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StoneRounds Disease Atlas SR1104

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SR1104

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Congenital Stationary Night Blindness (IA2f)

Female

Female

SR1104

Ladder View Download View

Congenital Stationary Night Blindness (IA2f)

Female

Female

Visit at age: 14 years

Fundus Photography - Right - 20/20

Exemplar

Fundus Photography - Left - 20/20 +2

Exemplar

Fundus Montage - Right - 20/20

Exemplar

Fundus Montage - Left - 20/20 +2

Exemplar

Goldmann Visual Field - Right - 20/20

Exemplar

Goldmann Visual Field - Left - 20/20 +2

Exemplar

Visit at age: 15 years

Goldmann Visual Field - Right - 20/25

Exemplar

Goldmann Visual Field - Left - 20/25

Exemplar

Visit at age: 16 years

Goldmann Visual Field - Right - 20/25

Exemplar

Goldmann Visual Field - Left - 20/30 -1

Exemplar

Visit at age: 18 years

Goldmann Visual Field - Right - 20/20

Exemplar

Goldmann Visual Field - Left - 20/20 -2

Exemplar

Optical Coherence Tomography - Right - 20/20

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 -2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20

Exemplar

Infrared Fundus Photograph - Left - 20/20 -2

Exemplar

Visit at age: 18 years (Visit 2)

Fundus Photography - Right - 20/20 -1

Exemplar

Fundus Photography - Left - 20/20 -1

Exemplar

Optical Coherence Tomography - Right - 20/20 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 -1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20 -1

Exemplar

Infrared Fundus Photograph - Left - 20/20 -1

Exemplar

Visit at age: 19 years

Goldmann Visual Field - Right - 20/25 +2

Exemplar

Goldmann Visual Field - Left - 20/25 +2

Exemplar

Optical Coherence Tomography - Right - 20/25 +2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 +2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 +2

Exemplar

Infrared Fundus Photograph - Left - 20/25 +2

Exemplar

Visit at age: 20 years

Goldmann Visual Field - Right - 20/20

Exemplar

Goldmann Visual Field - Left - 20/25

Exemplar

Optical Coherence Tomography - Right - 20/20

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20

Exemplar

Infrared Fundus Photograph - Left - 20/25

Exemplar

Visit at age: 22 years

Goldmann Visual Field - Right - 20/20 -2

Exemplar

Goldmann Visual Field - Left - 20/20 -1

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Congenital Stationary Night Blindness SLC24A1 Glu801 del4gAAGGinsTT Asn893 del1aaT AR
Disease:
Congenital Stationary Night Blindness
Gene:
SLC24A1
Allele 1:
Glu801 del4gAAGGinsTT
Allele 2:
Asn893 del1aaT
Inheritance:
AR
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