Table 3 Pathogenic variants of 28 eoHM probands:RP, Retinitis pigmentosa; CSNB,congenital stationary night blindness;GA, gyrate atrophy of the choroid and retina; FEVR, Familial exudative vitreoretinopathy; eoHM,early-onset high myopia; LCA, Leber congenital amaurosis.

F1

chr1:216052432

c.8232G > C

p.Trp2744Cys

USH2A

Missense

Compound heterozygous

RP

chr1:216172258

c.6628C > G

p.Pro2210Ala

Missense

F2

chr12:48379984

c.1527 + 135G > A

NA

COL2A1

Intronic

Heterozygous

Stickler syndrome

F3

chr12:48369108

c.3878G > A

p.Trp1293Ter

COL2A1

Nonsense

Heterozygous

Stickler syndrome

F4

chrX:38145846–38145847

c.2405_2406del

p.Glu802GlyfsTer32

RPGR

Frameshift

Hemizygous

eoHM

F5

chr12:48367270

c.4384A > G

p.Ile1462Val

COL2A1

Missense

Heterozygous

Stikler syndrome

F6

chrX:49088170

c.245G > A

p.Arg82Gln

CACNA1F

Missense

Hemizygous

CSNB

F7

chrX:38146014

c.2234_2237del

p.Arg745fs

RPGR

Frameshift

Hemizygous

eoHM

F8

chr10:126092416

c.C722T

p.Pro241Leu

OAT

Missense

Homozygous

GA

F9

chr20:10620246

c.3557C > A

p.Pro1186His

JAG1

Missense

Homozygous

eoHM

F10

chr9:137710529

c.4258G > A

p.Gly1420Arg

COL5A1

Missense

Heterozygous

eoHM

F11

chr5:131544983

c.751G > A

p.Glu251Lys

P4HA2

Missense

Heterozygous

eoHM

F12

chrX: 24757572

c.2103 T > G

p.Ile701Met

POLA1

Missense

Hemizygous

eoHM

F13

chr1:103487274

c.1333G > C

p.Val445Leu

COL11A1

Missense

Heterozygous

Stikler syndrome

F14

chr4:629741

c.694G > A

p.Glu232Lys

PDE6B

Missense

Compound heterozygous

RP

chr4:658738

c.2193 + 5G > A

NA

Splicing

F15

chrX:246713321

c.513G > A

p.Trp171Ter

RP2

Nonsense

Hemizygous

RP

F16

chr12:48372457

c.2818C > T

p.Arg940Ter

COL2A1

Nonsense

Heterozygous

Stikler syndrome

F17

chr20:62614494

c.166G > A

p.Val56Ile

PRPF6

Missense

Heterozygous

RP

F18

chr6:66204718

c.586A > C

p.Lys196Gln

EYS

Missense

Compound Heterozygous

RP

chr6:65336093

c.3489 T > A

p.Asn1163Lys

Missense

F19

chr16:75579723

c.438 + 1G > C

NA

TMEM231

Splicing

Compound Heterozygous

eoHM

chr16:75579737

c.425C > G

p.Ser142Cys

Missense

F20

chr14:57268599

c.748G > A

p.Gly250Arg

OTX2

Missense

Heterozygous

eoHM

F21

chr9:124079400

c.G943A

p.Val315Met

GSN

Missense

Heterozygous

eoHM

F22

chr10:71060618

c.27 + 1G > A

NA

HK1

Splicing

Heterozygous

eoHM

F23

chr7:120450533

c.452A > T

p.Asn151Ile

TSPAN12

Missense

Heterozygous

FEVR

F24

chr5:110441840

c.1346C > T

p.Ala449Val

WDR36

Missense

Heterozygous

Rod-cone dystrophies

F25

chr12:48373317

c.2710C > T

p.Arg904Cys

COL2A1

Missense

Heterozygous

Stikler syndrome

F26

chr1:103453242

c.2485G > A

p.Gly829Ser

COL11A1

Missense

Heterozygous

Stikler syndrome

F27

chr22:25603093

c.550T > C

p.Trp184Arg

CRYBB3

Missense

Heterozygous

eoHM

F28

chr17:6329030

c.905G > T

p.Arg302Leu

AIPL1

Missense

Heterozygous

Rod-cone dystrophies,

keratoconus