Retinal cone dystrophy 3B
| Retinal cone dystrophy 3B | |
|---|---|
| Specialty | Medical genetics |
| Symptoms | Ocular abnormalities |
| Complications | Vision impairment, colorblindness |
| Usual onset | Mid/late childhood-early adulthood |
| Duration | Life-long (most of the symptoms) |
| Causes | Genetic mutation |
| Prevention | none |
| Frequency | very rare, only 34 cases have been described worldwide. |
| Deaths | - |
Retinal cone dystrophy 3B is a very rare genetic disorder which is characterized by ocular anomalies. Approximately 34 cases from 20 families across the world have been described in medical literature (OMIM). This disorder is associated with autosomal recessive mutations in the KCNV2 and PDE6H genes.