Table 2 Overview of the genetically solved cohort.

From: Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy

  

Solved cases (n)

Solved cohort (%)

Sex

Female

904

44.40

Male

1132

55.60

Genotyping method

NGS panel-based analysis

1181

58.01

APEX-based microarray

55

2.70

Single-gene testing

587

28.83

Familiar variant analysis

201

9.87

Other (array CGH, MLPA)

12

0.59

Zygosity

Homozygous

455 ‡

22.35

Compound heterozygous

1002 ‡

49.21

Hemizygous

238

11.69

Heterozygous

283

13.90

Heterozygous symptomatic carriers of X-linked forms

16

0.79

Mitochondrial inheritance

42

2.06

  

Number of variants

Fraction of identified variants (%)

Functional category

Missense

1808*

50.75

Nonsense

609

17.10

Frameshift

542

15.22

Splicing site variant

430

12.07

Other (CNV, deep-intronic, small in/del, start/stop-loss)

173

4.86

  1. *ACMG classification of missense variants (according to VarSome, ClinVar, LOVD): 61% Pathogenic, 22% Likely Pathogenic, 17% VUS.
  2. ‡ Homozygosity and compound heterozygosity was confirmed by segregation analysis in 14.1% and 12.1% of cases, respectively.
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