Loading...

SR1884

Best Disease (IIB)

Male

Male

SR1884

Best Disease (IIB)

Male

Male

Visit at age: 57 years

Fundus Photography - Right - 20/15 -2 sc

Exemplar

Fundus Photography - Left - 20/20 -3 sc

Exemplar

Optical Coherence Tomography - Right - 20/15 -2 sc

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

Optical Coherence Tomography - Left - 20/20 -3 sc

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

Infrared Fundus Photograph - Right - 20/15 -2 sc

Exemplar

Infrared Fundus Photograph - Left - 20/20 -3 sc

Exemplar

Visit at age: 59 years

Fundus Photography - Right - 20/20 sc

Exemplar

Fundus Photography - Left - 20/20 sc

Exemplar

Optical Coherence Tomography - Right - 20/20 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20 sc

Exemplar

Infrared Fundus Photograph - Left - 20/20 sc

Exemplar

Visit at age: 60 years

Optical Coherence Tomography - Right - 20/20 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20 sc

Exemplar

Infrared Fundus Photograph - Left - 20/20 sc

Exemplar

Visit at age: 61 years

Optical Coherence Tomography - Right - 20/30 +2 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/30 +2 sc

Exemplar

Infrared Fundus Photograph - Left - 20/50 sc

Exemplar

Visit at age: 64 years

Fundus Photography - Right - 20/15

Exemplar

Fundus Photography - Left - 20/15 -1

Exemplar

Fundus Montage - Right - 20/15

Exemplar

Fundus Montage - Left - 20/15 -1

Exemplar

Optical Coherence Tomography - Right - 20/15

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/15 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/15

Exemplar

Infrared Fundus Photograph - Left - 20/15 -1

Exemplar

Visit at age: 66 years

Fundus Photography - Right - 20/20

Exemplar

Fundus Photography - Left - 20/125 -2

Exemplar

Optical Coherence Tomography - Right - 20/20

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/125 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20

Exemplar

Infrared Fundus Photograph - Left - 20/125 -2

Exemplar

Visit at age: 67 years

Fundus Photography - Right - 20/63 -2

Exemplar

Fundus Photography - Left - 20/100 -2

Exemplar

Optical Coherence Tomography - Right - 20/63 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/100 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/63 -2

Exemplar

Infrared Fundus Photograph - Left - 20/100 -2

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Best Disease BEST1 Lys30Arg AAG>AGG   AD
Disease:
Gene:
Allele 1:
Lys30Arg AAG>AGG
Allele 2:
 
Inheritance:
AD
Cite this case