. 2022 Jan 13;7:2. doi: 10.1038/s41525-021-00275-9

Table 2.

Prevalence of both TYR p.(Ser192Tyr)/S192Y and p.(Arg402Gln)/R402Q variants in OCA cohorts.

	OCA cohorts with missing heritability (individuals with only 1 TYR pathogenic or likely pathogenic variant identified)								Molecularly diagnosed OCA1 cohorts (individuals with 2 TYR pathogenic or likely pathogenic variant identified)
	This study^a	Hutton & Spritz⁸	Hutton & Spritz¹⁵	Oetting¹⁷	Ghodsinejad Kalahroudi²⁰	Lasseaux²²	Gronskov³¹	Campbell³⁰	Hutton & Spritz¹⁵	Oetting¹⁷	Ghodsinejad Kalahroudi²⁰	Gronskov³¹
Phenotype	Nystagmus and/or albinism	AROA/ mild OCA	OCA	OCA1	OCA1	Nystagmus and/or absence of fovea	Albinism (OCA, AROA or OA)	Nystagmus and at least one other ocular feature of albinism, no skin hypopigmentation	OCA	OCA1	OCA1	Albinism (OCA, AROA or OA)
Country (ethnicity)	England	(Caucasian)	USA, Canada, Northern Europe (non-Hispanic/ Latino Caucasians)	NA	(Iranian)	France	Scandinavia (Scandinavian)	England	USA, Canada, Northern Europe (non-Hispanic/ Latino Caucasians)	NA	(Iranian)	Scandinavia (Scandinavian)
No of the individuals in the cohort	51	20	13	3	6	158	29	4	71	9	19	2
No of individuals hom or het for both TYR S192Y & R402Q	49	1	3	2	0	64	21	4	2	0	0	0
Proportion of study cohort where S192Y/R402Q haplotype is possible	49/51 (96.1%)	1/20 (5%)	3/13 (23.1%)	2/3 (66.7%)	0/6 (0%)	64/158 (40.5%)	21/29 (72.4%)	4/4 (100%)	2/71 (2.8%)	0/9 (0%)	0/19 (0%)	0/2 (0%)
Combined proportion where S192Y/R402Q haplotype is possible					144/284 (50.7%)					2/101 (2.0%)

AROA autosomal recessive ocular albinism, AXD in-house Amish exome database, het heterozygous, hom homozygous, OCA oculocutaneous albinism, OA ocular albinism, no number.

^aThis cohort includes individuals previously reported in Norman et al. and O’Gorman et al.