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SR302

SECORD (IA2b)

Female

Female

SR302

SECORD (IA2b)

Female

Female

Visit at age: 6 years

Fundus Photography - Right - 20/80

Exemplar

Fundus Photography - Left - 20/63

Exemplar

Fundus Montage - Right - 20/80

Exemplar

Fundus Montage - Left - 20/63

Exemplar

Goldmann Visual Field - Right - 20/80

Exemplar

Goldmann Visual Field - Left - 20/63

Exemplar

Visit at age: 7 years

Goldmann Visual Field - Right - 20/80 -1

Exemplar

Goldmann Visual Field - Left - 20/80 -1

Exemplar

Optical Coherence Tomography - Right - 20/80 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/80 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/80 -1

Exemplar

Infrared Fundus Photograph - Left - 20/80 -1

Exemplar

Visit at age: 9 years

Goldmann Visual Field - Right - 20/80 -2

Exemplar

Goldmann Visual Field - Left - 20/80 -2

Exemplar

Optical Coherence Tomography - Right - 20/80 -2

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/80 -2

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/80 -2

Exemplar

Infrared Fundus Photograph - Left - 20/80 -2

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
SECORD CEP290 IVS26+1655 A>G IVS26+1655 A>G AR
Disease:
Gene:
Allele 1:
IVS26+1655 A>G
Allele 2:
IVS26+1655 A>G
Inheritance:
AR
Cite this case