Table 3 A literature review of some mutations in RDH5 gene associated with fundus albipunctatus

c.417G > T

p.Gly139Val

[6]

c.346G > C

p.Gly116Arg

[6]

c.710A > C

p.Tyr237Ser

[6]

c.55A > G

p.Arg19Gly

[6]

c.416G > T

p.Gly139Val

[6]

c.928delCinGAAG

Leu310 to GluVal

[45]

c.500G > A

p.Arg167His

[45, 46]

c.719insG

p.Ala240Glyfs17

[45]

c.175 T > A

p.Cys59Ser

[47]

c.285G > A

p.Trp95Ter

[47]

c.124C.T

p.Arg42Cys

[46]

c.524A > T

p.Tyr175Phe

[48]

c.712G > T

p.Gly238Trp

[14]

c.832C.T

p.Arg278Ter

[42]

c.71_74delTGCC

p.Leu24Profs*36

[49]

c.160C > T

p.Arg54*

[49]

c.382G > A

p.Asp128Asn

[49,50,51]

c.572G > A

p.Arg191Gln

[49]

c.833G > A

p.Arg278Gln

[49]

c.95delT

p.Phe32Serfs*29

[51]

c.625C > T

p.Arg209*

[51]

c.98 T > A

p.Ile33Asn

[52]

c.103G > A

p.Gly35Ser

[25, 26]

c.319G > C

p.Gly107Arg

[25, 27, 53]

c.718dupG

p.Ala240Glyfs*19

[25]

c.394 G > A

p.Val132Met

[25]

c.839G > A

p.Arg280His

[25, 53,54,55]

c.469C > T

p.Arg157Trp

[43]

c.530 T > G

p.Val177Gly

[54]

c.470G > A

p.Arg157Gln

[6, 56]

c.490G > T

p.Val164Phe

[23]

c.500G > A

p.Arg167His

[2]

c.758 T > G

p.Met253Arg

[57]

c.791 T > G

p.Val264Gly

[41]

c.833G > A

p.Arg278Gln

[49]

c.801C > G

p.Cys267Trp

[58]

c.841 T > C

p.Tyr281His

[25]