Late ophthalmology findings in a X-linked juvenile retinoschisis patient
نویسندگان
چکیده
X-linked juvenile retinoschisis (XLRS) is a vitreoretinal degeneration caused by mutations in the RS1 gene, generally characterized bilateral maculopathy and peripheral leading to progressive visual loss during first 2 decades of life complications like retinal detachment vitreous hemorrhage. Herein, we present late ophthalmology findings XLRS patient. Late patient
منابع مشابه
X-linked Juvenile Retinoschisis
Keywords Diagnostic criteria/definition Synonyms Historical overview Excluded diseases Differential diagnosis Prevalence Clinical description Evolution Treatment Etiology Diagnostic methods Genetics Genetic counseling Prenatal diagnosis References Abstract X-linked retinoschisis is a congenital ocular disease secondary to an abnormal cleavage of the innermost layer of the retina. The frequency ...
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tion. She described distortion without scotoma on the Amsler grid bilaterally (Figure 1C). Examination findings were otherwise normal except for stage 2 papilledema in both eyes (Figure 2D) and moderate enlargement of the physiologic blind spots on automated perimetry in both eyes. The MRI results were normal. Lumbar puncture showed an opening pressure of 410 mm CSF, with normal indices. Result...
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An 18 year-old male with no antecedent of trauma, systemic syndrome or myopia was referred for surgical treatment of a full thickness macular hole in the left eye. A more careful inspection revealed discrete foveal cystic changes in the fellow eye and subtle peripheral depigmented retinal pigment epithelial changes in both eyes. A spectral-domain optical coherence tomography (SD-OCT) scan confi...
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We present the CT and B-scan sonographic findings in an infant with juvenile retinoschisis, a rare hereditary eye disease, which usually follows an X-linked recessive inheritance pattern.
متن کاملCorrelation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis.
PURPOSE X-linked juvenile retinoschisis (XLRS) is one of the most common causes of juvenile macular degeneration in males, characterized by microcystic changes, splitting within the inner retinal layer (schisis), and the presence of vitreous veils. This study was conducted to describe and further correlate specific genetic variation in Spanish patients with XLRS with clinical characteristics an...
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ژورنال
عنوان ژورنال: Revista Brasileira De Oftalmologia
سال: 2021
ISSN: ['0034-7280', '1982-8551']
DOI: https://doi.org/10.5935/0034-7280.20210011