Amaurosis congenita, cone-rod type, with congenital hypertrichosis

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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
SpecialtyMedical genetics
PreventionNone
PrognosisGood
FrequencyVery rare
Deaths-

Signs and symptoms

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This is a list of the symptoms that this condition causes:[3][4][5]

Etimology

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It has been described in 2 cousins born to consanguineous parents, both of them had the same symptoms.[6]

References

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  1. ^ "Orphanet: Amaurosis hypertrichosis syndrome". www.orpha.net. Retrieved 2022-06-13.
  2. ^ "OMIM Entry - 204110 - Amaurosis Congenita, Cone-Rod Type, With Congenital Hypertrichosis". www.omim.org. Retrieved 2022-06-13.
  3. ^ "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.
  4. ^ "OMIM Clinical Synopsis - 204110 - Amaurosis Congenita, Cone-Rod Type, With Congenital Hypertrichosis". www.omim.org. Retrieved 2022-06-13.
  5. ^ "Amaurosis congenita cone-rod type with congenital hypertrichosis – Rare Hematology News". Retrieved 2022-06-13.
  6. ^ 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.