CACD is a special form of IRD that mainly affects the maculae and is characterized by a well-defined atrophic region of retinal pigment epithelium (RPE) and choriocapillaris at the latest stage.7,8,9 Before our study, mutations in two other genes, peripherin-2 (PRPH2; MIM 179605) and GUCY2D, were implicated in CACD etiology.8,10,11,12 We also found that diverse pathogenic mechanisms of GUCA1A mutations might correlate with the phenotypic diversity of IRDs. This evidence concerns the gene PRPH2 and respiratory distress syndrome in premature infants.