SR23

Sorsby Fundus Dystrophy (IIH)

Female

Female

SR23

Sorsby Fundus Dystrophy (IIH)

Female

Female

Visit at age: 42 years

Fluorescein Angiography - Right - unknown

Exemplar

Fluorescein Angiography - Left - unknown

Exemplar

Visit at age: 43 years

Fundus Photography - Right - 20/70 -1 cc

Exemplar

Fundus Photography - Left - 20/200 ecc cc

Exemplar

Fundus Montage - Right - 20/70 -1 cc

Exemplar

Fundus Montage - Left - 20/200 ecc cc

Exemplar

Optical Coherence Tomography - Right - 20/70 -1 cc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/200 ecc cc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/70 -1 cc

Exemplar

Infrared Fundus Photograph - Left - 20/200 ecc cc

Exemplar

Visit at age: 43 years (Visit 2)

Fundus Photography - Right - 20/100 cc

Exemplar

Fundus Photography - Left - 20/160 ecc cc

Exemplar

Visit at age: 48 years

Goldmann Visual Field - Right - 20/30 cc

Exemplar

Goldmann Visual Field - Left - 20/125 -1 cc

Exemplar

Optical Coherence Tomography - Right - 20/30 cc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/125 -1 cc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/30 cc

Exemplar

Infrared Fundus Photograph - Left - 20/125 -1 cc

Exemplar

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Sorsby Fundus Dystrophy TIMP3 Cys24Arg TGC>CGC   AD
Gene:
Allele 1:
Cys24Arg TGC>CGC
Allele 2:
 
Inheritance:
AD
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