In case 2, the previously unreported variant in GUCY2D
, associated with autosomal dominant cone-rod dystrophy, was considered as potentially contributing to this phenotype given the cone-rod pattern on AERG and her mother's end stage cone-rod dystrophy phenotype.
RPE65, CRB1, and GUCY2D
were identified as the most prevalent mutated genes in Italian LCA patients  and RHO was reported to be the gene most commonly responsible for ADRP  and EYS the most recurrent for nonsyndromic ARRP and sporadic cases .
Dubis et al., "Imaging cone structure in autosomal dominant cone rod dystrophy caused by GUCY2D
mutations," Investigative Ophthalmology & Visual Science, vol.