SR1780
AR Cone and Cone Rod Dystrophy (IA1biii)
Male
Male
SR1780
AR Cone and Cone Rod Dystrophy (IA1biii)
Male
Male
History
This 11 year old male has had subnormal acuity since at least 3 years of age. He prefers a dim room compared to a bright one. His vision fell from 20/80 to 20/160 between ages 7 & 8.
Pedigree
| Age at visit: 8 years |
| Age at visit: 9 years |
| Age at visit: 10 years |
| Age at visit: 11 years |
| Age at visit: 13 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Cone and Cone Rod Dystrophy | NMNAT1 | Asn18Ser AAT>AGT | Glu257Lys GAG>AAG | AR |
Disease:
Gene:
Allele 1:
Asn18Ser AAT>AGT
Allele 2:
Glu257Lys GAG>AAG
Inheritance:
AR