Publications by authors named "Tamara Misljenovic Vuceric"
Article Synopsis
- - Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare genetic disorder that's autosomal dominant, linked to developmental delays, intellectual disabilities, and optic atrophy, along with a mix of other symptoms like seizures and autistic behavior, affecting about 1 in 100,000 to 250,000 individuals.
- - The syndrome is caused by mutations in the NR2F1 gene, which is crucial for brain development and cell maturation. Most cases arise spontaneously (de novo), with one known instance linked to gonadal mosaicism.
- - This report introduces two sisters diagnosed with BBSOAS due to a new mutation in the NR2F1 gene, suggesting potential gonadal mosaic
Age-related maculopathy (ARM) is one of the leading causes of central visual acuity loss in older western population. Many factors are responsible for the fast development of ARM. One of this is significant increases of optical radiations through artificial lens after removal of the catarctous lens.
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