نتایج جستجو برای: anophthalmia
تعداد نتایج: 586 فیلتر نتایج به سال:
Anophthalmia or microphthalmia (A/M) is a rare group of congenital/developmental ocular malformations, characterized by absent or small eye within the orbit affecting one or both eyes. It has complex etiology with chromosomal, monogenic with high heterogeneity, and environmental causes. We performed genome SNP-array analysis followed by autozygosity mapping and sequencing in the members o...
PURPOSE The role of SRY-Box 2 (SOX2) in anophthalmia/microphthalmia (A/M) is well known, with 10%-20% of A/M explained by mutations in SOX2. SOX2 plays roles in the development of both the posterior and anterior segment structures of the eye and relies on interactions with tissue-specific partner proteins to execute its function, raising the possibility that SOX2 mutations may result in varying...
IMPORTANCE Microphthalmia, anophthalmia, and coloboma form an interrelated spectrum of congenital eye abnormalities. OBJECTIVE To document the ocular and systemic findings and inheritance patterns in patients with microphthalmia, anophthalmia, and coloboma disease to gain insight into the underlying developmental etiologies. DESIGN, SETTING, AND PARTICIPANTS This retrospective consecutive c...
Four new species of the spider genus Ochyrocera Fage, 1912 are described from iron caves in state Minas Gerais, Brazil. Here we present third anophtalmic and depigmented genus, O. dorinha sp. nov. , three other species: monica magali rosinha Only considered as troglobites due ocular reduction or anophthalmia elongated appendages, two troglomorphic features absent described.
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