Peripheral Ischemic Retinopathy in Adams-Oliver Syndrome

Abstract

Results. As shown in the Table, by comparison with the GG genotype, the TT genotype was associated with very high risk for all types of ARM, with increasing odds ratios according to the severity of ARM (from 4.60 for early ARM1 to 23.63 and 16.15 for late atrophic and neovascular ARM, respectively). By contrast, associations of the different types of ARM with the GT genotype were modest (OR, 1.45-2.47) and reached statistical significance only for early ARM1. Smoking and CFH Y402H remained independently associated with ARM, after controlling for ARMS A69S genotypes (data not shown). Comment. This population-based study confirms the major contribution of the TT genotype of the ARMS2 A69S polymorphism in early and late ARM, independently from the other 2 major risk factors (smoking and CFH Y402H polymorphism). Associations with the GT genotypes were much weaker, suggesting a moderate codominant genetic mode of action. Strengths of this study include the population-based setting and the photographic assessment and detailed grading of ARM status.

Diffuse angiopathy in Adams‐Oliver syndrome associated with truncating DOCK6 mutations

“…Incomplete retinal vascularization has been reported previously in two patients with AOS, plus we have noted it a third, unreported time. In two of these patients [Patel et al, ‐ patient 1; Peralta‐Calvo et al, ] DOCK6 was analyzed by our group and no mutations were found (data unpublished). Normal retinal vascularization requires intact pericyte function, supporting the hypothesis that pericyte dysfunction plays a key role in the pathogenesis of the AOS vasculopathy [Patel et al, ; Liu et al, ].…”

Proliferative Retinopathy in a 13-Year-Old With Adams–oliver Syndrome

“…1,2 Because early mortality in AOS is common when it is associated with internal organ involvement and/or ophthalmologic manifestations, its retinal associations have not been well-characterized. 3,5,6 The ability to perform clinic-based multimodal fundus imaging in this 13-year-old patient made it possible to comprehensively document some of the retinal manifestations of AOS.…”

Síndrome de Adams-Oliver

“…A gravidade das malformações varia de sutil a desabilitante ou com risco de vida; a variabilidade entre membros da mesma família é comum. Apesar de rara, a morbimortalidade grave na AOS geralmente é resultado de hemorragia ou infecção envolvendo grandes e profundas lesões na calota craniana, ou de anomalias cardiovasculares, incluindo malformações cardíacas graves 5 .…”

“…Embora um mecanismo fisiopatológico claro não tenha sido reconhecido na AOS, um comprometimento vascular em áreas de watershed, com ou sem faixas amnióticas secundárias ou compressão externa durante a gravidez, tem sido sugerida como uma possível origem para AOS 2,6 . É proposto que uma instabilidade geneticamente diminuída dos vasos sanguíneos embrionários e/ou uma regulação anormal do endotélio possam induzir às anomalias relacionadas com a AOS, uma vez que há um comprometimento da vasculogênese sob a forma de perfusão reduzida e isquemia 5,7 .…”

“…A síndrome de Adams-Oliver (AOS) é uma desordem congênita rara, autossômica/recessiva/ou esporádica, caracterizada por aplasia cútis congênita e defeitos nos membros transversais terminais 5,6,7,9 . A co-ocorrência esporádica desses dois achados foi primeiramente relatada por Pincherle, em 1938, sete anos antes da descrição por Adams e Oliver de uma grande família com vários membros afetados, em 1945 3,7 .…”