PMC3785355_01
Clinical photograph of the patient at birth.
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Clinical manifestations disclosed dysmorphic features including high forehead, large rectangular nose continuing to the eyebrows, hypertelorism, low-set ears and carp-shaped mouth (Fig. 1).
Fundus image of the right eye at 57 days after birth. Note the wide avascular retina with markedly progressed tractional changes.
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Both eyes were treated immediately, but dense laser photocoagulation with early re-treatment could not stop the progression to bilateral retinal detachment (Fig. 2).
Brain magnetic resonance imaging performed on day 217.. A: Axial T1-weighted section showing enlargement of lateral ventricles with a frontal large cyst.. B: Parasagittal T1-weighted section showing a distinct enlargement of lateral ventricle and global reduction of white matter volume.
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Brain MRI performed on the 217th day showed extensive reduction of cerebral hemisphere white matter with a large frontal cystic change (Fig. 3).