Ophthalmologic and systemic features of the Alström syndrome: report of 9 cases
- PMID: 11702646
Ophthalmologic and systemic features of the Alström syndrome: report of 9 cases
Abstract
The Alström syndrome is a rare autosomal recessive disorder characterized by pigmentary retinopathy, diabetes mellitus, sensorineural deafness and obesity. A normal intelligence is often present. We report 9 patients.
Similar articles
-
Familial insulin resistant diabetes associated with acanthosis nigricans, polycystic ovaries, hypogonadism, pigmentary retinopathy, labyrinthine deafness, and mental retardation.Am J Med Genet. 1993 Mar 1;45(5):649-53. doi: 10.1002/ajmg.1320450526. Am J Med Genet. 1993. PMID: 8456839
-
Hepatic dysfunction in Alström disease.Am J Med Genet. 1991 Sep 15;40(4):421-4. doi: 10.1002/ajmg.1320400408. Am J Med Genet. 1991. PMID: 1746604
-
Alstrom syndrome.J Assoc Physicians India. 2002 Feb;50:278. J Assoc Physicians India. 2002. PMID: 12038666 No abstract available.
-
[Alström syndrome].Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):615-7. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9645147 Review. Japanese. No abstract available.
-
The Alström syndrome: is it a rare or unknown disease?Ann Ital Med Int. 2002 Oct-Dec;17(4):221-8. Ann Ital Med Int. 2002. PMID: 12532560 Review.
Cited by
-
Ocular evaluation and genetic test for an early Alström Syndrome diagnosis.Am J Ophthalmol Case Rep. 2020 Aug 12;20:100873. doi: 10.1016/j.ajoc.2020.100873. eCollection 2020 Dec. Am J Ophthalmol Case Rep. 2020. PMID: 32944671 Free PMC article.
-
Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation.Front Genet. 2020 Aug 21;11:938. doi: 10.3389/fgene.2020.00938. eCollection 2020. Front Genet. 2020. PMID: 32973878 Free PMC article.
-
Alström syndrome: insights into the pathogenesis of metabolic disorders.Nat Rev Endocrinol. 2011 Feb;7(2):77-88. doi: 10.1038/nrendo.2010.210. Epub 2010 Dec 7. Nat Rev Endocrinol. 2011. PMID: 21135875 Review.
-
Alstrom syndrome (OMIM 203800): a case report and literature review.Orphanet J Rare Dis. 2007 Dec 21;2:49. doi: 10.1186/1750-1172-2-49. Orphanet J Rare Dis. 2007. PMID: 18154657 Free PMC article. Review.
Publication types
MeSH terms
LinkOut - more resources
Medical