Presumed X-Linked Retinoschisis in a 3-Month-Old Baby Girl: A Case Report
Hanieh Fakhredin1, Esmaeil Asadi Khameneh1, Shahin Faghihi1
1Vitreoretinal Department of Ophthalmology, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran, tums.ac.ir.
Purpose:
The purpose of the study is to report a 3-month-old Iranian baby girl presenting with bilateral macular and peripheral retinoschisis with a probable diagnosis of X-linked retinoschisis (XLRS).
Methods:
The baby underwent an ophthalmic examination under general anesthesia revealing bilateral vitreous hemorrhage, spoke-wheel pattern radiating from the fovea, and severe bullous peripheral retinal elevation. We performed indirect scatter laser photocoagulation with a few spots, which showed a positive response confirming the diagnosis of retinoschisis over rhegmatogenous retinal detachment. Spectral-domain optical coherence tomography (SD-OCT) and intraoperative fluorescein angiography (FA) were also performed to enhance the diagnostic evaluation.
Results:
Based on comprehensive clinical examinations and imaging findings, XLRS was determined to be the most likely diagnosis.
Conclusion:
This case highlights the importance of including retinoschisis, with possible X-linked inheritance, in the differential diagnosis of bilateral schisis and vitreous hemorrhage in female infants. Although the XLRS phenotype is rare in the female population, it appears to be more severe and manifests at an earlier age. Genetic confirmation is needed to determine the exact etiology.
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