Multimodal imaging in non-syndromic microphthalmia: a case series

Microphthalmia is a rare congenital or developmental anomaly in which the globe is abnormally small. Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated. We aimed to describe the clinical and paraclinical features of nonsyndromic microphthalmia through three cases. The first patient was an 8-year-old female child who presented with bilateral refractive accommodative esotropia due to hypermetropia. She was diagnosed with bilateral posterior microphthalmia qualified as non-syndromic and simple. Eyeglasses prescription has been upgraded and a 6-month clinical monitoring has been undertaken. The second case was about a 16-year-old female patient who had a bilateral amblyopia due to a non-syndromic microphthalmia. She presented with unilateral high intra-ocular pressure. Anterior Segment OCT showed unilateral narrow angle with iridotrabecular contact in the right eye. Microphtalmia has been qualified as complex in the right eye and simple in the left eye. The patient has been put under IOP-lowering topical medication for the OD and peripheral YAG laser iridotomy has been performed. IOP reduction was noticed within five days. The third case was a 7-year-old male child with bilateral non-syndromic complex nanophthalmia. Ophthalmic examination revealed bilateral microcornea and OCT of the macula showed bilateral retinal folds with apical surface corrugations. Optical correction and active surveillance were adopted. Non-syndromic microphthalmia is a rare and potentially blinding disease. We highlighted the interest of ocular ultrasound, especially in young hypermetropic children completed by an examination in OCT. Non-invasive, objective and repeatable, OCT seems to be of great interest in both the diagnosis and the monitoring of microphthalmia.