Case
SR2211
Student Mode
Achromatopsia (IA2d)
Male
Male
Hidden
SR2211
Student Mode
Achromatopsia (IA2d)
Male
Male
History
This 7 year old boy had nystagmus in the first 2 weeks of life.
| Color Vision: | Could not correctly name any of the Ishihara color plates in either eye. |
|---|---|
| Refraction OD: | +3.25 +1.00 x 85 |
| Refraction OS: | +3.25 +1.00 x 100 |
Pedigree
Teaching Points
The clinical features supporting the diagnosis of achromatopsia in this patient include: nystagmus noticed in the first 2 weeks of life; reduced acuity, poor color vision, a normal fundus appearance, a near normal OCT, normally sighted parents and absence of a similarly affected male elsewhere in his mother's family.
| Age at visit: 7 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Achromatopsia | CNGB3 | Thr383 del1aC | Thr383 del1aC | AR |