Exudative retinopathy in a girl with alstrom syndrome due to a novel mutation

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

“…In addition, development of subcapsular cataracts may contribute to vision loss [ 3 , 6 ]. Exudative retinopathy has also been reported in AS [ 12 ]. Meanwhile, ~80 % of affected individuals will develop bilateral sensorineural hearing loss [ 3 ].…”

Neovascularization of the optic disc and peripheral retinal ischemia in a child with a novel variant in ALMS1 (Alström syndrome)

“… 1 Neovascularization in Alström syndrome is rare, and a single case of peripheral retinal ischemia with retinal telangiectasias and exudative retinopathy has been previously reported. 2 We present the first case, to our knowledge, of optic disc neovascularization in a patient with Alström syndrome.…”

Meta-analysis of genotype-phenotype associations in Alström syndrome

“…Articles whose diagnosis of ALMS was based solely on phenotype were discarded, (Charles et al, 1990; Holder et al, 1995; Russell-Eggitt et al, 1998; Koray et al, 2001; Worthley and Zeitz, 2001; Benso et al, 2002; Satman et al, 2002; Paisey et al, 2004; Hoffman et al, 2005; Hamamy et al, 2006; Koç et al, 2006; Gogi et al, 2007; Silan et al, 2013; Bronson et al, 2015; Boerwinkle et al, 2017; Davies et al, 2018), as well as those that simply presented or reported the patient’s mutations without giving an complete (Lazar et al, 2015) or individualised clinical history (Patel et al, 2006; Marshall et al, 2007b, 2015; Redin et al, 2012; Kilpinen et al, 2017; Gao et al, 2019; Baig et al, 2020). From an initial selection of 108 studies, 31 (Millay et al, 1986; Charles et al, 1990; Holder et al, 1995; Russell-Eggitt et al, 1998; Koray et al, 2001; Worthley and Zeitz, 2001; Benso et al, 2002; Satman et al, 2002; Wu et al, 2003; Iannello et al, 2004; Paisey et al, 2004; Hoffman et al, 2005; Marshall et al, 2005, 2007b, 2015; Koç et al, 2006; Patel et al, 2006; Hamamy et al, 2006; Gogi et al, 2007; Hitz et al, 2008; Catrinoiu et al, 2009; Redin et al, 2012; Silan et al, 2013; Lazar et al, 2015; Bronson et al, 2015; Ahmad et al, 2016; Huang et al, 2016; Lindsey et al, 2017; Boerwinkle et al, 2017; Gao et al, 2019; Baig et al, 2020) were discarded and 76 (Titomanlio et al, 2004; Bond et al, 2005; Minton et al, 2006; Joy et al, 2007; Özgül et al, 2007; Malm et al, 2008; Aldahmesh et al, 2009; Khoo et al, 2009; Liu et al, 2009; Kocova et al, 2011; Wang et al, 2011, 2016a, …”

“…After a thorough reading of the article, the study was included if the following characteristics were met: the cohort of the article included a patient with a diagnosis of ALMS, and the diagnosis had a genetic and clinical characterisation. Articles whose diagnosis of ALMS was based solely on phenotype were discarded, (Charles et al, 1990;Holder et al, 1995;Russell-Eggitt et al, 1998;Koray et al, 2001;Worthley and Zeitz, 2001;Benso et al, 2002;Satman et al, 2002;Paisey et al, 2004;Hoffman et al, 2005;Hamamy et al, 2006;Koç et al, 2006;Gogi et al, 2007;Silan et al, 2013;Bronson et al, 2015;Boerwinkle et al, 2017;Davies et al, 2018) , as well as those that simply presented or reported the patient's mutations without giving an complete (Lazar et al, 2015) or individualised clinical history (Patel et al, 2006;Marshall et al, 2007bMarshall et al, , 2015Redin et al, 2012;Kilpinen et al, 2017;Gao et al, 2019;Baig et al, Bea-Mascato et al, 2021;Saadah et al, 2021;Srikrupa et al, 2021;Zhang et al, 2021) were selected for information extraction and subsequent analyses.…”