Genotype Phenotype Correlations

The findings of high hyperopia (>+7 DS), severe photophobia, poor vision of count fingers (CF) or light perception (LP) in addition to the presence of early peripheral and macular degeneration with bone spicule pigments in the periphery, disc pallor and vessel attenuation has been suggested by Perrault et al. to be pathognomonic of the GUCY-2D mutation [103]. Other groups have, however, reported LCA patients with GUCY-2D mutations who have no significant photophobia, better visual acuity (20/200), and mild to moderate hyperopia [25].

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