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PURPOSE Enhanced S Cone Syndrome is a rare autosomal recessive disorder characterized clinically by an absence of rod function, a replacement of most L and M cone function by S cone activity (Goldmann-Favre Syndrome) and by variable degrees of retinal degeneration in different families. The causative gene, nuclear receptor subfamily 2, group E, member 3 (NR2E3), controls the developmental seque...

PurposeChoroideremia is an X-linked choroidopathy caused by pathogenic variants in the CHM gene. It characterized early appearance of multiple scotomas peripheral visual field that spread and coalesce, usually sparing central vision until late disease. These features make quantitative monitoring decline particularly challenging. Here we describe a novel computational approach to convert Goldman...