Publications by authors named "N S Kokoeva"
Article Synopsis
- A 14-year-old patient with RDH5 mutations was diagnosed with fundus albipunctatus, exhibiting known and novel genetic changes in the RDH5 gene.
- The patient's visual acuity was perfect (20/20), but they experienced nyctalopia and abnormal electroretinogram (ERG) results, indicating issues with both scotopic and photopic vision.
- Imaging techniques revealed characteristic fuzzy autofluorescence patterns and thickening in the photoreceptor outer segment, corresponding to the observed retinal flecks.
Aim: To develop a comprehensive classification system of distinctive clinical and anatomical features of congenital microphthalmia and anophthalmia in children and to specify indications, contraindications, and optimal timing of the primary and subsequent prosthetic treatment.
Material And Methods: A total of 70 patients with congenital micro- or anophthalmia aged from 1 month to 12 years were examined. Besides the routine ophthalmic examination, all patients underwent eye and orbit ultrasound (axial length measurement and B-scan), computed tomography of the orbits and skull, and immunological tests for infectious diseases (enzyme-linked immunosorbent assays).