Figure 2 | Scientific Reports

Figure 2

From: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Figure 2

“A priori” and final classification of IRD affected cases. (A) “A priori” classification of IRD families with data obtained from the clinical and family history of the patients, before performing molecular tests: NON-RP (I), RP (II), and syndromic IRD (III), and subclassification according to the inheritance type in case of RP and NON-RP, and type of syndrome in case of syndromic IRD. Data obtained with the clinical and familiar history of the patients, before performing molecular tests. AD Autosomal Dominant, AR autosomal recessive, S sporadic, XL X-linked. (B) Proportion of genetically solved NON-RP, RP, syndromic IRD and total IRD. The diagnostic ratio in the different group of NON-RP and RP by the type of “a priori” inheritance and in the different group of syndromic IRD by type of syndrome is indicated. (C) Genetically solved families. Comparison of inheritance classification before (light gray) and after (dark gray) the molecular study was performed.

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