SR323

AR Retinitis Pigmentosa (IA1aiii)

Male

Male

SR323

AR Retinitis Pigmentosa (IA1aiii)

Male

Male

Highlighted Images

Age at visit: 18 years
OD OS

Pedigree

Age at visit: 18 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AR Retinitis Pigmentosa MERTK His721Gln CAT>CAA Large deletion, including MERTK, breakpoint unknown AR
Gene:
Allele 1:
His721Gln CAT>CAA
Allele 2:
Large deletion, including MERTK, breakpoint unknown
Inheritance:
AR
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