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Confocal microscopy in a family with cryopyrin-associated syndrome carrying a p.R260W detected mutation

Poster Details

First Author: I.Hernanz SPAIN

Co Author(s):    I. Hernanz   N. Alejandre   F. Blanco-Kelly   O. Sanchez-Pernaute           

Abstract Details


To describe genetic and phenotypically a family of four suffering from Cryopyrin Associated Syndrome (CAS) diagnosed after ophthalmological evaluation.


Descriptive case-report study based on out-patients of Jimenez Diaz Foundation University Hospital.


Medical and familiar history from both proband and relatives, including genealogical study, was compiled. Moreover, exhaustive ophthalmological and systemic examination was undertaken, as well as confocal microscopy and clinical images. Exon 3 of NLRP3 gene was amplified and sequenced from patients DNA.


The proband, was admitted during an episode of unilateral acute anterior uveitis (UAAU). Her ocular history revealed alternating UAAU since childhood, whereas her anamnesis notified a history of skin rash and arthralgia triggered by cold. Her ocular examination showed a reticulated mid stroma. Her mother and sister also suffered from recurrent history of red sore eye and weekly episodes of urticaria and arthralgia, mostly in winter. Both had developed premature hearing loss. Related to ocular examination, opacification of mid and posterior stroma was evidenced in both cases. The genetic analysis detected the heterozygous p.R260W mutation. Treatment with Anakinra removed symptoms.


Detection of NLRP3 mutation associated with CAS, in context of compatible signs and symptoms, highly suggests being the cause of corneal opacities and acute anterior uveitis in this family. Therefore, multidisciplinary approach, especially focused on ophthalmological evaluation, is essential for correct diagnosis and treatment, since it can lead to visual impairment. However, longitudinal studies will be helpful to understand this disease.

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