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SR2466

Macular Disease (II)

Male

Male

SR2466

Macular Disease (II)

Male

Male

Visit at age: 42 years

Fundus Photography - Right - 20/20

Exemplar

Fundus Photography - Left - 20/20

Exemplar

Goldmann Visual Field - Right - 20/20

Exemplar

Goldmann Visual Field - Left - 20/20

Exemplar

Optical Coherence Tomography - Right - 20/20

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20

Exemplar

Infrared Fundus Photograph - Left - 20/20

Exemplar

Blue Autofluorescence - Right - 20/20

Exemplar

Blue Autofluorescence - Left - 20/20

Exemplar

Visit at age: 43 years

Fundus Photography - Right - 20/16 -2

Exemplar

Fundus Photography - Left - 20/16 -1

Exemplar

Goldmann Visual Field - Right - 20/16 -2

Exemplar

Goldmann Visual Field - Left - 20/16 -1

Exemplar

Optical Coherence Tomography - Right - 20/16 -2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/16 -1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/16 -2

Exemplar

Infrared Fundus Photograph - Left - 20/16 -1

Exemplar

Blue Autofluorescence - Right - 20/16 -2

Exemplar

Blue Autofluorescence - Left - 20/16 -1

Exemplar

Visit at age: 47 years

Optical Coherence Tomography - Right - 20/20

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20

Exemplar

Infrared Fundus Photograph - Left - 20/20

Exemplar

Blue Autofluorescence - Right - 20/20

Exemplar

Blue Autofluorescence - Left - 20/20

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Macular Disease CRX Ala196 del1tacG   AD
Disease:
Gene:
Allele 1:
Ala196 del1tacG
Allele 2:
 
Inheritance:
AD
Cite this case