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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

Fig. 2

Gene defect spectrum involved in cone and cone-rod dystrophies. Gene defect prevalence in resolved patients with autosomal recessive inheritance (N = 42 patients including 20 sporadic cases) and autosomal dominant inheritance (N = 17 patients including 5 sporadic cases). * EYS disease association with CCRD should be taken with caution. ** the implication of ROM1 in IRD remains to be elucidated in the future. *** after clinical reassessment, patient’s phenotype was retrospectively more compatible with ADVIRC diagnosis and not CCRD

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172