Amaurosis congenita, cone-rod type, with congenital hypertrichosis
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 two 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