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SR82

Leber Congenital Amaurosis (IA2a)

Female

Female

SR82

Leber Congenital Amaurosis (IA2a)

Female

Female

Visit at age: 4 years

Fundus Photography - Right - No Light Perception

Exemplar

Fundus Photography - Left - No Light Perception

Exemplar

Visit at age: 7 years

Fundus Photography - Right - No Light Perception

Exemplar

Fundus Photography - Left - No Light Perception

Exemplar

Visit at age: 10 years

Fundus Photography - Right - No Light Perception

Exemplar

Fundus Photography - Left - No Light Perception

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
Leber Congenital Amaurosis	CRX	Tyr191 del1cccT		AD

Disease:

Leber Congenital Amaurosis

Gene:

Allele 1:

Tyr191 del1cccT

Allele 2:

Inheritance:

AD

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