SR269

Pattern Dystrophy (IIC)

Male

Male

SR269

Pattern Dystrophy (IIC)

Male

Male

Visit at age: 32 years

Fundus Photography - Right - 20/40

Exemplar

Fundus Photography - Left - 20/20

Exemplar

Optical Coherence Tomography - Right - 20/40

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/20

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/40

Exemplar

Infrared Fundus Photograph - Left - 20/20

Exemplar

Visit at age: 33 years

Fundus Photography - Right - 20/30 -2

Exemplar

Fundus Photography - Left - 20/30 -2

Exemplar

Optical Coherence Tomography - Right - 20/30 -2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/30 -2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/30 -2

Exemplar

Infrared Fundus Photograph - Left - 20/30 -2

Exemplar

Visit at age: 35 years

Optical Coherence Tomography - Right - 20/30

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/60 +2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/30

Exemplar

Infrared Fundus Photograph - Left - 20/60 +2

Exemplar

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Pattern Dystrophy IMPG2 Ser804 del2aGT   AD
Gene:
Allele 1:
Ser804 del2aGT
Allele 2:
 
Inheritance:
AD
Cite this case