SR495

Best Disease (IIB)

Male

Male

SR495

Best Disease (IIB)

Male

Male

Visit at age: 68 years

Fundus Photography - Right - 20/200 -2 sc

Exemplar

Fundus Photography - Left - 20/50 +2

Exemplar

Optical Coherence Tomography - Right - 20/200 -2 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50 +2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/200 -2 sc

Exemplar

Infrared Fundus Photograph - Left - 20/50 +2

Exemplar

Visit at age: 69 years

Optical Coherence Tomography - Right - 20/200 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/200 -2

Exemplar

Infrared Fundus Photograph - Left - 20/50 -1

Exemplar

Visit at age: 71 years

Optical Coherence Tomography - Right - 20/200 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 -2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/200 -2

Exemplar

Infrared Fundus Photograph - Left - 20/40 -2

Exemplar

Visit at age: 73 years

Optical Coherence Tomography - Right - 20/200

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/80 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/200

Exemplar

Infrared Fundus Photograph - Left - 20/80 +1

Exemplar

Blue Autofluorescence - Right - 20/200

Exemplar

Blue Autofluorescence - Left - 20/80 +1

Exemplar

Visit at age: 75 years

Optical Coherence Tomography - Right - 20/200 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/80 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/200 -1

Exemplar

Infrared Fundus Photograph - Left - 20/80 -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