Log in Register Terms of Use
Join Teaching Session Search
StoneRounds Disease Atlas SR627

Loading...

SR627

Ladder View Download View

SECORD (IA2b)

Female

Female

SR627

Ladder View Download View

SECORD (IA2b)

Female

Female

Visit at age: 26 years

Fundus Photography - Right - 1/700 sc

Exemplar

Fundus Photography - Left - 1/700 sc

Exemplar

Fundus Montage - Right - 1/700 sc

Exemplar

Fundus Montage - Left - 1/700 sc

Exemplar

Optical Coherence Tomography - Right - 1/700 sc

Exemplar

Optical Coherence Tomography - Left - 1/700 sc

Exemplar

Infrared Fundus Photograph - Right - 1/700 sc

Exemplar

Visit at age: 27 years

Optical Coherence Tomography - Right - Light Perception

Exemplar

Optical Coherence Tomography - Left - Light Perception

Exemplar

Infrared Fundus Photograph - Right - Light Perception

Exemplar

Infrared Fundus Photograph - Left - Light Perception

Exemplar

Visit at age: 28 years

Optical Coherence Tomography - Right - Light Perception

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - Light Perception

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - Light Perception

Exemplar

Infrared Fundus Photograph - Left - Light Perception

Exemplar

Visit at age: 30 years

Optical Coherence Tomography - Right - Light Perception

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - Light Perception

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - Light Perception

Exemplar

Infrared Fundus Photograph - Left - Light Perception

Exemplar

Visit at age: 33 years

Optical Coherence Tomography - Left - Light Perception

Exemplar / OCT Stack

Infrared Fundus Photograph - Left - Light Perception

Exemplar

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
SECORD RPGRIP1 His631Arg CAC>CGC Pro237 del1ccA AR
Disease:
SECORD
Gene:
RPGRIP1
Allele 1:
His631Arg CAC>CGC
Allele 2:
Pro237 del1ccA
Inheritance:
AR
Cite this case