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SR615

AR Cone and Cone Rod Dystrophy (IA1biii)

Female

Female

SR615

AR Cone and Cone Rod Dystrophy (IA1biii)

Female

Female

Visit at age: 15 years

Fundus Photography - Right - 20/40 -2 sc

Exemplar

Fundus Photography - Left - 20/50 +1 sc

Exemplar

Visit at age: 15 years (Visit 2)

Fundus Photography - Right - 20/50 -2 sc

Exemplar

Fundus Photography - Left - 20/70 sc

Exemplar

Goldmann Visual Field - Right - 20/50 -2 sc

Exemplar

Goldmann Visual Field - Left - 20/70 sc

Exemplar

Fluorescein Angiography - Right - 20/50 -2 sc

Exemplar

Fluorescein Angiography - Left - 20/70 sc

Exemplar

Visit at age: 16 years

Fundus Photography - Right - 20/50 sc

Exemplar

Fundus Photography - Left - 20/70 sc

Exemplar

Fluorescein Angiography - Right - 20/50 sc

Exemplar

Fluorescein Angiography - Left - 20/70 sc

Exemplar

Visit at age: 18 years

Fundus Photography - Right - 20/50 sc

Exemplar

Fundus Photography - Left - 20/50 sc

Exemplar

Visit at age: 19 years

Fundus Photography - Right - 20/60 +2 sc

Exemplar

Fundus Photography - Left - 20/200 sc

Exemplar

Visit at age: 22 years

Goldmann Visual Field - Right - 20/60 -1 sc

Exemplar

Goldmann Visual Field - Left - 20/400 sc

Exemplar

Visit at age: 23 years

Goldmann Visual Field - Right - 20/100 sc

Exemplar

Goldmann Visual Field - Left - 20/400 sc

Exemplar

Visit at age: 26 years

Goldmann Visual Field - Right - 20/70 sc

Exemplar

Goldmann Visual Field - Left - 20/200 sc

Exemplar

Visit at age: 29 years

Fundus Photography - Right - 20/100 -1 sc

Exemplar

Fundus Photography - Left - 20/300 sc

Exemplar

Goldmann Visual Field - Right - 20/100 -1 sc

Exemplar

Goldmann Visual Field - Left - 20/300 sc

Exemplar

Visit at age: 31 years

Goldmann Visual Field - Right - 20/100 sc

Exemplar

Goldmann Visual Field - Left - 20/250 sc

Exemplar

Visit at age: 33 years

Fundus Photography - Right - 20/100 -1 sc

Exemplar

Fundus Photography - Left - 20/300 sc

Exemplar

Goldmann Visual Field - Right - 20/100 -1 sc

Exemplar

Goldmann Visual Field - Left - 20/300 sc

Exemplar

Visit at age: 35 years

Goldmann Visual Field - Right - 20/200 sc

Exemplar

Goldmann Visual Field - Left - 20/400 sc

Exemplar

Visit at age: 37 years

Goldmann Visual Field - Right - 20/125 sc

Exemplar

Goldmann Visual Field - Left - 20/250 sc

Exemplar

Visit at age: 39 years

Goldmann Visual Field - Right - 20/160 sc

Exemplar

Goldmann Visual Field - Left - Count Fingers 5' sc

Exemplar

Visit at age: 40 years

Optical Coherence Tomography - Right - 20/160 sc

Exemplar / OCT Stack

OCT Stack

OCT Stack

Optical Coherence Tomography - Left - Hand Motion sc

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/160 sc

Exemplar

Infrared Fundus Photograph - Left - Hand Motion sc

Exemplar

Visit at age: 41 years

Goldmann Visual Field - Right - 20/160 sc

Exemplar

Goldmann Visual Field - Left - Count Fingers sc

Exemplar

Visit at age: 42 years

Fundus Photography - Right - Count Fingers 3' sc

Exemplar

Fundus Photography - Left - Hand Motion sc

Exemplar

Fundus Montage - Right - Count Fingers 3' sc

Exemplar

Fundus Montage - Left - Hand Motion sc

Exemplar

Goldmann Visual Field - Right - Count Fingers 3' sc

Exemplar

Goldmann Visual Field - Left - Hand Motion sc

Exemplar

Optical Coherence Tomography - Right - Count Fingers 3' sc

Exemplar / OCT Stack

OCT Stack

Optical Coherence Tomography - Left - Hand Motion sc

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - Count Fingers 3' sc

Exemplar

Infrared Fundus Photograph - Left - Hand Motion sc

Exemplar

Visit at age: 47 years

Fundus Photography - Right - 10/225 sc

Exemplar

Fundus Photography - Left - Hand Motion 1' sc

Exemplar

Optical Coherence Tomography - Right - 10/225 sc

Exemplar / OCT Stack

OCT Stack

OCT Stack

Optical Coherence Tomography - Left - Hand Motion 1' sc

Exemplar / OCT Stack

OCT Stack

OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 10/225 sc

Exemplar

Infrared Fundus Photograph - Left - Hand Motion 1' sc

Exemplar

Visit at age: 50 years

Goldmann Visual Field - Right - 10/225 sc

Exemplar

Goldmann Visual Field - Left - Hand Motion 1' sc

Exemplar

Optical Coherence Tomography - Right - 10/225 sc

Exemplar / OCT Stack

OCT Stack

OCT Stack

Optical Coherence Tomography - Left - Hand Motion 1' sc

Exemplar / OCT Stack

OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 10/225 sc

Exemplar

Infrared Fundus Photograph - Left - Hand Motion 1' sc

Exemplar

Visit at age: 53 years

Fundus Photography - Right - 10/700 sc

Exemplar

Fundus Photography - Left - Hand Motion 1' sc

Exemplar

Goldmann Visual Field - Right - 10/700 sc

Exemplar

Goldmann Visual Field - Left - Hand Motion 1' sc

Exemplar

Optical Coherence Tomography - Right - 10/700 sc

Exemplar / OCT Stack

OCT Stack

OCT Stack

Optical Coherence Tomography - Left - Hand Motion 1' sc

Exemplar / OCT Stack

OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 10/700 sc

Exemplar

Infrared Fundus Photograph - Left - Hand Motion 1' sc

Exemplar

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
AR Cone and Cone Rod Dystrophy	MERTK	Thr145 del2attAC	Gly468 del1ggA	AR

Disease:

AR Cone and Cone Rod Dystrophy

Gene:

Allele 1:

Thr145 del2attAC

Allele 2:

Gly468 del1ggA

Inheritance:

AR

Cite this case