ePoster listing and sessions

Topic: ESOPRS 2021 ePoster sessions
Time: Sep 17, 2021 16:00 Amsterdam, Berlin, Rome, Stockholm, Vienna, 15:00 London

 

 

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Isolated anophthalmia and microphthalmia in a newborn with ALDH1A3 mutation

Author: Mário Lima Fontes
ePoster Number: 292


Purpose

This work aims to present the clinical case of a newborn with right anophthalmia and a concomitant left microphthalmia.


Methods

Analysis of a case report.


Results

A newborn was referred to a pediatric appointment due to a prenatal diagnosis of a bilateral ocular malformation. At observation, there was no evidence of the right eye, and a mass was found on the left orbit. Orbital ultrasound, CT and MRI examination confirmed the absence of the right globe and the presence of a cystic lesion in the left orbit. Both the newborn and the mother serologies were negative for microorganisms of the TORCH group. The genetic study revealed two probable pathogenic variants in the aldehyde dehydrogenase 1 family, member A3 (ALDH1A3) gene. At 3 months old, an expander was placed in the right orbital cavity. One year later, the cystic lesion in the left orbit was excised and the anatomopathological examination revealed that it was in fact the remnants of the eye. An expander was also placed in the left orbit. The patient is currently being followed in ophthalmology, pediatrics and physical rehabilitation appointments and does not present signs of other systemic malformations.


Conclusion

Anophthalmia and microphthalmia are early-eye-development anomalies resulting in absent or small ocular globes, respectively. The combined birth prevalence of these conditions is up to 30 per 100,000 population. Mutations in the ALDH1A3 gene have been found in association with autosomal recessive anophthalmia and microphthalmia in individuals of different ethnicities, typically from consanguineous families. ALDH1A3 is a key enzyme in the formation of a retinoic acid gradient along the dorsoventral axis during early eye development. This clinical case shows autosomal recessive anophthalmia and microphthalmia in a newborn with ALDH1A3 mutation and non-related parents.


Additional Authors

First nameLast nameBase Hospital / Institution
MarianaLeuzinger DiasCentro Hospitalar Universitário de São João, Porto, Portugal
JorgeMeiraCentro Hospitalar Universitário de São João, Porto, Portugal
SérgioEstrela SilvaCentro Hospitalar Universitário de São João, Porto, Portugal
AugustoMagalhãesCentro Hospitalar Universitário de São João, Porto, Portugal
VítorLealCentro Hospitalar Universitário de São João, Porto, Portugal

Abstract ID: 21-199