Loading...

JavaScript is disabled.

Without JavaScript enabled, this site will not function properly.
Please follow these instructions in order to enable JavaScript in your browser.

SR2133

Best Disease (IIB)

Female

Female

SR2133

Best Disease (IIB)

Female

Female

Visit at age: 34 years

Fundus Photography - Right - 20/20 -2

Exemplar

Fundus Photography - Left - 20/20 -2

Exemplar

Fluorescein Angiography - Right - 20/20 -2

Exemplar

Fluorescein Angiography - Left - 20/20 -2

Exemplar

Visit at age: 36 years

Fundus Photography - Right - 20/50 -2

Exemplar

Fundus Photography - Left - 20/50 -1

Exemplar

Visit at age: 37 years

Fundus Photography - Right - 20/25 +2

Exemplar

Fundus Photography - Left - 20/50

Exemplar

Visit at age: 43 years

Fundus Photography - Right - 20/25

Exemplar

Fundus Photography - Left - 20/100

Exemplar

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
Best Disease	BEST1	Ala243Thr GCG>ACG		AD

Disease:

Gene:

Allele 1:

Ala243Thr GCG>ACG

Allele 2:

Inheritance:

AD

Cite this case