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SR1856

AR Retinitis Pigmentosa (IA1aiii)

Female

Female

SR1856

AR Retinitis Pigmentosa (IA1aiii)

Female

Female

Visit at age: 16 years

Fundus Photography - Right - 20/25

Exemplar

Fundus Photography - Left - 20/20 -1

Exemplar

Fundus Montage - Right - 20/25

Exemplar

Fundus Montage - Left - 20/20 -1

Exemplar

Goldmann Visual Field - Right - 20/25

Exemplar

Goldmann Visual Field - Left - 20/20 -1

Exemplar

Optical Coherence Tomography - Right - 20/25

Exemplar / OCT Stack

OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/20 -1

Exemplar / OCT Stack

OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/25

Exemplar

Infrared Fundus Photograph - Left - 20/20 -1

Exemplar

Blue Autofluorescence - Right - 20/25

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Blue Autofluorescence - Left - 20/20 -1

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Visit at age: 17 years

Goldmann Visual Field - Right - 20/25 -2

Exemplar

Goldmann Visual Field - Left - 20/20 -2

Exemplar

Optical Coherence Tomography - Right - 20/25 -2

Exemplar / OCT Stack

OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/20 -2

Exemplar / OCT Stack

OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/25 -2

Exemplar

Infrared Fundus Photograph - Left - 20/20 -2

Exemplar

Visit at age: 18 years

Goldmann Visual Field - Right - 20/25 -1

Exemplar

Goldmann Visual Field - Left - 20/25 -1

Exemplar

Optical Coherence Tomography - Right - 20/25 -1

Exemplar / OCT Stack

OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/25 -1

Exemplar / OCT Stack

OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/25 -1

Exemplar

Infrared Fundus Photograph - Left - 20/25 -1

Exemplar

Visit at age: 19 years

Goldmann Visual Field - Right - 20/32 -2

Exemplar

Goldmann Visual Field - Left - 20/25 -1

Exemplar

Optical Coherence Tomography - Right - 20/32 -2

Exemplar / OCT Stack

OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/25 -1

Exemplar / OCT Stack

OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/32 -2

Exemplar

Infrared Fundus Photograph - Left - 20/25 -1

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
AR Retinitis Pigmentosa	CNGA1	Arg514Stop CGA>TGA	Leu637Arg CTG>CGG	AR

Disease:

AR Retinitis Pigmentosa

Gene:

Allele 1:

Arg514Stop CGA>TGA

Allele 2:

Leu637Arg CTG>CGG

Inheritance:

AR

Cite this case