| Amaurosis congenita, cone-rod type, with congenital hypertrichosis | |
|---|---|
 | |
| Specialty | Medical genetics |
| Prevention | none |
| Prognosis | Good |
| Frequency | very rare |
| Deaths | - |
Amaurosis congenita, cone-rod type, with congenital hypertrichosis is a very rare genetic disorder which is characterized by ocular anomalies and trichomegaly. It is inherited in an autosomal recessive manner. Only 2 cases have been described in medical literature.
Signs and symptoms
This is a list of the symptoms that this condition causes:
- Cone-rod type amaurosis congenita
- Severe corneal dystrophy
- Vision impairment
- Severe photophobia which isn't associated to nyctalopia
- Thick eyebrows
- Synophrys
- Hypertrichosis
- Hypermetropia
- Hirsutism
Etimology
It has been described in 2 cousins born to consanguineous parents, both of them had the same symptoms.