Interestingly, variants in ABCA4 were far less frequent in the Chinese cohort reported by Huang et al.28 who reported on NGS screening of 163 patients with cone-rod dystrophy and achieved a 57% detection rate; in their cohort the most frequently mutated gene was CNGA3 (57%, 53/93 solved patients) and ABCA4 variants were identified only in 6/93 (6.5%) patients. The gene discussed is ABCA4; the disease is Cone rod dystrophy.