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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations

Fig. 1

Reproduced with permission from Sutherland et al. [18]. This figure highlights the pleiotropic nature of genes implicated in IRDs with 1 gene potentially manifesting as multiple/overlapping phenotypes in different individuals. Likewise, a single phenotype may have multiple genetic aetiologies. (CORD/COD Cone-Rod Dystrophy/Cone Dystrophy, CVD colour vision defects, ERVR/EVR Erosive and exudative vitreoretinopathies, LCA Leber Congenital Amaurosis, MD macular dystrophy, NB night blindness, RP retinitis pigmentosa)

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