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SR2345

Pattern Dystrophy (IIC)

Male

Male

SR2345

Pattern Dystrophy (IIC)

Male

Male

Visit at age: 51 years

Fundus Photography - Right - 20/20 +2

Exemplar

Fundus Photography - Left - 20/20 -1

Exemplar

Visit at age: 60 years

Fundus Photography - Right - 20/20 -2

Exemplar

Fundus Photography - Left - 20/40 +1

Exemplar

Fundus Montage - Right - 20/20 -2

Exemplar

Fundus Montage - Left - 20/40 +1

Exemplar

Optical Coherence Tomography - Right - 20/20 -2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 +1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20 -2

Exemplar

Infrared Fundus Photograph - Left - 20/40 +1

Exemplar

Visit at age: 61 years

Optical Coherence Tomography - Right - 20/20

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20

Exemplar

Infrared Fundus Photograph - Left - 20/40 +1

Exemplar

Visit at age: 63 years

Optical Coherence Tomography - Right - 20/25

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25

Exemplar

Infrared Fundus Photograph - Left - 20/40 -1

Exemplar

Blue Autofluorescence - Right - 20/25

Exemplar

Blue Autofluorescence - Left - 20/40 -1

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Pattern Dystrophy PRPH2 Tyr141Cys TAC>TGC   AD
Gene:
Allele 1:
Tyr141Cys TAC>TGC
Allele 2:
 
Inheritance:
AD
Cite this case