SR700

MCL (IB6)

Male

Male

SR700

MCL (IB6)

Male

Male

Visit at age: 14 years

Fundus Photography - Right - 20/80

Exemplar

Fundus Photography - Left - 20/40

Exemplar

Optical Coherence Tomography - Right - 20/80

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/80

Exemplar

Infrared Fundus Photograph - Left - 20/40

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
MCL KIF11 Thr65 del2acAT   AD
Disease:
Gene:
Allele 1:
Thr65 del2acAT
Allele 2:
 
Inheritance:
AD
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