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Table 1 Percentage of symptoms and signs reported by children’s parents in the total population and in the five retinal dystrophy subtypes

From: Early onset retinal dystrophies: clinical clues to diagnosis for pediatricians

 

Nystagmus

Photophobia

Low vision

Total patients (50 patients)

76%

8%

28%

Rod-cone Distrophy (17 patients)

53%

0%

41%

Cone-rod Distrophy (12 patients)

92%

17%

42%

Achromatopsia (13 patients)

100%

8%

0%

CSNB (6 patients)

67%

0%

19%

Leber’s Amaurosis (2 patients)

50%

50%

100%

  1. LCA = Leber’s congenital amaurosis; ACHR = achromatopsia; CSNB = congenital stationary night blindness; CRD = cone-rod dystrophy; RCD = rod-cone dystrophy