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 2 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 edit
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
Etimology edit
It has been described in 2 cousins born to consanguineous parents, both of them had the same symptoms.[6]
References edit
- ^ "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. 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.
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