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SR2776

Pattern Dystrophy (IIC)

Female

Female

SR2776

Pattern Dystrophy (IIC)

Female

Female

Visit at age: 42 years

Fundus Photography - Right - 20/30 +1

Exemplar

Fundus Photography - Left - 20/20

Exemplar

Goldmann Visual Field - Right - 20/30 +1

Exemplar

Goldmann Visual Field - Left - 20/20

Exemplar

Visit at age: 42 years (Visit 2)

Fundus Photography - Right - 20/25 -1

Exemplar

Fundus Photography - Left - 20/20

Exemplar

Fundus Montage - Right - 20/25 -1

Exemplar

Fundus Montage - Left - 20/20

Exemplar

Optical Coherence Tomography - Right - 20/25 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 -1

Exemplar

Infrared Fundus Photograph - Left - 20/20

Exemplar

Visit at age: 42 years (Visit 3)

Optical Coherence Tomography - Right - 20/30 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/30 -2

Exemplar

Infrared Fundus Photograph - Left - 20/20

Exemplar

Visit at age: 43 years

Optical Coherence Tomography - Right - 20/30 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/30 -1

Exemplar

Infrared Fundus Photograph - Left - 20/20

Exemplar

Visit at age: 43 years (Visit 2)

Fundus Photography - Right - 20/40

Exemplar

Fundus Photography - Left - 20/15

Exemplar

Goldmann Visual Field - Right - 20/40

Exemplar

Goldmann Visual Field - Left - 20/15

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Pattern Dystrophy PRPH2 Cys214Stop TGC>TGA   AD
Gene:
Allele 1:
Cys214Stop TGC>TGA
Allele 2:
 
Inheritance:
AD
Cite this case