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SR533

ECORD (IA2c)

Male

Male

SR533

ECORD (IA2c)

Male

Male

Visit at age: 14 years

Fundus Photography - Right - 20/32 -1

Exemplar

Fundus Photography - Left - 20/32 -1

Exemplar

Fundus Montage - Right - 20/32 -1

Exemplar

Fundus Montage - Left - 20/32 -1

Exemplar

Goldmann Visual Field - Right - 20/32 -1

Exemplar

Goldmann Visual Field - Left - 20/32 -1

Exemplar

Optical Coherence Tomography - Right - 20/32 -1

Exemplar / OCT Stack

OCT Stack

OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/32 -1

Exemplar / OCT Stack

OCT Stack

OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/32 -1

Exemplar

Infrared Fundus Photograph - Left - 20/32 -1

Exemplar

Visit at age: 18 years

Goldmann Visual Field - Right - 20/25

Exemplar

Goldmann Visual Field - Left - 20/20 -2

Exemplar

Optical Coherence Tomography - Right - 20/25

Exemplar / OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/20 -2

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/25

Exemplar

Infrared Fundus Photograph - Left - 20/20 -2

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
ECORD	CRB1	Lys801Stop AAG>TAG	Gly770Ser GGC>AGC	AR

Disease:

Gene:

Allele 1:

Lys801Stop AAG>TAG

Allele 2:

Gly770Ser GGC>AGC

Inheritance:

AR

Cite this case