Genes related to inherited microphthalmia and anophthalmia
نویسندگان
چکیده
منابع مشابه
Anophthalmia and microphthalmia
Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. The combined birth prevalence of these conditions is up to 30 per 100,000 population, with microphthalmia reported in up to 11% of blind children. High-resolution cranial imaging, post-mortem examination and genetic studies suggest that these conditions represent a phe...
متن کاملCongenital anophthalmia and microphthalmia: epidemiology and orbitofacial rehabilitation
OBJECTIVE To describe the prevalence of congenital anophthalmia and microphthalmia in Hospital Universitario La Paz, and to identify associated risk factors and evaluate cosmetic results in treated and nontreated patients. METHODS A retrospective, descriptive, cross-sectional study of patients treated with orbital expanding techniques (cases) and nontreated patients (controls) was carried out...
متن کاملAbsence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma.
PURPOSE To investigate whether 173 patients with microphthalmia, anophthalmia, and coloboma have mutations in the eye-development gene SIX6. METHODS The two exons of the SIX6 gene were amplified by PCR from patients' genomic DNA and directly sequenced to search for mutations. The PCR products of 75 patients were also analyzed by denaturing high-performance liquid chromatography (DHPLC). RES...
متن کاملGeographical variation in anophthalmia and microphthalmia in England, 1988-94.
OBJECTIVE To investigate the geographical variation and clustering of congenital anophthalmia and microphthalmia in England, in response to media reports of clusters. DESIGN Comparison of pattern of residence at birth of cases of anophthalmia and microphthalmia in England in 1988-94, notified to a special register, with pattern of residence of all births. Three groups studied included all cas...
متن کاملIdentification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia
PURPOSE Mutations in the SOX2 and CHX10 genes have been reported in patients with anophthalmia and/or microphthalmia. In this study, we evaluated 34 anophthalmic/microphthalmic patient DNA samples (two sets of siblings included) for mutations and sequence variants in SOX2 and CHX10. METHODS Conformational sensitive gel electrophoresis (CSGE) was used for the initial SOX2 and CHX10 screening o...
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ژورنال
عنوان ژورنال: Gaceta de M�xico
سال: 2019
ISSN: 0016-3813
DOI: 10.24875/gmm.m18000089