SR46

XL Retinitis Pigmentosa (IA1ai)

Male

Male

SR46

XL Retinitis Pigmentosa (IA1ai)

Male

Male

Visit at age: 18 years

Fundus Photography - Right - 10/125 -1

Exemplar

Fundus Photography - Left - 10/200

Exemplar

Fundus Montage - Right - 10/125 -1

Exemplar

Fundus Montage - Left - 10/200

Exemplar

Goldmann Visual Field - Right - 10/125 -1

Exemplar

Goldmann Visual Field - Left - 10/200

Exemplar

Visit at age: 19 years

Goldmann Visual Field - Right - 20/400

Exemplar

Goldmann Visual Field - Left - 20/400

Exemplar

Visit at age: 20 years

Goldmann Visual Field - Right - 2/120

Exemplar

Goldmann Visual Field - Left - 5/600

Exemplar

Optical Coherence Tomography - Right - 2/120

Exemplar

Optical Coherence Tomography - Left - 5/600

Exemplar

Infrared Fundus Photograph - Right - 2/120

Exemplar

Infrared Fundus Photograph - Left - 5/600

Exemplar

Visit at age: 22 years

Goldmann Visual Field - Right - 20/400

Exemplar

Goldmann Visual Field - Left - Count Fingers

Exemplar

Optical Coherence Tomography - Right - 20/400

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - Count Fingers

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/400

Exemplar

Infrared Fundus Photograph - Left - Count Fingers

Exemplar

Visit at age: 24 years

Goldmann Visual Field - Right - 2/300

Exemplar

Goldmann Visual Field - Left - <1/700

Exemplar

Optical Coherence Tomography - Right - 2/300

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - <1/700

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 2/300

Exemplar

Infrared Fundus Photograph - Left - <1/700

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Retinitis Pigmentosa RP2 Arg120Stop CGA>TGA   XL
Gene:
Allele 1:
Arg120Stop CGA>TGA
Allele 2:
 
Inheritance:
XL
Cite this case