Table 1 Summary of all reported ALDH1A3 variants associated with anophthalmia and microphthalmia

Missense

c.211G > A

p. Val71Met

Israeli

AM

Mory et al. [15]

c.265C > T

p. Arg89Cys

Pakistani

AM

Fares-Taie et al. [6]

c.287G > A

p.Arg96His

Chinese

A

Liu et al. [21]

c.434C > T

p. Ala145Val

Saudi Arabian

M

Aldahmesh et al. [14]

c.521G > A

p.Cys174Tyr

Lebanese

AM

Roos et al. [16]

c.709G > A

p.Gly237Arg

Chinese & Iranian

A

Liu et al. [21]; Dehghani et al. [19]

c.845G > C

p.Gly282Ala

Arabic

M

Alabdullatif et al. [20]

c.964G > A

p.Val322Met

Indian

A

Ullah et al. [3]

c.1064C > G

p.Pro355Arg

Egyptian

A

Abouzeid et al. [17].

c.1105A > T

p. Ile369Pro

Saudi Arabian

M

Aldahmesh et al. [14]

c.1144G > A

p.Gly382Arg

Egyptian

A

Abouzeid et al. [17]

c.1231G > A

p.Glu411Lys

Sri Lankan

M

Abouzeid et al. [17]

c.1398C > A

p.Asn466Lys

Turkish

AM

Semerci et al. [18]

c.1477G > C

p. Ala493Pro

Turkish

AM

Fares-Taie et al. [6]

c. 1240G > C

p.Gly414Arg

Pakistani

A

Present study

Nonsense

c.568A > T

p.Lys190

Egyptian

AM

Yahyavi et al. [5]

c.898G > T

p.Glu300

Spanish

M

Abouzeid et al. [17]

c.1165A > T

p.Lys389

Hispanic

AM

Yahyavi et al. [5]

Splicing

c.204 + 1G > A

Alteration of the WT donor site

affecting splicing

Egyptian

AM

Abouzeid et al. [17]

c.475 + 1G > T

Skipping of exon 5

p. Asp159-Pro179 del

Moroccan

AM

Fares-Taie et al. [6]

c.666G > A

Skipping of exon 6

p.Trp180_Glu222del

Turkish

AM

Semerci et al. [18]

Plaisancié et al. [13]

c.1391 + 1G > T

Alteration of the WT donor site

affecting splicing

Egyptian

A

Abouzeid et al. [17]

Frameshift

c.1310_1311delAT

p.Tyr437Trpfs*44

Pakistani

A

Ullah et al. [3]

c.172dup

p. Glu58Glyfs*5

Pakistani

A

Present study