SR331

Congenital Stationary Cone Dysfunction (IA2d)

Female

Female

SR331

Congenital Stationary Cone Dysfunction (IA2d)

Female

Female

Visit at age: 42 years

Fundus Photography - Right - 20/300

Exemplar

Fundus Photography - Left - 20/250

Exemplar

Goldmann Visual Field - Right - 20/300

Exemplar

Goldmann Visual Field - Left - 20/250

Exemplar

Optical Coherence Tomography - Right - 20/300

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/250

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/300

Exemplar

Infrared Fundus Photograph - Left - 20/250

Exemplar

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Congenital Stationary Cone Dysfunction KCNV2 Glu148Stop GAA>TAA Glu148Stop GAA>TAA AR
Gene:
Allele 1:
Glu148Stop GAA>TAA
Allele 2:
Glu148Stop GAA>TAA
Inheritance:
AR
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