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 ...
متن کاملMacular hole in juvenile X-linked retinoschisis.
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...
متن کاملOptical coherence tomographic findings in X-linked juvenile retinoschisis.
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...
متن کاملNovel RS1 mutations associated with X-linked juvenile retinoschisis
To identify mutations in the retinoschisin (RS1) gene in families with X-linked retinoschisis (XLRS). Twenty families with XLRS were enrolled in this study. All six coding exons and adjacent intronic regions of RS1 were amplified by polymerase chain reaction (PCR). The nucleotide sequences of the amplicons were determined by Sanger sequencing. Ten...
متن کاملJuvenile X-linked retinoschisis responsive to intravitreal corticosteroids
Purpose To report the case of an adult male with X-linked retinoschisis (XLRS) who presented with cystoid macular edema (CME) that responded consistently to treatment with intravitreal steroids. Observations A 39 year old male with unilateral presentation of CME after repair of a retinal detachment secondary to XLRS responded initially to an injection of intravitreal triamcinolone acetonide (...
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ژورنال
عنوان ژورنال: Revista Brasileira de Oftalmologia
سال: 2015
ISSN: 0034-7280
DOI: 10.5935/0034-7280.20150049