Abstract
Report the case of a male 28 years-old patient, who was referred to Centro de Estudos e Pesquisas Oculistas Associados – RJ, to retina assessment and presented the tipical findings of the X-Linked Juvenile Retinoschisis: A cystoid maculopathy with formation of foveal cysts and schisis of the peripheral retina. It was carried out the conservative management, with attention to the complications.
Highlights
X -linked juvenile retinoschisis (XJR) is a inherited recessive vitreoretinal degeneration more common in young men characterized by bilateral maculopathy with associated peripheral retinoschisis in 50% of patients.[1,2,3,4,5,6] A prevalence of 1:5000 to 1:28000 is estimated.[1,3]There are descriptions of mutations in the XLRS1 gene[1, 3,7] responsible for coding of retinoschisis - a protein that provides adhesion and interaction among cells and among the retinal layers
The foveal retinoschisis is characterized by the “wagon wheel” standard of radial streaking due to changes in the layer of nerve fibers related to a defect of the Müller cells.[8]. Despite the cystic appearance, the exam of fluorescein angiography does not evidence the progressive extravasation characteristic of cystoid macular edema and contributes to the differential diagnosis between pathologies.[8]. Peripheral retinoschisis predominantly involves the inferior temporal quadrant, often with large detachments of the inner retinal layers
The inferior temporal bilateral presentation is considered the classic pattern of disease, and the most frequent complications and of worst prognosis are vitreous hemorrhage and retinal detachment.[5]
Summary
X -linked juvenile retinoschisis (XJR) is a inherited recessive vitreoretinal degeneration more common in young men characterized by bilateral maculopathy with associated peripheral retinoschisis in 50% of patients.[1,2,3,4,5,6] A prevalence of 1:5000 to 1:28000 is estimated.[1,3]. The foveal retinoschisis is characterized by the “wagon wheel” standard of radial streaking due to changes in the layer of nerve fibers related to a defect of the Müller cells.[8] Despite the cystic appearance, the exam of fluorescein angiography does not evidence the progressive extravasation characteristic of cystoid macular edema and contributes to the differential diagnosis between pathologies.[8] Peripheral retinoschisis predominantly involves the inferior temporal quadrant, often with large detachments of the inner retinal layers These changes of the inner layers of the retina predispose vitreous hemorrhage and retinal detachment.[8]. The exam of optical coherence tomography (OCT) (Figure 4) held in 2011 showed an image of subfoveolar cystic confluence, further changing the fovea architecture and justifying the visual impairment
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