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
Etymology It has been described in two cousins born to consanguineous parents, both of them had the same symptoms.
References