Specifically, Sanger sequencing of ABCA4, PRPH2/RDS-peripherin, and ELOVL4 was negative except for Proband 1, who had a heterozygous ABCA4 missense variant (c.2588G>C; p.Gly863Ala) and no family history of Stargardt disease or cone-rod dystrophy
. This substitution has been previously reported as disease-causing (rs76157638; HGMD ID CS024003), but not associated with pericentral retinal degeneration (PRD) [29-32].
Thiamine responsive megaloblastic anemia with cone-rod dystrophy
. Optha Gen 2000; 21: 243-250.
Ziccardi et al., "Early detection of central visual function decline in cone-rod dystrophy
by the use of macular focal cone electroretinogram," Investigative Ophthalmology and Visual Science, vol.
However, they have also been shown to be 7 [micro]m and more in eyes with cone-rod dystrophy
Zonneveld et al., "Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy
and Stargardt disease," Molecular Vision, vol.