Juvenile retinoschisis: imaging findings.
نویسندگان
چکیده
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.
منابع مشابه
Assessment of Spectral-Domain Optical Coherence Tomography Findings in Three Cases of X-Linked Juvenile Retinoschisis in the Same Family
X-linked juvenile retinoschisis (XLRS) is an X-linked hereditary retinal dystrophy characterized by splitting of the neurosensory retina. On fundus examination, the macula often has a spoke wheel appearance with foveal cystic lesions, and separation of the retinal layers is typical on spectral-domain optical coherence tomography (SD-OCT). Patients with XLRS can exhibit different clinical course...
متن کاملTwo cases of X-linked retinoschisis with different spectral domain optical coherence tomography findings
Spectral domain optical coherence tomography was used to image the maculae of two brothers who had the diagnosis of X-linked retinoschisis maculopathy. One patient demonstrated a large foveal cyst in one eye and a lamellar macular hole in the fellow eye. The second patient demonstrated small retinal cysts in multiple layers of the retina. Spectral domain optical coherence tomography allowed hig...
متن کاملR213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family
PURPOSE We identified a large Chinese family with X-linked juvenile retinoschisis. The purpose of this study was to report the clinical findings of the family and to identify the genetic mutation by screening the retinoschisis 1 (RS1) gene. METHODS Family history was collected and all family members underwent routine ophthalmic examination. Venous blood was collected from family members and g...
متن کاملEn face swept-source optical coherence tomographic analysis of X-linked juvenile retinoschisis
Purpose To clarify the area of retinoschisis by X-linked juvenile retinoschisis (XLRS) using swept-source optical coherence tomography (SS-OCT) en face images. Observations We report two cases of XLRS in the same family. The patients presented with bilateral blurred vision. The posterior segment examination showed a spoked-wheel pattern in the macula. SS-OCT cross-sectional images revealed wi...
متن کاملUse 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...
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ورودعنوان ژورنال:
- AJNR. American journal of neuroradiology
دوره 20 6 شماره
صفحات -
تاریخ انتشار 1999