A Case of Hydranencephaly in Which Ophthalmic Examinations Were Performed.

PURPOSE:We performed ophthalmic examinations, including optical coherence tomography (OCT), on a case diagnosed with hydranencephaly. CASE REPORT:This case involved a female infant born at the gestational age of 35 weeks and 4 days, with the birth weight of 2,152 g, who was one of monochorionic diamniotic twins, and the identical twin died in utero at the gestational age of 24 weeks. After that, examination by fetal echo indicated that she had microcephaly and ventriculomegaly. Postnatal magnetic resonance imaging (MRI) of her head indicated microcephaly and significant enlargement of the lateral ventricle on both sides, with no obvious signs of elevated intracranial pressure. The brain parenchyma of both sides of the frontal lobe, parietal lobe, and occipital lobe had marked thinning, yet that of the temporal lobe, basal ganglia, thalamus, brain stem, and cerebellum had been maintained. Moreover, no obvious hematoma or neoplastic lesions were observed. Ophthalmic examinations indicated that both of her eyes had slight light reflex, attributed to optic nerve atrophy. Examination by use of a hand-held OCT system indicated a layered structure of the retina and thinning of the ganglion cell layer. Flicker electroretinogram (ERG) examination by use of a hand-held ERG system indicated an almost normal wave. However, no clear visual reaction was observed when she was 10 months old. CONCLUSION:Our findings in this case of hydranencephaly revealed that even though the outer layer functions of the patient's retina were maintained, extensive damage to her cerebral cortex resulted in poor visual function.