SR3012

Retinitis Pigmentosa with Cognitive Impairment (IB11)

Female

Female

SR3012

Retinitis Pigmentosa with Cognitive Impairment (IB11)

Female

Female

Visit at age: 57 years

Fundus Photography - Right - 20/80 -1

Exemplar

Fundus Photography - Left - 20/125 +1

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Fundus Montage - Right - 20/80 -1

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Goldmann Visual Field - Right - 20/80 -1

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Goldmann Visual Field - Left - 20/125 +1

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Optical Coherence Tomography - Right - 20/80 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/125 +1

Exemplar

Infrared Fundus Photograph - Right - 20/80 -1

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Infrared Fundus Photograph - Left - 20/125 +1

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Visit at age: 59 years

Optical Coherence Tomography - Right - 20/80 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/80 -2

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/80 +2

Exemplar

Infrared Fundus Photograph - Left - 20/80 -2

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Visit at age: 61 years

Optical Coherence Tomography - Right - 20/200

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/100

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/200

Exemplar

Infrared Fundus Photograph - Left - 20/100

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Visit at age: 64 years

Optical Coherence Tomography - Right - 20/125 -1

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/160 +2

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/125 -1

Exemplar

Infrared Fundus Photograph - Left - 20/160 +2

Exemplar

Visit at age: 66 years

Optical Coherence Tomography - Right - 10/125 -2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 10/200 -3

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Infrared Fundus Photograph - Right - 10/125 -2

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Infrared Fundus Photograph - Left - 10/200 -3

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Retinitis Pigmentosa with Cognitive Impairment HK1 Ser445Leu TCG>TTG   AD
Gene:
Allele 1:
Ser445Leu TCG>TTG
Allele 2:
 
Inheritance:
AD
Cite this case