Case
SR1829
Student Mode
Type 1 Usher Syndrome (IB1a)
Male
Male
Hidden
SR1829
Student Mode
Type 1 Usher Syndrome (IB1a)
Male
Male
Visit at age: 9 years
Fundus Photography - Right - 20/32 +1 sc
Exemplar
Fundus Photography - Left - 20/25 -1 sc
Exemplar
Fundus Montage - Right - 20/32 +1 sc
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Fundus Montage - Left - 20/25 -1 sc
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Goldmann Visual Field - Right - 20/32 +1 sc
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Goldmann Visual Field - Left - 20/25 -1 sc
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Optical Coherence Tomography - Right - 20/32 +1 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 -1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32 +1 sc
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Infrared Fundus Photograph - Left - 20/25 -1 sc
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Visit at age: 11 years
Goldmann Visual Field - Right - 20/50 +1 sc
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Goldmann Visual Field - Left - 20/40 -1 sc
Exemplar
Optical Coherence Tomography - Right - 20/50 +1 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40 -1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50 +1 sc
Exemplar
Infrared Fundus Photograph - Left - 20/40 -1 sc
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Visit at age: 13 years
Goldmann Visual Field - Right - 20/63 -2 sc
Exemplar
Goldmann Visual Field - Left - 20/50 -2 sc
Exemplar
Optical Coherence Tomography - Right - 20/63 -2 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50 -2 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/63 -2 sc
Exemplar
Infrared Fundus Photograph - Left - 20/50 -2 sc
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Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Type 1 Usher Syndrome | MYO7A | Ser211Gly AGC>GGC | Gly214Arg GGA>AGA | AR |
Disease:
Gene:
Allele 1:
Ser211Gly AGC>GGC
Allele 2:
Gly214Arg GGA>AGA
Inheritance:
AR