Amaurosis congenita, cone-rod type, with congenital hypertrichosis
Medical condition
From Wikipedia, the free encyclopedia
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.[1] Only two cases have been described in medical literature.[2]
| Amaurosis congenita, cone-rod type, with congenital hypertrichosis | |
|---|---|
| |
| Specialty | Medical genetics |
| Prevention | None |
| Prognosis | Good |
| Frequency | Very rare |
| Deaths | - |
Signs and symptoms
This is a list of the symptoms that this condition causes:[3][4][5]
- Cone-rod type amaurosis congenita
- Severe corneal dystrophy
- Vision impairment
- Severe photophobia which isn't associated to nyctalopia
- Thick eyebrows
- Synophrys
- Hypertrichosis
- Hypermetropia
- Hirsutism
Etymology
It has been described in two cousins born to consanguineous parents, both of them had the same symptoms.[6]
