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SR925

AD Retinitis Pigmentosa (IA1aii)

Female

Female

SR925

AD Retinitis Pigmentosa (IA1aii)

Female

Female

Visit at age: 52 years

Goldmann Visual Field - Right - 20/20 -1

Exemplar

Goldmann Visual Field - Left - 20/20

Exemplar

Visit at age: 57 years

Fundus Photography - Right - 20/20 -2

Exemplar

Fundus Photography - Left - 20/20

Exemplar

Fundus Montage - Right - 20/20 -2

Exemplar

Fundus Montage - Left - 20/20

Exemplar

Goldmann Visual Field - Right - 20/20 -2

Exemplar

Goldmann Visual Field - Left - 20/20

Exemplar

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
AD Retinitis Pigmentosa	KLHL7	Ile169Asn ATT>AAT		AD

Disease:

AD Retinitis Pigmentosa

Gene:

Allele 1:

Ile169Asn ATT>AAT

Allele 2:

Inheritance:

AD

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