Relevance of Identifying JAG1 Mutations in Patients With Isolated Posterior Embryotoxon.
Orssaud Christophe, Robert Matthieu P, Roche Olivier
AI Summary
Isolated posterior embryotoxon can be the sole sign of Alagille syndrome. Clinicians should investigate other organs and consider JAG1 mutation testing, even with normal eye pressure, to identify this systemic condition.
Abstract
Purpose
Although posterior embryotoxon (PE) has a high incidence in the general population, clinicians should exclude any sign of glaucoma in its presence. This anatomic abnormality is often referred to as "isolated" when the intraocular pressure is normal. Nevertheless, it may be the only sign of Alagille syndrome (AS) that can be clinically heterogenous, as presented here. This possibility must be known, to look for involvement of other organs, and in case of suspicion, mutation of the JAG1 gene must be considered.
Methods
In this case series, we present the observation of a family with 3 individuals from 3 generations, in whom PE was a marker of AS.
Results
PE were observed in these 3 patients and considered as "isolated" as the intraocular pressure was normal. The 2 elder patients were also followed for atypical retinal dystrophy with speckling of the retinal pigment and optic disc drusen. AS syndrome was suspected when mild liver dysfunction was detected in the youngest girl. The detection of JAG1 mutation confirmed this diagnosis.
Conclusions
As AS can be clinically heterogenous, it must be considered in case of isolated PE. Involvement of other organs must be looked for to search for mutation of the JAG1 gene in relevant cases.
MeSH Terms
Shields Classification
Key Concepts4
Posterior embryotoxon (PE) can be the only sign of Alagille syndrome (AS), which can be clinically heterogeneous.
In a family with 3 individuals from 3 generations, posterior embryotoxon (PE) was a marker of Alagille syndrome (AS).
In 3 patients with posterior embryotoxon (PE) and normal intraocular pressure, Alagille syndrome (AS) was suspected when mild liver dysfunction was detected in the youngest girl, and JAG1 mutation detection confirmed the diagnosis.
In patients presenting with isolated posterior embryotoxon (PE), involvement of other organs should be investigated to identify relevant cases for JAG1 gene mutation testing, as Alagille syndrome (AS) can be clinically heterogeneous.
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