SR50

XL Retinitis Pigmentosa (IA1ai)

Male

Male

SR50

XL Retinitis Pigmentosa (IA1ai)

Male

Male

Visit at age: 19 years

Fundus Photography - Right - 20/30 +2

Exemplar

Fundus Photography - Left - 20/30 +2

Exemplar

Fundus Montage - Right - 20/30 +2

Exemplar

Fundus Montage - Left - 20/30 +2

Exemplar

Goldmann Visual Field - Right - 20/30 +2

Exemplar

Goldmann Visual Field - Left - 20/30 +2

Exemplar

Optical Coherence Tomography - Right - 20/30 +2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/30 +2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/30 +2

Exemplar

Infrared Fundus Photograph - Left - 20/30 +2

Exemplar

Visit at age: 20 years

Goldmann Visual Field - Right - 20/32 -2

Exemplar

Goldmann Visual Field - Left - 20/40 +2

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Retinitis Pigmentosa RPGR Gly52Arg G(GA)>A(GA)   XL
Gene:
Allele 1:
Gly52Arg G(GA)>A(GA)
Allele 2:
 
Inheritance:
XL
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