TY - JOUR
T1 - Typical and atypical clinical presentations of X-Linked retinoschisis
T2 - A case series and literature review
AU - Wakabayashi, Taku
AU - Chang, Emmanuel
AU - Nudleman, Eric
AU - El-Rayes, Ehab N.
AU - Yonekawa, Yoshihiro
N1 - Funding Information:
J. Arch McNamara Memorial Fund, Wills Eye Foundation, The funding organizations had no role in the design or conduct of the study
Publisher Copyright:
© 2023 Elsevier Inc.
PY - 2023/5/1
Y1 - 2023/5/1
N2 - X-linked retinoschisis (XLRS) is an X-linked inherited retinal dystrophy characterized by mild-to-severe visual impairment, splitting of the retinal layers, and a reduction in the dark-adapted b-wave amplitude on the electroretinogram. Typical clinical features include macular and peripheral schisis. Relatively common features reported include rhegmatogenous or tractional retinal detachment, vitreous hemorrhage, retinal pigment epithelial changes, vitreous veils, and various retinal vascular abnormalities with or without exudation. Macular hole and macular folds are atypical presentations of XLRS, along with several other rare findings. Here, we report 4 cases of XLRS with atypical clinical presentations and review the literature on XLRS, with a focus on the variable clinical features of this condition.
AB - X-linked retinoschisis (XLRS) is an X-linked inherited retinal dystrophy characterized by mild-to-severe visual impairment, splitting of the retinal layers, and a reduction in the dark-adapted b-wave amplitude on the electroretinogram. Typical clinical features include macular and peripheral schisis. Relatively common features reported include rhegmatogenous or tractional retinal detachment, vitreous hemorrhage, retinal pigment epithelial changes, vitreous veils, and various retinal vascular abnormalities with or without exudation. Macular hole and macular folds are atypical presentations of XLRS, along with several other rare findings. Here, we report 4 cases of XLRS with atypical clinical presentations and review the literature on XLRS, with a focus on the variable clinical features of this condition.
KW - Macular folds
KW - Macular hole
KW - Macular retinoschisis
KW - Peripheral schisis
KW - Rhegmatogenous retinal detachment
KW - Traction retinal detachment
KW - Vacular abnormalities
KW - Vitreous hemorrhage
KW - X-linked retinoschisis
KW - Electroretinography
KW - Vitreous Hemorrhage
KW - Tomography, Optical Coherence
KW - Humans
KW - Retina
KW - Retinoschisis/diagnosis
KW - Retinal Detachment
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U2 - 10.1016/j.survophthal.2023.01.008
DO - 10.1016/j.survophthal.2023.01.008
M3 - Review article
C2 - 36724832
AN - SCOPUS:85148768827
SN - 0039-6257
VL - 68
SP - 347
EP - 360
JO - Survey of Ophthalmology
JF - Survey of Ophthalmology
IS - 3
ER -