Loading...

SR68

AD Retinitis Pigmentosa (IA1aii)

Female

Female

SR68

AD Retinitis Pigmentosa (IA1aii)

Female

Female

Visit at age: 52 years

Fundus Photography - Right - 20/20 -1

Exemplar

Fundus Photography - Left - 20/20

Exemplar

Goldmann Visual Field - Right - 20/20 -1

Exemplar

Goldmann Visual Field - Left - 20/20

Exemplar

Visit at age: 54 years

Goldmann Visual Field - Right - 20/20

Exemplar

Goldmann Visual Field - Left - 20/20 -2

Exemplar

Visit at age: 57 years

Fundus Photography - Right - 20/20

Exemplar

Fundus Photography - Left - 20/20

Exemplar

Fundus Montage - Right - 20/20

Exemplar

Fundus Montage - Left - 20/20

Exemplar

Goldmann Visual Field - Right - 20/20

Exemplar

Goldmann Visual Field - Left - 20/20

Exemplar

Visit at age: 59 years

Fundus Photography - Right - 20/15

Exemplar

Fundus Photography - Left - 20/30 -1

Exemplar

Fundus Montage - Right - 20/15

Exemplar

Fundus Montage - Left - 20/30 -1

Exemplar

Visit at age: 62 years

Goldmann Visual Field - Right - 20/25 -3

Exemplar

Goldmann Visual Field - Left - 20/25 +1

Exemplar

Optical Coherence Tomography - Right - 20/25 -3

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 +1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 -3

Exemplar

Infrared Fundus Photograph - Left - 20/25 +1

Exemplar

Visit at age: 71 years

Fundus Photography - Right - 20/20

Exemplar

Fundus Photography - Left - 20/20

Exemplar

Fundus Montage - Right - 20/20

Exemplar

Fundus Montage - Left - 20/20

Exemplar

Goldmann Visual Field - Right - 20/20

Exemplar

Goldmann Visual Field - Left - 20/20

Exemplar

Optical Coherence Tomography - Right - 20/20

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20

Exemplar

Infrared Fundus Photograph - Left - 20/20

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD Retinitis Pigmentosa RHO Gly106Arg GGG>AGG   AD
Gene:
Allele 1:
Gly106Arg GGG>AGG
Allele 2:
 
Inheritance:
AD
Cite this case