SR47

AD Cone and Cone Rod Dystrophy (IA1bii)

Male

Male

SR47

AD Cone and Cone Rod Dystrophy (IA1bii)

Male

Male

Visit at age: 36 years

Fundus Photography - Right - 20/200 cc

Exemplar

Fundus Photography - Left - 20/200 -1 cc

Exemplar

Goldmann Visual Field - Right - 20/200 cc

Exemplar

Goldmann Visual Field - Left - 20/200 -1 cc

Exemplar

Optical Coherence Tomography - Right - 20/200 cc

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/200 -1 cc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/200 cc

Exemplar

Infrared Fundus Photograph - Left - 20/200 -1 cc

Exemplar

Visit at age: 38 years

Optical Coherence Tomography - Right - 20/200 cc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/200 -1 cc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/200 cc

Exemplar

Infrared Fundus Photograph - Left - 20/200 -1 cc

Exemplar

Visit at age: 40 years

Fundus Photography - Right - 20/200 -2 cc

Exemplar

Fundus Photography - Left - 20/200 -1 cc

Exemplar

Optical Coherence Tomography - Right - 20/200 -2 cc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/200 -1 cc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/200 -2 cc

Exemplar

Infrared Fundus Photograph - Left - 20/200 -1 cc

Exemplar

Visit at age: 42 years

Optical Coherence Tomography - Right - 20/200 cc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/200 cc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/200 cc

Exemplar

Infrared Fundus Photograph - Left - 20/200 cc

Exemplar

Visit at age: 43 years

Fundus Photography - Right - 20/200 -2 cc

Exemplar

Fundus Photography - Left - 20/200 cc

Exemplar

Optical Coherence Tomography - Right - 20/200 -2 cc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/200 cc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/200 -2 cc

Exemplar

Infrared Fundus Photograph - Left - 20/200 cc

Exemplar

Visit at age: 44 years

Fundus Photography - Right - 20/200 -2 cc

Exemplar

Fundus Photography - Left - 20/200 +1

Exemplar

Optical Coherence Tomography - Right - 20/200 -2 cc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/200 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/200 -2 cc

Exemplar

Infrared Fundus Photograph - Left - 20/200 +1

Exemplar

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD Cone and Cone Rod Dystrophy GUCA1A Glu155Gly GAG>GGG   AD
Disease:
AD Cone and Cone Rod Dystrophy
Gene:
GUCA1A
Allele 1:
Glu155Gly GAG>GGG
Allele 2:
 
Inheritance:
AD
Cite this case