SR1812

Best Disease (IIB)

Male

Male

SR1812

Best Disease (IIB)

Male

Male

Visit at age: 29 years

Fundus Photography - Right - 20/20 sc

Exemplar

Fundus Photography - Left - 20/20 sc

Exemplar

Visit at age: 29 years (Visit 2)

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: 32 years

Fundus Photography - Right - 20/20 -2 sc

Exemplar

Fundus Photography - Left - 20/20 sc

Exemplar

Fundus Montage - Right - 20/20 -2 sc

Exemplar

Fundus Montage - Left - 20/20 sc

Exemplar

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

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

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

Exemplar

Infrared Fundus Photograph - Left - 20/20 sc

Exemplar

Blue Autofluorescence - Right - 20/20 -2 sc

Exemplar

Blue Autofluorescence - Left - 20/20 sc

Exemplar

Visit at age: 38 years

Fundus Photography - Right - 20/20 sc

Exemplar

Fundus Photography - Left - 20/16 sc

Exemplar

Fundus Montage - Right - 20/20 sc

Exemplar

Fundus Montage - Left - 20/16 sc

Exemplar

Optical Coherence Tomography - Right - 20/20 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/16 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20 sc

Exemplar

Infrared Fundus Photograph - Left - 20/16 sc

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Best Disease BEST1 Ile295Leu ATC>CTC   AD
Disease:
Gene:
Allele 1:
Ile295Leu ATC>CTC
Allele 2:
 
Inheritance:
AD
Cite this case