… MacDonald MD, CM 1 , Laurie Russell MD 2 , Chi-Chao Chan MD 3 … The details of the
histology of this eye have been reported previously (IM MacDonald et al. Abstract No. 1034. …

Stargardt-like macular dystrophy (STGD3, MIM 600110) and autosomal dominant macular
dystrophy (adMD) are inherited forms of macular degeneration characterized by decreased …

Males affected by choroideremia (CHM) experience progressive choroidal and retinal
degeneration, which results in clinical symptoms of varying severity. The classical disease …

Retinitis pigmentosa 1–like 1 (RP1L1) is a component of the photoreceptor cilium. Pathogenic
variants in RP1L1 lead to photoreceptor disease, suggesting an important role for RP1L1 …

purpose. To characterize in detail the disease expression in choroideremia (CHM), a blinding
X-linked disease of the retina caused by loss-of-function mutations in Rab Escort Protein 1 …

Purpose To assess the safety of a recombinant adeno-associated viral vector expressing
REP1 (rAAV2.REP1) in choroideremia subjects. Methods Design: Phase I clinical trial. …

Analyses of saline waters, fracture minerals, and host rocks from seven localities on the
Canadian Shield demonstrate the utility of the 87 Sr 86 Sr ratio in the study of groundwater …

Purpose Missing heritability in human diseases represents a major challenge, and this is
particularly true for ABCA4-associated Stargardt disease (STGD1). We aimed to elucidate the …

Blindness due to retinal degeneration affects millions of people worldwide, but many
disease-causing mutations remain unknown. PNPLA6 encodes the patatin-like phospholipase …

Marked progress has been made over the past 15 years in defining the specific biochemical
defects and underlying molecular mechanisms of oxidative phosphorylation disorders, but …