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SR1761

Pattern Dystrophy (IIC)

Male

Male

SR1761

Pattern Dystrophy (IIC)

Male

Male

Visit at age: 62 years

Fundus Photography - Right - 20/20 -2

Exemplar

Fundus Photography - Left - 20/20 -1

Exemplar

Fundus Montage - Right - 20/20 -2

Exemplar

Fundus Montage - Left - 20/20 -1

Exemplar

Optical Coherence Tomography - Right - 20/20 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20 -2

Exemplar

Infrared Fundus Photograph - Left - 20/20 -1

Exemplar

Blue Autofluorescence - Right - 20/20 -2

Exemplar

Blue Autofluorescence - Left - 20/20 -1

Exemplar

Visit at age: 64 years

Fundus Photography - Right - 20/50

Exemplar

Fundus Photography - Left - 20/32 +1

Exemplar

Goldmann Visual Field - Right - 20/50

Exemplar

Goldmann Visual Field - Left - 20/32 +1

Exemplar

Optical Coherence Tomography - Right - 20/50

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/32 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50

Exemplar

Infrared Fundus Photograph - Left - 20/32 +1

Exemplar

Visit at age: 69 years

Optical Coherence Tomography - Right - 20/63

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 5/600

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/63

Exemplar

Infrared Fundus Photograph - Left - 5/600

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Pattern Dystrophy PRPH2 Lys153Glu AAG>GAG   AD
Gene:
Allele 1:
Lys153Glu AAG>GAG
Allele 2:
 
Inheritance:
AD
Cite this case