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SR2431

Retinitis Pigmentosa with Ataxia (IB7)

Male

Male

SR2431

Retinitis Pigmentosa with Ataxia (IB7)

Male

Male

Visit at age: 64 years

Fundus Photography - Right - 20/25

Exemplar

Fundus Photography - Left - 20/25

Exemplar

Fundus Montage - Right - 20/25

Exemplar

Fundus Montage - Left - 20/25

Exemplar

Goldmann Visual Field - Right - 20/25

Exemplar

Goldmann Visual Field - Left - 20/25

Exemplar

Optical Coherence Tomography - Right - 20/25

Exemplar / OCT Stack

OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/25

Exemplar / OCT Stack

OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/25

Exemplar

Infrared Fundus Photograph - Left - 20/25

Exemplar

Visit at age: 67 years

Fundus Photography - Right - 20/25 -2

Exemplar

Fundus Photography - Left - 20/20 -2

Exemplar

Fundus Montage - Right - 20/25 -2

Exemplar

Fundus Montage - Left - 20/20 -2

Exemplar

Goldmann Visual Field - Right - 20/25 -2

Exemplar

Goldmann Visual Field - Left - 20/20 -2

Exemplar

Visit at age: 68 years

Fundus Photography - Right - 20/40

Exemplar

Fundus Photography - Left - 20/25

Exemplar

Optical Coherence Tomography - Right - 20/40

Exemplar / OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/25

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/40

Exemplar

Infrared Fundus Photograph - Left - 20/25

Exemplar

Blue Autofluorescence - Right - 20/40

Exemplar

Blue Autofluorescence - Left - 20/25

Exemplar

Green Autofluorescence - Right - 20/40

Exemplar

Green Autofluorescence - Left - 20/25

Exemplar

Visit at age: 70 years

Fundus Photography - Right - 20/40

Exemplar

Fundus Photography - Left - 20/25

Exemplar

Goldmann Visual Field - Right - 20/40

Exemplar

Goldmann Visual Field - Left - 20/25

Exemplar

Optical Coherence Tomography - Right - 20/40

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/25

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/40

Exemplar

Infrared Fundus Photograph - Left - 20/25

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
Retinitis Pigmentosa with Ataxia	ELOVL4	Ile171Thr ATT>ACT		AD

Disease:

Retinitis Pigmentosa with Ataxia

Gene:

Allele 1:

Ile171Thr ATT>ACT

Allele 2:

Inheritance:

AD

Cite this case