Ocular anterior segment dysgenesis (ASD) describes a spectrum of clinically and genetically heterogeneous congenital disorders affecting anterior structures that often lead to impaired vision. More importantly, 50-75% of patients with ASD develop early onset and aggressive glaucoma. Although several genes have been implicated in the etiology of ASD, the underlying mechanisms remain elusive. Typ...

AIMS To evaluate ophthalmological findings in children adopted from eastern Europe. METHODS A prospective study on 72/99 children, born 1990-5 and adopted from eastern Europe to western Sweden during 1993-7 was performed. The children (41 boys; mean age 7.5 years) were compared with an age and sex matched reference group ("ref") of Swedish children. RESULTS 78% of the adopted children had a...

BACKGROUND Bilateral optic nerve hypoplasia (BONH) is often associated with other central nervous system midline abnormalities (septo-optic dysplasia). Hormonal dysfunction, caused by anterior (cortisol) and posterior (ADH) pituitary involvement, can be sudden, severe, and life threatening. METHODS Case series. Three cases of septo-optic dysplasia (SOD) presenting as infantile infection with ...

PURPOSE To investigate the optic nerve and macular morphology in patients with optic nerve hypoplasia (ONH) using spectral-domain optical coherence tomography (SD OCT). DESIGN Prospective, cross-sectional, observational study. SUBJECTS A total of 16 participants with ONH (10 female and 6 male; mean age, 17.2 years; 6 bilateral involvement) and 32 gender-, age-, ethnicity-, and refraction-ma...