Case
SR2923
Student Mode
Fundus Albipunctatus (IA2fv)
Male
Male
Hidden
SR2923
Student Mode
Fundus Albipunctatus (IA2fv)
Male
Male
Visit at age: 40 years
Goldmann Visual Field - Right - 20/50 +2 sc
Exemplar
Goldmann Visual Field - Left - 20/63 +2 sc
Exemplar
Visit at age: 40 years (Visit 2)
Fundus Photography - Right - 20/50 +2 sc
Exemplar
Fundus Photography - Left - 20/63 +2 sc
Exemplar
Fundus Montage - Right - 20/50 +2 sc
Exemplar
Fundus Montage - Left - 20/63 +2 sc
Exemplar
Optical Coherence Tomography - Right - 20/50 +2 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/63 +2 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50 +2 sc
Exemplar
Infrared Fundus Photograph - Left - 20/63 +2 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Fundus Albipunctatus | RDH5 | Arg280His CGC>CAC | Arg280His CGC>CAC | AR |
Disease:
Gene:
Allele 1:
Arg280His CGC>CAC
Allele 2:
Arg280His CGC>CAC
Inheritance:
AR