open access
Refractory macular edema in X-linked juvenile retinoschisis
- Department of Surgery/Ophthalmology, King Hussein Cancer Center (KHCC), Amman, Jordan
open access
Abstract
X-linked juvenile retinoschisis (XLRS) is one of the most common X-linked inherited, bilateral vitreoretinal dystrophies
affecting males in the first two decades of life. In this article, we present a case report of a young man who
presented with gradual decrease in visual acuity in both eyes that was attributed to macular edema and foveal schisis
in the inner retinal layers. He was investigated by appropriate ocular images which were consistent with a diagnosis
of XLRS. He was treated by anti-vascular endothelial growth factor (anti-VEGF) intravitreal injection, dorzolamide
eye drops and intravitreal steroids injection without improvement.
Abstract
X-linked juvenile retinoschisis (XLRS) is one of the most common X-linked inherited, bilateral vitreoretinal dystrophies
affecting males in the first two decades of life. In this article, we present a case report of a young man who
presented with gradual decrease in visual acuity in both eyes that was attributed to macular edema and foveal schisis
in the inner retinal layers. He was investigated by appropriate ocular images which were consistent with a diagnosis
of XLRS. He was treated by anti-vascular endothelial growth factor (anti-VEGF) intravitreal injection, dorzolamide
eye drops and intravitreal steroids injection without improvement.
Keywords
retinoschisis; macular edema; juvenile; carbonic anhydrase inhibitors; vascular endothelial growth factor
Title
Refractory macular edema in X-linked juvenile retinoschisis
Journal
Issue
Vol 4 (2019): Continuous Publishing
Article type
Case report
Pages
46-48
Published online
2019-07-31
Page views
594
Article views/downloads
806
DOI
Bibliographic record
Ophthalmol J 2019;4:46-48.
Keywords
retinoschisis
macular edema
juvenile
carbonic anhydrase inhibitors
vascular endothelial growth factor
Authors
Rashed Mustafa Nazzal
Robert Rejdak
- Molday RS, Kellner U, Weber BHF. X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms. Prog Retin Eye Res. 2012; 31(3): 195–212.
- Tantri A, Vrabec TR, Cu-Unjieng A, et al. X-linked retinoschisis: a clinical and molecular genetic review. Surv Ophthalmol. 2004; 49(2): 214–230.
- Ansari WH, Browne AW, Singh RP. Juvenile X-linked retinoschisis responsive to intravitreal corticosteroids. Am J Ophthalmol Case Rep. 2017; 5: 48–51.
- Forsius H, Krause U, Helve J, et al. Visual acuity in 183 cases of X-chromosomal retinoschisis. Can J Ophthalmol. 1973; 8(3): 385–393.
- Sikkink SK, Biswas S, Parry NRA, et al. X-linked retinoschisis: an update. J Med Genet. 2007; 44(4): 225–232.
- Hu QR, Huang LZ, Chen XL, et al. Genetic analysis and clinical features of X-linked retinoschisis in Chinese patients. Sci Rep. 2017; 7: 44060.
- Hu QR, Huang LZ, Chen XL, et al. X-Linked Retinoschisis in Juveniles: Follow-Up by Optical Coherence Tomography. Biomed Res Int. 2017; 2017: 1704623.
- Witkin A.J., Duker J.S. Young woman presents with decreasing vision. Ocul Surg News US Ed. 2008. https://www.healio.com/ophthalmology/retina-vitreous/news/print/ocular-surgery-news/%7B120df068-796b-4ef7-9ea5-0ad4335772e8%7D/young-woman-presents-with-decreasing-vision.
- Wang JK, Lin WC. Posterior subtenon injection of triamcinolone acetonide after phacoemulsification in a patient with X-linked retinoschisis. Optom Vis Sci. 2013; 90(10): e274–e277.
- Deshmukh S, Gupta K, Das D, et al. Juvenile X-Linked retinoschisis: Response to topical dorzolamide therapy. TNOA J Ophthal Sci Res. 2018; 56(1): 35.
- Apushkin MA, Fishman GA. Use of dorzolamide for patients with X-linked retinoschisis. Retina. 2006; 26(7): 741–745.
- Ghajarnia M, Gorin MB. Acetazolamide in the treatment of X-linked retinoschisis maculopathy. Arch Ophthalmol. 2007; 125(4): 571–573.
- Coussa RG, Kapusta MA. Treatment of cystic cavities in X-linked juvenile retinoschisis: The first sequential cross-over treatment regimen with dorzolamide. Am J Ophthalmol Case Rep. 2017; 8: 1–3.