Log in Register Terms of Use
Join Teaching Session Search
StoneRounds Disease Atlas SR955

Loading...

SR955

Ladder View Download View

Occult Macular Dystrophy (IIE)

Male

Male

SR955

Ladder View Download View

Occult Macular Dystrophy (IIE)

Male

Male

Visit at age: 50 years

Fundus Photography - Right - 20/200 sc

Exemplar

Fundus Photography - Left - 20/400 sc

Exemplar

Goldmann Visual Field - Right - 20/200 sc

Exemplar

Goldmann Visual Field - Left - 20/400 sc

Exemplar

Visit at age: 52 years

Fundus Photography - Right - 20/200 sc

Exemplar

Fundus Photography - Left - 20/400 sc

Exemplar

Optical Coherence Tomography - Right - 20/200 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/400 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/200 sc

Exemplar

Infrared Fundus Photograph - Left - 20/400 sc

Exemplar

Visit at age: 56 years

Fundus Photography - Right - 20/200 sc

Exemplar

Fundus Photography - Left - 10/160 -1 sc

Exemplar

Goldmann Visual Field - Right - 20/200 sc

Exemplar

Goldmann Visual Field - Left - 10/160 -1 sc

Exemplar

Optical Coherence Tomography - Right - 20/200 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 10/160 -1 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/200 sc

Exemplar

Infrared Fundus Photograph - Left - 10/160 -1 sc

Exemplar

Visit at age: 60 years

Optical Coherence Tomography - Right - 20/200 -1 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 10/120 +1 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/200 -1 sc

Exemplar

Infrared Fundus Photograph - Left - 10/120 +1 sc

Exemplar

Blue Autofluorescence - Right - 20/200 -1 sc

Exemplar

Blue Autofluorescence - Left - 10/120 +1 sc

Exemplar

Visit at age: 66 years

Fundus Photography - Right - 10/125

Exemplar

Fundus Photography - Left - 10/125

Exemplar

Fundus Montage - Right - 10/125

Exemplar

Fundus Montage - Left - 10/125

Exemplar

Optical Coherence Tomography - Right - 10/125

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 10/125

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 10/125

Exemplar

Infrared Fundus Photograph - Left - 10/125

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Occult Macular Dystrophy RP1L1 Arg45Trp CGG>TGG   AD
Disease:
Occult Macular Dystrophy
Gene:
RP1L1
Allele 1:
Arg45Trp CGG>TGG
Allele 2:
 
Inheritance:
AD
Cite this case