EP06.68: Microphthalmia‐anophthalmia in a tertiary centre: frequency and most relevant associated malformations evaluated by MRI in a 19‐year period

Microphthalmia-anophthalmia are rare malformations and are related to severe malformations of the central nervous system. The aim of this study is to evaluate the frequency of microphthalmia and anophthalmia evaluated by MRI in a tertiary centre. A review of all cases of fetal MRI performed between April 2004 and February 2023 to evaluate the frequency of cases of microphthalmia and anophthalmia that were diagnosed during this period and their relevant associated malformation. After the review of 2,231 fetal MRI, 19 cases of microphthalmia-anophthalmia were diagnosed during the period (1.17% of fetal MRI examinations). The median gestational age was 28.5 weeks. The bilateral form of the malformation was the most frequent, with 79% of cases, with bilateral microphthalmia with 63.1% and bilateral anophthalmia with 15.7% of cases. The cases with bilateral malformation, 66% presented a severe form of holoprosencephaly, and 26% presented some central nervous system malformation. Only one case of bilateral microphthalmia was caused by amniotic band. The unilateral microphthalmia was present in 21% of cases and no cases of unilateral anophthalmia was found. The unilateral malformation was related to central nervous system malformations (10% of total cases) and to amniotic band and Zika virus infection (5% of total cases for both etiological causes). Microphthalmia-anophthalmia is a rare condition, even in tertiary centres. The bilateral malformation was the most frequent and severe malformations of the central nervous system was the most frequent associated malformation.