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Table 1 Clinical characteristics of patients with choroideremia

From: Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses

Subjects

Age/onset

BCVA (R/L)

Refractive error (R/L)

MD (R/L, dB)

ERG

F1

67/65

0.5/0.5

−2.25/− 3.0

13.92/17.95

Profoundly attenuated rod ERGs, subnormal and delayed cone ERGs

F2

61/0

LP/LP

–

–

–

F3

28/18

0.6/0.5

−4.25/−5.0

28.1/27.2

Undetectable

F4

56/27

0.12/HM

−3.5/−3.0

33.6/33.9

Undetectable

F5

26/5

0.7/0.6

−8.0/−6.5

31.1/32.8

Undetectable

F6

34/0

0.6/0.8

−6.0/−5.0

32.4/32.13

Undetectable

F7

30/15

0.6/0.6

−2.5/−3.25

21.2/22.2

Undetectable

  1. All patients were male. Abbreviations: BCVA best corrected visual acuity, R right, L left, -: unavailable, LP light perception, HM hand moving, MD mean deviation, ERG electroretinography.
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BMC Ophthalmology

ISSN: 1471-2415

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