SR33

Pattern Dystrophy (IIC)

Female

Female

SR33

Pattern Dystrophy (IIC)

Female

Female

Visit at age: 37 years

Fundus Photography - Right - 20/15 -3 sc

Exemplar

Fundus Photography - Left - 20/15 -2 sc

Exemplar

Visit at age: 42 years

Fundus Photography - Right - 20/20 -1 sc

Exemplar

Fundus Photography - Left - 20/20 sc

Exemplar

Fluorescein Angiography - Right - 20/20 -1 sc

Exemplar

Fluorescein Angiography - Left - 20/20 sc

Exemplar

Visit at age: 49 years

Fundus Photography - Right - 20/15 -2

Exemplar

Fundus Photography - Left - 20/15 -2

Exemplar

Fluorescein Angiography - Right - 20/15 -2

Exemplar

Fluorescein Angiography - Left - 20/15 -2

Exemplar

Visit at age: 53 years

Fundus Photography - Right - 20/15 -2 sc

Exemplar

Fundus Photography - Left - 20/15 -1 sc

Exemplar

Visit at age: 57 years

Fundus Photography - Right - 20/20 sc

Exemplar

Fundus Photography - Left - 20/20 sc

Exemplar

Fundus Montage - Right - 20/20 sc

Exemplar

Fundus Montage - Left - 20/20 sc

Exemplar

Visit at age: 59 years

Fundus Photography - Right - 20/20 -2 sc

Exemplar

Fundus Photography - Left - 20/25 sc

Exemplar

Optical Coherence Tomography - Right - 20/20 -2 sc

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/25 sc

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/20 -2 sc

Exemplar

Infrared Fundus Photograph - Left - 20/25 sc

Exemplar

Visit at age: 61 years

Fundus Photography - Right - 20/25 -1 sc

Exemplar

Fundus Photography - Left - 20/30 -1 sc

Exemplar

Optical Coherence Tomography - Right - 20/25 -1 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/30 -1 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 -1 sc

Exemplar

Infrared Fundus Photograph - Left - 20/30 -1 sc

Exemplar

Visit at age: 63 years

Optical Coherence Tomography - Right - 20/20 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 +2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20 -1

Exemplar

Infrared Fundus Photograph - Left - 20/25 +2

Exemplar

Visit at age: 66 years

Optical Coherence Tomography - Right - 20/40 +2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 -1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 +2

Exemplar

Infrared Fundus Photograph - Left - 20/40 -1

Exemplar

Visit at age: 68 years

Optical Coherence Tomography - Right - 20/20 -3

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 -3

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20 -3

Exemplar

Infrared Fundus Photograph - Left - 20/25 -3

Exemplar

Blue Autofluorescence - Right - 20/20 -3

Exemplar

Blue Autofluorescence - Left - 20/25 -3

Exemplar

Visit at age: 70 years

Fundus Photography - Right - 20/20

Exemplar

Fundus Photography - Left - 20/32 +2

Exemplar

Optical Coherence Tomography - Right - 20/20

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/32 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20

Exemplar

Infrared Fundus Photograph - Left - 20/32 +2

Exemplar

Blue Autofluorescence - Right - 20/20

Exemplar

Blue Autofluorescence - Left - 20/32 +2

Exemplar

Teaching Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Pattern Dystrophy PRPH2 Gly167Asp GGC>GAC   AD
Gene:
Allele 1:
Gly167Asp GGC>GAC
Allele 2:
 
Inheritance:
AD
Cite this case