Case
SR3012
Student Mode
Retinitis Pigmentosa with Cognitive Impairment (IB11)
Female
Female
Hidden
SR3012
Student Mode
Retinitis Pigmentosa with Cognitive Impairment (IB11)
Female
Female
History
This 57 year old woman has had poor night vision and subnormal acuity since age 16. She has had subnormal cognitive ability and short attention span since early childhood. Three years earlier (age 54) she had multiple seizures that were controlled with lamotrigine. She currently lives in an assisted living facility.
Pedigree
| Age at visit: 57 years |
| OD | |||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Retinitis Pigmentosa with Cognitive Impairment | HK1 | Ser445Leu TCG>TTG | AD |
Gene:
Allele 1:
Ser445Leu TCG>TTG
Allele 2:
Inheritance:
AD