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SR88

SECORD (IA2b)

Female

Female

SR88

SECORD (IA2b)

Female

Female

Visit at age: 16 years

Fundus Photography - Right - 10/100 -1 sc

Exemplar

Fundus Photography - Left - 10/160 -1 sc

Exemplar

Fundus Montage - Right - 10/100 -1 sc

Exemplar

Fundus Montage - Left - 10/160 -1 sc

Exemplar

Goldmann Visual Field - Right - 10/100 -1 sc

Exemplar

Goldmann Visual Field - Left - 10/160 -1 sc

Exemplar

Optical Coherence Tomography - Right - 10/100 -1 sc

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 10/160 -1 sc

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 10/100 -1 sc

Exemplar

Infrared Fundus Photograph - Left - 10/160 -1 sc

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
SECORD	RPE65	IVS1+5 G>A	Arg124Stop CGA>TGA	AR

Disease:

Gene:

Allele 1:

IVS1+5 G>A

Allele 2:

Arg124Stop CGA>TGA

Inheritance:

AR

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