Use of topical dorzolamide for patients with X-linked juvenile retinoschisis: case report
نویسندگان
چکیده
منابع مشابه
Use of topical dorzolamide for patients with X-linked juvenile retinoschisis: case report.
X-linked juvenile retinoschisis (XLRS) is a recessively inherited vitreoretinal degeneration characterized by macular pathology and splitting of the neuroretinal layers that is associated with alterations in the XLRS1 gene. There have been no therapeutic interventions known to be effective for patients with X-linked juvenile retinoschisis, but some studies are trying to determine the importance...
متن کاملX-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 کاملDramatic regression of macular and peripheral retinoschisis with dorzolamide 2 % in X-linked retinoschisis: a case report
BACKGROUND X-linked retinoschisis is one of the more frequently encountered inherited macular retinal disorders affecting young males, causing loss of vision. Patients exhibit macular schisis and peripheral schisis, which can mimic retinal detachment, a very different entity that requires surgical intervention. CASE PRESENTATION An 8-month-old African-American boy was presented to our hospita...
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 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 کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Arquivos Brasileiros de Oftalmologia
سال: 2008
ISSN: 0004-2749
DOI: 10.1590/s0004-27492008000200030