medicine, Justus-Liebig-University, 
      Giessen, Germany.
FAU - Lorenz, Birgit
AU  - Lorenz B
AD  - Department of Ophthalmology, Faculty of Medicine, Justus-Liebig-University, 
      Giessen, Germany.
FAU - Napoli, Pietro Emanuele
AU  - Napoli PE
AD  - Department of Surgical Sciences, Eye Clinic, University of Cagliari, Cagliari, 
      Italy.
LA  - eng
PT  - Journal Article
DEP - 20161125
PL  - New Zealand
TA  - Clin Ophthalmol
JT  - Clinical ophthalmology (Auckland, N.Z.)
JID - 101321512
PMC - PMC5135400
OTO - NOTNLM
OT  - cystoid macular edema
OT  - foveal zone thickness
OT  - juvenile X-linked retinoschisis
OT  - macular schisis
OT  - oral acetazolamide
OT  - topical dorzolamide
COIS- The authors report no conflicts of interest in this work.
EDAT- 2016/12/10 06:00
MHDA- 2016/12/10 06:01
PMCR- 2016/11/25
CRDT- 2016/12/10 06:00
PHST- 2016/12/10 06:00 [entrez]
PHST- 2016/12/10 06:00 [pubmed]
PHST- 2016/12/10 06:01 [medline]
PHST- 2016/11/25 00:00 [pmc-release]
AID - opth-10-2377 [pii]
AID - 10.2147/OPTH.S114568 [doi]
PST - epublish
SO  - Clin Ophthalmol. 2016 Nov 25;10:2377-2382. doi: 10.2147/OPTH.S114568. eCollection 
      2016.