Liang J, et al. - Two subjects, brothers in a family (diagnosed with macular and rod-cone dystrophy) were analyzed to delineate the genetic basis for the incidence of autosomal recessive maculopathy with rod-cone dystrophy. Both candidates were observed with progressive visual impairment and nyctalopia, phenotypically. They noticed macular and choroid dystrophy with pigment deposits in the macular region while the fundus examination. At the functional level, impairment of photoreceptor response to electrophysiological stimulation with a more severe decline in rods was also noted. They found truncated, labile, and mislocalized protein due to c.C1902G(p.Y634X) nonsense mutation with disruption of messenger RNA splicing due to c.C1682+3A>G intronic mutation.