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SR2702

SECORD (IA2b)

Male

Male

SR2702

SECORD (IA2b)

Male

Male

Visit at age: 36 years

Fundus Photography - Right - 10/300 sc

Exemplar

Fundus Photography - Left - 10/225 sc

Exemplar

Goldmann Visual Field - Right - 10/300 sc

Exemplar

Goldmann Visual Field - Left - 10/225 sc

Exemplar

Optical Coherence Tomography - Right - 10/300 sc

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 10/225 sc

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 10/300 sc

Exemplar

Infrared Fundus Photograph - Left - 10/225 sc

Exemplar

Visit at age: 37 years

Goldmann Visual Field - Right - 20/600

Exemplar

Goldmann Visual Field - Left - 20/500

Exemplar

Visit at age: 38 years

Goldmann Visual Field - Right - 20/1250 sc

Exemplar

Goldmann Visual Field - Left - 20/400 sc

Exemplar

Visit at age: 39 years

Goldmann Visual Field - Right - Hand Motion 2'

Exemplar

Goldmann Visual Field - Left - 20/300 sc

Exemplar

Visit at age: 39 years (Visit 2)

Goldmann Visual Field - Right - Hand Motion at Face

Exemplar

Goldmann Visual Field - Left - 20/600 sc

Exemplar

Optical Coherence Tomography - Left - 20/600 sc

Exemplar / OCT Stack

Infrared Fundus Photograph - Left - 20/600 sc

Exemplar

B-Scan Ultrasonography - Right - Hand Motion at Face

Exemplar

B-Scan Ultrasonography - Left - 20/600 sc

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
SECORD	OTX2	Tyr197Stop TAT>TAG		AD

Disease:

Gene:

Allele 1:

Tyr197Stop TAT>TAG

Allele 2:

Inheritance:

AD

Cite this case