Latest Contribution
Bardet Biedl refractive error
This is a retrospective cross-sectional study of 45 patients with genetically diagnosed Bardet Biedl syndrome. Patients with biallelic defects in any gene known to cause Bardet Biedl syndrome were eligible for inclusion. Patients underwent cycloplegic refraction and keratometry. The mean...
Choroideremia in women
The authors report a questionnaire-based study of female carriers of choroideremia, an X-linked inherited chorioretinal dystrophy. As an X-linked condition the full clinical features are predominantly seen in men but a proportion of women suffer some morbidity, likely due to...
PAX6 methylation and myopia
The authors present a case control study of 41 adolescents (age 12–14) with myopia and 39 age- and sex-matched non-myopic controls. The myopic patients were sub-divided into mild, moderate and severe myopia subgroups. DNA was extracted from peripheral blood samples...
