Table 1 Clinical information of patients with AIPL1 variations: Patients with AIPL1 variations identified on both alleles.

P1

c.116C>A; p.T39N

c.116C>A; p.T39N

LCA

³²

P2

c.214T>C; p.W72R

c.265T>C; p.C89R

LCA

²⁵

P3

c.266G>A; p.C89Y

c.266G>A; p.C89Y

LCA

³³

P4

c.364G>A; p.G122R

c.834G>A; p.W278X

LCA

³⁴

P5

c.364G>A; p.G122R

c.364G>A; p.G122R

RP

This study

P6

c.364G>C; p.G122R

c.834G>A; p.W278X

RP/late onset retinal degeneration

²⁵

P7

c.364G>C; p.G122R

c.834G>A; p.W278X

Mild RP

This study

P8

c.364G>C; p.G122R

c.834G>A; p.W278X

Mild RP

This study

P9

c.582C>G; p.Y194X

c.834G>A; p.W278X

LCA

³⁵

P10*

c.666G>A; p.W222X*

c.834G>A; p.W278X

LCA

This study

P11

c.733G>T; p.E245X

c.834G>A; p.W278X

LCA

³⁵

P12

c.809G>A; p.R270H

c.834G>A; p.W278X

LCA

³⁶

P13

c.809G>A; p.R270H

c.834G>A; p.W278X

LCA

³⁴

P14

c.809G>A; p.R270H

c.834G>A; p.W278X

LCA

³³

P15

c.926_927ins CCTGAACCGCAGGGAGCT; p.E309DinsLNRREL

c.926_927ins CCTGAACCGCAGGGAGCT; p.E309DInsLNRREL

LCA

³⁷

P16

c.1126C>T; p.P376S

c.341C>T; p.T114I

LCA

²⁶

P17

c.1126C>T; p.P376S

c.341C>T; p.T114I

LCA

²³

P18

c.1126C>T; p.P376S

c.341C>T; p.T114I

LCA

²³

P19

c.1126C>T; p.P376S

c.341C>T; p.T114I

EOSRD

LCA

³⁸

P20

c.1126C>T; p.P376S

c.341C>T; p.T114I

EOSRD

³⁹

This study

P21

c.1126C>T; p.P376S

c.1126C>T; p.P376S

EOSRD

³⁹

This study