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 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.