Literature DB >> 11702646

Ophthalmologic and systemic features of the Alström syndrome: report of 9 cases.

K Van den Abeele1, M Craen, J Schuil, F M Meire.   

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.

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Year:  2001        PMID: 11702646

Source DB:  PubMed          Journal:  Bull Soc Belge Ophtalmol        ISSN: 0081-0746


  3 in total

Review 1.  Alström syndrome: insights into the pathogenesis of metabolic disorders.

Authors:  Dorothée Girard; Nikolai Petrovsky
Journal:  Nat Rev Endocrinol       Date:  2010-12-07       Impact factor: 43.330

2.  Ocular evaluation and genetic test for an early Alström Syndrome diagnosis.

Authors:  Tyler Etheridge; Elizabeth R Kellom; Rachel Sullivan; James N Ver Hoeve; Melanie A Schmitt
Journal:  Am J Ophthalmol Case Rep       Date:  2020-08-12

Review 3.  Alstrom syndrome (OMIM 203800): a case report and literature review.

Authors:  Tisha Joy; Henian Cao; Graeme Black; Rayaz Malik; Valentine Charlton-Menys; Robert A Hegele; Paul N Durrington
Journal:  Orphanet J Rare Dis       Date:  2007-12-21       Impact factor: 4.123

  3 in total

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