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arturo carta, stefania favilla, Paolo Mora, Giacomo Calzetti, maria cristina casalini, Stefano Gandolfi; THE EPIDEMIOLOGY OF MOEBIUS SYNDROME. Invest. Ophthalmol. Vis. Sci. 2020;61(7):2146.
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© ARVO (1962-2015); The Authors (2016-present)
To describe the epidemiology of Moebius Syndrome (MBS) in a well defined population over a precise geographical area.
Since 1998 the University Hospital of Parma has been identified by the Italian Association of Moebius Syndrome (AISMO) and by the Regional Health Department as the only national referral center for the diagnosis and for the medical treatment (from strabismus correction to smile surgery) for patients with MBS. This remarkable condition allowed us to contact and follow-up virtually all the MBS patients living in Italy with a clear diagnosis made according to the “Bethesda’ Criteria”. Demographic data necessary for our purposes were made available by AISMO database updated to April 2018. Subjects were assigned to the five geographical macro-areas (i.e. Northeast, Northwest, Central, South and Islands) conventionally used for surveys and epidemiological investigations on the Italian territory. Every study parameter was then calculated by reference to the whole country and to macro-area partition. Rates and prevalence (number of cases per 100,000 people) of the MBS were calculated referring to the last Survey of the Italian population of 2018 by the National Institute of Statistics (ISTAT). Gender rate and the corresponding prevalence were calculated with respect to the weighted whole population and to the respective gender population. Chi-square (c2) analysis was adopted to investigate possible differences among geographical regions and/or gender. A p value <0.05 was considered statistically significant.
164 out of 212 MBS patients satisfied our inclusion criteria. All cases were Caucasian and sporadic. The median age at diagnosis was 3.6 years (range: 0-55); this range was significantly reduced to 0-5 years (median age at diagnosis: 2.2 years) for patients evaluated after 2007. The birth prevalence calculated was 0.06 cases per 10,000 live births with an overall prevalence of 0.27/100000 without any gender or geographical predisposition.
The rate of MBS prevalence herein observed, rounded for possible underestimation, is 0.3/100000 people without any geographical difference in the distribution of the cases. Applying the new diagnostic criteria allowed an earlier diagnosis and eventual therapy, thus minimizing the psychological and social impact of this disease. According to our data MBS must be considered a rare disease but not so rare as postulated by previous researchers on their personal basis.
This is a 2020 ARVO Annual Meeting abstract.
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