Progressive sector retinitis pigmentosa due to c.440G>T mutation in SAG in an Australian family.
Juanita PappalardoRachael C Heath JefferyJennifer A ThompsonJason CharngEnid S ChelvaIan J ConstableTerri L McLarenTina M LameyJohn N De RoachFred K ChenPublished in: Ophthalmic genetics (2020)
SAG adRP presents with a reduced full-field ERG response consistent with a rod-cone dystrophy in mid-life despite a sector RP phenotype. Centripetal progression of the disease into the macula can be tracked by OCT and FAF imaging.