نتایج جستجو برای: coloboma
تعداد نتایج: 879 فیلتر نتایج به سال:
BACKGROUND Renal coloboma syndrome (RCS) is characterized by renal anomalies and optic nerve colobomas. PAX2 mutations contribute to RCS. However, approximately half of the patients with RCS have no mutation in PAX2 gene. METHODS To investigate the incidence and effects of mutations of PAX2 and 25 candidate genes, patient genes were screened using next-generation sequence analysis, and candid...
BACKGROUND Congenital macular coloboma is a rare ocular disease that consists of atrophic lesions in the macula with well-circumscribed borders. We report the findings of spectral domain optical coherence tomography (SD-OCT) at the fixation point in a case of bilateral macular coloboma. CASE REPORT The subject is a 4-year-old boy. He visited our hospital at age 1 year and 4 months for the eva...
c d Konstantinos Spengos, MD, FESO Department of Neurology, University of Athens Vas. Sofias 82 GR–11528 Athens (Greece) Tel. +30 6946 466 216, Fax +30 210 674 2604 E-Mail [email protected] 3 Lenhart PD, Lambert SR, Newman NJ, et al: Intracranial vascular anomalies in patients with morning glory disk anomaly. Am J Ophthalmol 2006; 142: 644–650. 4 Krishnan C, Roy A, Traboulsi E: Morning glory disk ...
AIM To describe lesions resembling optic disc duplication and highlight their unusual visual fields. The authors also report the first case of pseudo-duplication of the optic disc with overlying retinal nerve fibre layer. METHODS Retrospective, non-comparative review of case notes. Humphrey visual fields and OCT-3 imaging were performed. RESULTS All 11 cases represented peripapillary chorio...
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