Ocular manifestations of a rare case of Miller-Dieker syndrome

Authors : Shwetha Hebbale Ramakrishna, Sushma R S

DOI : 10.18231/j.ijceo.2020.067

Volume : 6

Issue : 2

Year : 2020

Page No : 308-311

We report a rare case of a five-year-old female child who was diagnosed with Miller-Dieker syndrome.
She had global developmental delay, seizures, facial dysmorphic features and type 1 lissencephaly on
Magnetic resonance imaging of brain. Her ocular manifestations included strabismus, torsional nystagmus,
high myopic astigmatism and tortuous retinal vessels.

Keywords: Miller- dieker syndrome, Dysmorphism, Lissencephaly, Nystagmus, Strabismus.


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