Case
SR323
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Hidden
SR323
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
History
This 18 year old man first had difficulty playing sports at night when he was eleven years old.
Pedigree
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 |
Disease:
Gene:
Allele 1:
His721Gln CAT>CAA
Allele 2:
Large deletion, including MERTK, breakpoint unknown
Inheritance:
AR