Drusen are discussed frequently in the context of their association with age-related macular
degeneration (AMD). Some types may, however, be regarded as a normal consequence of …

Eye formation is the result of coordinated induction and differentiation processes during
embryogenesis. Disruption of any one of these events has the potential to cause ocular …

Purpose To devise a comprehensive multiplatform genetic testing strategy for inherited
retinal disease and to describe its performance in 1000 consecutive families seen by a …

Insufficient thyroid hormone production in newborns is referred to as congenital
hypothyroidism. Multinodular goiter (MNG), characterized by an enlarged thyroid gland with …

Patient-derived induced pluripotent stem cells (iPSCs) hold great promise for autologous
cell replacement. However, for many inherited diseases, treatment will likely require genetic …

Background Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous
set of disorders, for which diagnostic second-generation sequencing (next-generation …

The identification of the genes underlying monogenic diseases has been of interest to
clinicians and scientists for many years. Using inherited retinal dystrophies as an example of …

Previous models of disease in age-related macular degeneration (AMD) were incomplete in
that they did not encompass subretinal drusenoid deposits (pseudodrusen), subtypes of …

Immunologically-matched, induced pluripotent stem cell (iPSC)-derived photoreceptor
precursor cells have the potential to restore vision to patients with retinal degenerative …

North Carolina macular dystrophy (NCMD) is a rare autosomal-dominant disease affecting
macular development. The disease is caused by non-coding single-nucleotide variants …