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SR731

Fundus Albipunctatus (IA2fv)

Female

Female

SR731

Fundus Albipunctatus (IA2fv)

Female

Female

Visit at age: 7 years

Fundus Photography - Right - 20/30 +2

Exemplar

Fundus Photography - Left - 20/30

Exemplar

Visit at age: 8 years

Goldmann Visual Field - Right - 20/20 -2

Exemplar

Goldmann Visual Field - Left - 20/25

Exemplar

Visit at age: 13 years

Goldmann Visual Field - Right - 20/25 -3

Exemplar

Goldmann Visual Field - Left - 20/25 -2

Exemplar

Visit at age: 15 years

Fundus Photography - Right - 20/25 -2

Exemplar

Fundus Photography - Left - 20/30 -2

Exemplar

Fundus Montage - Right - 20/25 -2

Exemplar

Fundus Montage - Left - 20/30 -2

Exemplar

Goldmann Visual Field - Right - 20/25 -2

Exemplar

Goldmann Visual Field - Left - 20/30 -2

Exemplar

Visit at age: 18 years

Goldmann Visual Field - Right - 20/20

Exemplar

Goldmann Visual Field - Left - 20/20

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
Fundus Albipunctatus	RLBP1	Arg9Cys CGC>TGC	Arg9Cys CGC>TGC	AR

Disease:

Fundus Albipunctatus

Gene:

Allele 1:

Arg9Cys CGC>TGC

Allele 2:

Arg9Cys CGC>TGC

Inheritance:

AR

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