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Table 2 Frequencies of IRD genes across different countries

From: Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies

Genes

USA

UK

France

North Africa

Occurrence and frequencies

ABCA4 (AR)

173 (22.8%)

73 (18.1%)

72 (17.3%)

16 (4.7%)

USH2A (AR)

76 (10%)

61 (15.1%)

59 (14.1%)

9 (2.6%)

RPGR (X-L)

48 (6.3%)

13 (3.2%)

23 (5.5%)

–

RHO (AD/AR)

34 (4.5%)

7 (1.7%)

15 (3.6%)

–

PRPH2 (AD)

32 (4.2%)

6 (1.5%)

20 (4.8%)

1 (0.3%)

EYS (AR)

6 (0.8%)

16 (4%)

–

10 (2.9%)

MYO7A (AR)

8 (1.1%)

8 (2%)

26 (6.2%)

34 (9.9%)

FAM161A (AR)

9 (1.2%)

2 (0.5%)

–

20 (5.8%)

GUCY2D (AR)

4 (0.5%)

4 (1%)

1 (0.2%)

19 (5.6%)

MERTK (AR)

3 (0.4%)

4 (1%)

1 (0.2%)

10 (2.9%)

  1. USA data are from Stone et al., 2017 [221], based on 760 families
  2. UK data are from Carss et al., 2017 [30], based on 404 individuals
  3. French data are from Bocquet et al., 2013 [220], based on 417 individuals
  4. North Africa data are from this review, based on 342 IRD families
  5. Data are provided as the number of families or individuals and with autosomal dominant (AD) or recessive (AR) variants in the gene considered, and their frequency in-between parenthesis within the cohort with a molecular diagnosis
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172