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SR43

SECORD (IA2b)

Female

Female

SR43

SECORD (IA2b)

Female

Female

Visit at age: 21 months

Fundus Photography - Right - 20/150 +1

Exemplar

Fundus Photography - Left - 20/250

Exemplar

Visit at age: 2 years

Fundus Photography - Right - 20/125 sc

Exemplar

Fundus Photography - Left - 20/125 sc

Exemplar

Fundus Montage - Right - 20/125 sc

Exemplar

Fundus Montage - Left - 20/125 sc

Exemplar

Visit at age: 5 years

Optical Coherence Tomography - Right - 20/200

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/200

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/200

Exemplar

Infrared Fundus Photograph - Left - 20/200

Exemplar

Visit at age: 6 years

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

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 10/125 -1 sc

Exemplar / OCT Stack

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

Exemplar

Infrared Fundus Photograph - Left - 10/125 -1 sc

Exemplar

Visit at age: 7 years

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

Exemplar

Goldmann Visual Field - Left - 10/125 -1 sc

Exemplar

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

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 10/125 -1 sc

Exemplar / OCT Stack
OCT Stack

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

Exemplar

Infrared Fundus Photograph - Left - 10/125 -1 sc

Exemplar

Visit at age: 8 years

Fundus Photography - Right - 10/100 -2 sc

Exemplar

Fundus Photography - Left - 10/125 -1 sc

Exemplar

Goldmann Visual Field - Right - 10/100 -2 sc

Exemplar

Goldmann Visual Field - Left - 10/125 -1 sc

Exemplar

Optical Coherence Tomography - Right - 10/100 -2 sc

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 10/125 -1 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 10/100 -2 sc

Exemplar

Infrared Fundus Photograph - Left - 10/125 -1 sc

Exemplar

Visit at age: 9 years

Goldmann Visual Field - Right - 10/100 +2 sc

Exemplar

Goldmann Visual Field - Left - 10/100 -2 sc

Exemplar

Optical Coherence Tomography - Right - 10/100 +2 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 10/100 -2 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 10/100 +2 sc

Exemplar

Infrared Fundus Photograph - Left - 10/100 -2 sc

Exemplar

Visit at age: 11 years

Goldmann Visual Field - Right - 10/100 -1

Exemplar

Goldmann Visual Field - Left - 10/200

Exemplar

Optical Coherence Tomography - Right - 10/100 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 10/200

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 10/100 -1

Exemplar

Infrared Fundus Photograph - Left - 10/200

Exemplar

Visit at age: 14 years

Goldmann Visual Field - Right - 5/160

Exemplar

Goldmann Visual Field - Left - 5/200

Exemplar

Optical Coherence Tomography - Right - 5/160

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 5/200

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 5/160

Exemplar

Infrared Fundus Photograph - Left - 5/200

Exemplar

Blue Autofluorescence - Right - 5/160

Exemplar

Blue Autofluorescence - Left - 5/200

Exemplar

Visit at age: 16 years

Fundus Photography - Right - 5/250

Exemplar

Fundus Photography - Left - 5/500

Exemplar

Goldmann Visual Field - Right - 5/250

Exemplar

Goldmann Visual Field - Left - 5/500

Exemplar

Optical Coherence Tomography - Right - 5/250

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 5/500

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 5/250

Exemplar

Infrared Fundus Photograph - Left - 5/500

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
SECORD RDH12 Ala269 del5tgcGCCCT Ala269 del5tgcGCCCT AR
Disease:
Gene:
Allele 1:
Ala269 del5tgcGCCCT
Allele 2:
Ala269 del5tgcGCCCT
Inheritance:
AR
Cite this case