. Author manuscript; available in PMC: 2023 May 24.

Published in final edited form as: Exp Eye Res. 2019 Jun 22;186:107702. doi: 10.1016/j.exer.2019.107702

Table 3.

Features associated with TBK1 mutations.

	Original pedigree with a TBK1 duplication	TBK1 Copy Number Variations in 5 cohorts
Instances of CNVs	NA	2/152	4/334	2/158	1/96	1/252
Ancestry	African American	Caucasian (USA)	Caucaisian (Austrailia)	Asian (India)	Caucasian (U.S.A.)	Asian (Japan)
Inheritance pattern	AD	AD	AD	NA	NA	NA
Prevalence	NA	1.3% of NTG	1.2% of NTG	1.3% of NTG	1% of NTG	0.4% of NTG
CNV type	Duplication	Duplication (1/2) Triplication (1/2)	Duplication (3/4) Triplication (1/4)	Duplication	Duplication	Duplication
Mean age at diagnosis in years	36	29	45	63	47	42
Mean Maximum IOP in mm Hg	18	19	14	16	16	18
References	Fingert et al., 2011	Fingert et al., 2011	Awadalla et al., 2015	Kaurani, 2016	Ritch, 2014	Kawase, 2011

AD: autosomal dominant, NA: Not applicable or not available.