Amaurosis congenita, cone-rod type, with congenital hypertrichosis
| 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.[1] Only two cases have been described in medical literature.[2]
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]
References
- ↑ "Orphanet: Amaurosis hypertrichosis syndrome". www.orpha.net. Retrieved 2022-06-13.
- ↑ "OMIM Entry - 204110 - Amaurosis Congenita, Cone-Rod Type, With Congenital Hypertrichosis". www.omim.org. Retrieved 2022-06-13.
- ↑ "Amaurosis congenita cone-rod type with congenital hypertrichosis - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Archived from the original on December 29, 2016. Retrieved 2022-06-13.
- ↑ "OMIM Clinical Synopsis - 204110 - Amaurosis Congenita, Cone-Rod Type, With Congenital Hypertrichosis". www.omim.org. Retrieved 2022-06-13.
- ↑ "Amaurosis congenita cone-rod type with congenital hypertrichosis – Rare Hematology News". Retrieved 2022-06-13.
- ↑ Jalili, I. K. (1989-08-01). "Cone-rod congenital amaurosis associated with congenital hypertrichosis: an autosomal recessive condition". Journal of Medical Genetics. 26 (8): 504–510. doi:10.1136/jmg.26.8.504. ISSN 0022-2593. PMC 1015672. PMID 2769722.