Case
SR4274
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Hidden
SR4274
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Visit at age: 71 years
Fundus Photography - Right - 20/63 -2
Exemplar
Fundus Photography - Left - 20/80 +2
Exemplar
Goldmann Visual Field - Right - 20/63 -2
Exemplar
Goldmann Visual Field - Left - 20/80 +2
Exemplar
Optical Coherence Tomography - Right - 20/63 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/80 +2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/63 -2
Exemplar
Infrared Fundus Photograph - Left - 20/80 +2
Exemplar
Blue Autofluorescence - Right - 20/63 -2
Exemplar
Blue Autofluorescence - Left - 20/80 +2
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | USH2A | Gly2224Cys GGT>TGT / Glu3448Lys GAA>AAA | IVS45-2 A>G | AR |
Disease:
Gene:
Allele 1:
Gly2224Cys GGT>TGT / Glu3448Lys GAA>AAA
Allele 2:
IVS45-2 A>G
Inheritance:
AR