Medicine:Amaurosis congenita, cone-rod type, with congenital hypertrichosis
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| Amaurosis congenita, cone-rod type, with congenital hypertrichosis | |
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| 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 2 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
Etimology
It has been described in 2 cousins born to consanguineous parents, both of them had the same symptoms.[6]
References
- ↑ "Orphanet: Amaurosis hypertrichosis syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1021.
- ↑ "OMIM Entry - 204110 - Amaurosis Congenita, Cone-Rod Type, With Congenital Hypertrichosis" (in en-us). https://www.omim.org/entry/204110#1.
- ↑ "Amaurosis congenita cone-rod type with congenital hypertrichosis - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/637/amaurosis-congenita-cone-rod-type-with-congenital-hypertrichosis.
- ↑ "OMIM Clinical Synopsis - 204110 - Amaurosis Congenita, Cone-Rod Type, With Congenital Hypertrichosis". https://www.omim.org/clinicalSynopsis/204110.
- ↑ "Amaurosis congenita cone-rod type with congenital hypertrichosis – Rare Hematology News" (in en-US). https://www.rarehematologynews.com/rarediseases/amaurosis-congenita-cone-rod-type-with-congenital-hypertrichosis/.
- ↑ 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. PMID 2769722. PMC 1015672. https://pubmed.ncbi.nlm.nih.gov/2769722/.
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