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SR403

XL Retinitis Pigmentosa (IA1ai)

Male

Male

SR403

XL Retinitis Pigmentosa (IA1ai)

Male

Male

Visit at age: 66 years

Fundus Photography - Right - Light Perception

Exemplar

Fundus Photography - Left - Light Perception

Exemplar

Fundus Montage - Right - Light Perception

Exemplar

Fundus Montage - Left - Light Perception

Exemplar

Optical Coherence Tomography - Right - Light Perception

Exemplar / OCT Stack

Optical Coherence Tomography - Left - Light Perception

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - Light Perception

Exemplar

Infrared Fundus Photograph - Left - Light Perception

Exemplar

Visit at age: 69 years

Optical Coherence Tomography - Right - Light Perception

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - Light Perception

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - Light Perception

Exemplar

Infrared Fundus Photograph - Left - Light Perception

Exemplar

Visit at age: 71 years

Optical Coherence Tomography - Right - Light Perception

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - Light Perception

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - Light Perception

Exemplar

Infrared Fundus Photograph - Left - Light Perception

Exemplar

Visit at age: 73 years

Optical Coherence Tomography - Right - Light Perception

Exemplar / OCT Stack

Optical Coherence Tomography - Left - Light Perception

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - Light Perception

Exemplar

Infrared Fundus Photograph - Left - Light Perception

Exemplar

Visit at age: 74 years

Fundus Photography - Right - Light Perception

Exemplar

Fundus Photography - Left - Light Perception

Exemplar

Optical Coherence Tomography - Right - Light Perception

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - Light Perception

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - Light Perception

Exemplar

Infrared Fundus Photograph - Left - Light Perception

Exemplar

Visit at age: 76 years

Optical Coherence Tomography - Right - Light Perception

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - Light Perception

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - Light Perception

Exemplar

Infrared Fundus Photograph - Left - Light Perception

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Retinitis Pigmentosa RPGR Glu726Stop GAG>TAG   XL
Gene:
Allele 1:
Glu726Stop GAG>TAG
Allele 2:
 
Inheritance:
XL
Cite this case