SR518

Best Disease (IIB)

Female

Female

SR518

Best Disease (IIB)

Female

Female

Visit at age: 3 years

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OCT Stack

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OCT Stack

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Visit at age: 4 years

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OCT Stack

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OCT Stack

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Visit at age: 4 years (Visit 2)

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OCT Stack

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OCT Stack

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Visit at age: 5 years

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OCT Stack

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OCT Stack

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Visit at age: 6 years

Optical Coherence Tomography - Right - 20/40 +1

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OCT Stack

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OCT Stack

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Visit at age: 7 years

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Exemplar / OCT Stack
OCT Stack
OCT Stack

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OCT Stack
OCT Stack

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Blue Autofluorescence - Right - 20/40 +2

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Visit at age: 8 years

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Optical Coherence Tomography - Right - 20/25 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

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OCT Stack
OCT Stack

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Visit at age: 13 years

Optical Coherence Tomography - Right - 20/20 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

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OCT Stack
OCT Stack

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Best Disease BEST1 Gly34Gly GGC>GGT Ile295Leu ATC>CTC AR
Disease:
Gene:
Allele 1:
Gly34Gly GGC>GGT
Allele 2:
Ile295Leu ATC>CTC
Inheritance:
AR
Cite this case