SR58

AD Retinitis Pigmentosa (IA1aii)

Female

Female

SR58

AD Retinitis Pigmentosa (IA1aii)

Female

Female

Visit at age: 21 years

Goldmann Visual Field - Right - 20/50

Exemplar

Goldmann Visual Field - Left - 20/60

Exemplar

Visit at age: 47 years

Fundus Photography - Right - 20/125 -1

Exemplar

Fundus Photography - Left - 20/80 +1

Exemplar

Goldmann Visual Field - Right - 20/125 -1

Exemplar

Goldmann Visual Field - Left - 20/80 +1

Exemplar

Visit at age: 49 years

Goldmann Visual Field - Right - 10/125 -2

Exemplar

Goldmann Visual Field - Left - 10/160 -1

Exemplar

Optical Coherence Tomography - Right - 10/125 -2

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 10/160 -1

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 10/125 -2

Exemplar

Infrared Fundus Photograph - Left - 10/160 -1

Exemplar

Visit at age: 51 years

Goldmann Visual Field - Right - 5/140 +1

Exemplar

Goldmann Visual Field - Left - 10/80 +1

Exemplar

Optical Coherence Tomography - Right - 5/140 +1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 10/80 +1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 5/140 +1

Exemplar

Infrared Fundus Photograph - Left - 10/80 +1

Exemplar

Visit at age: 53 years

Fundus Photography - Right - Hand Motion 1' sc

Exemplar

Fundus Photography - Left - 20/200 -3 sc

Exemplar

Fundus Montage - Right - Hand Motion 1' sc

Exemplar

Fundus Montage - Left - 20/200 -3 sc

Exemplar

Goldmann Visual Field - Right - Hand Motion 1' sc

Exemplar

Goldmann Visual Field - Left - 20/200 -3 sc

Exemplar

Optical Coherence Tomography - Right - Hand Motion 1' sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/200 -3 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - Hand Motion 1' sc

Exemplar

Infrared Fundus Photograph - Left - 20/200 -3 sc

Exemplar

Visit at age: 54 years

Goldmann Visual Field - Right - Count Fingers 2' sc

Exemplar

Goldmann Visual Field - Left - 20/200 -3 sc

Exemplar

Optical Coherence Tomography - Right - Count Fingers 2' sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/200 -3 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - Count Fingers 2' sc

Exemplar

Infrared Fundus Photograph - Left - 20/200 -3 sc

Exemplar

Visit at age: 56 years

Goldmann Visual Field - Right - Hand Motion 1'

Exemplar

Goldmann Visual Field - Left - 10/300 +1

Exemplar

Optical Coherence Tomography - Right - Hand Motion 1'

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 10/300 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - Hand Motion 1'

Exemplar

Infrared Fundus Photograph - Left - 10/300 +1

Exemplar

Visit at age: 57 years

Optical Coherence Tomography - Left - 20/600 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Left - 20/600 sc

Exemplar

Visit at age: 57 years (Visit 2)

Optical Coherence Tomography - Right - Hand Motion 1' sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - ~5/300 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - Hand Motion 1' sc

Exemplar

Infrared Fundus Photograph - Left - ~5/300 sc

Exemplar

Visit at age: 58 years

Optical Coherence Tomography - Right - Hand Motion 1'

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 5/300

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - Hand Motion 1'

Exemplar

Infrared Fundus Photograph - Left - 5/300

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD Retinitis Pigmentosa RHO Pro347Ala CCG>GCG   AD
Gene:
Allele 1:
Pro347Ala CCG>GCG
Allele 2:
 
Inheritance:
AD
Cite this case