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SR54

SECORD (IA2b)

Female

Female

SR54

SECORD (IA2b)

Female

Female

Visit at age: 57 years

Fundus Photography - Right - 20/250 sc

Exemplar

Fundus Photography - Left - 20/250 sc

Exemplar

Goldmann Visual Field - Right - 20/250 sc

Exemplar

Goldmann Visual Field - Left - 20/250 sc

Exemplar

Optical Coherence Tomography - Right - 20/250 sc

Exemplar / OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/250 sc

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/250 sc

Exemplar

Infrared Fundus Photograph - Left - 20/250 sc

Exemplar

Visit at age: 59 years

Fundus Photography - Right - 20/250 sc

Exemplar

Fundus Photography - Left - 20/250 sc

Exemplar

Fundus Montage - Right - 20/250 sc

Exemplar

Fundus Montage - Left - 20/250 sc

Exemplar

Goldmann Visual Field - Right - 20/250 sc

Exemplar

Goldmann Visual Field - Left - 20/250 sc

Exemplar

Optical Coherence Tomography - Right - 20/250 sc

Exemplar / OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/250 sc

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/250 sc

Exemplar

Infrared Fundus Photograph - Left - 20/250 sc

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
SECORD	NMNAT1	Glu257Lys GAG>AAG	Arg207Trp CGG>TGG	AR

Disease:

Gene:

Allele 1:

Glu257Lys GAG>AAG

Allele 2:

Arg207Trp CGG>TGG

Inheritance:

AR

Cite this case