Literature DB >> 22688943

Alström syndrome--an uncommon cause of early childhood retinal dystrophy.

Leo Sheck1, Rasha Al-Taie, Dianne Sharp, Andrea Vincent.   

Abstract

Alström syndrome (AS) is a ciliopathy and an uncommon cause of syndromic retinal dystrophy. This case reports findings in a 5-year-old boy with severe early onset retinal dystrophy, and how the recognition of extraocular features with genetic analysis led to the correct diagnosis of AS after 4 years of investigation.

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Mesh：

Year:  2011        PMID： 22688943      PMCID： PMC3171033          DOI： 10.1136/bcr.06.2011.4388

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN： 1757-790X


  11 in total

Review 1.  Leber congenital amaurosis: disease, genetics and therapy.

Authors:  Ednan Ahmed; John Loewenstein
Journal:  Semin Ophthalmol       Date:  2008 Jan-Feb       Impact factor: 1.975

Review 2.  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

Review 3.  The blind leading the obese: the molecular pathophysiology of a human obesity syndrome.

Authors:  Val C Sheffield
Journal:  Trans Am Clin Climatol Assoc       Date:  2010

4.  Molecular analysis and long-term clinical evaluation of three siblings with Alström syndrome.

Authors:  R K Ozgül; I Satman; G B Collin; E G Hinman; J D Marshall; O Kocaman; Y Tütüncü; T Yilmaz; J K Naggert
Journal:  Clin Genet       Date:  2007-10       Impact factor: 4.438

5.  Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.

Authors:  Jan D Marshall; Elizabeth G Hinman; Gayle B Collin; Sebastian Beck; Rita Cerqueira; Pietro Maffei; Gabriella Milan; Weidong Zhang; David I Wilson; Tom Hearn; Purificação Tavares; Roberto Vettor; Caterina Veronese; Mitchell Martin; W Venus So; Patsy M Nishina; Jürgen K Naggert
Journal:  Hum Mutat       Date:  2007-11       Impact factor: 4.878

Review 6.  Alström syndrome--a case report and literature review.

Authors:  Izabella Karska-Basta; Agnieszka Kubicka-Trzaska; Agnieszka Filemonowicz-Skoczek; Bozena Romanowska-Dixon; Joanna Kobylarz
Journal:  Klin Oczna       Date:  2008

7.  Metabolic syndrome features presenting in early childhood in Alström syndrome: a case report.

Authors:  Özgür Pirgon; Mehmet Emre Atabek; Ilhan Asya Tanju
Journal:  J Clin Res Pediatr Endocrinol       Date:  2009-11-06

8.  Combined occurrence of diabetes mellitus and retinitis pigmentosa.

Authors:  Afaf Al-Adsani; Fadl Abdel Gader
Journal:  Ann Saudi Med       Date:  2010 Jan-Feb       Impact factor: 1.526

9.  Alström syndrome: a case misdiagnosed as Bardet-Biedl syndrome.

Authors:  D S Dyer; M E Wilson; K W Small; G S Pai
Journal:  J Pediatr Ophthalmol Strabismus       Date:  1994 Jul-Aug       Impact factor: 1.402

Review 10.  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
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  3 in total

1.  Follicular variant of papillary thyroid cancer in Alström syndrome.

Authors:  M Papadakis; A Meyer; F Schuster; N Weyerbrock; C Corinth; C Dotzenrath
Journal:  Fam Cancer       Date:  2015-12       Impact factor: 2.375

2.  Alström Syndrome: Mutation Spectrum of ALMS1.

Authors:  Jan D Marshall; Jean Muller; Gayle B Collin; Gabriella Milan; Stephen F Kingsmore; Darrell Dinwiddie; Emily G Farrow; Neil A Miller; Francesca Favaretto; Pietro Maffei; Hélène Dollfus; Roberto Vettor; Jürgen K Naggert
Journal:  Hum Mutat       Date:  2015-05-18       Impact factor: 4.878

3.  A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants.

Authors:  Maria F Shurygina; Maria A Parker; Catie L Schlechter; Rui Chen; Yumei Li; Richard G Weleber; Paul Yang; Mark E Pennesi
Journal:  BMC Ophthalmol       Date:  2019-12-07       Impact factor: 2.209
  3 in total

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