An 18-month-old girl presented with the ocular findings of severe ptosis of the right upper lid, astigmatism and the Adduction Fixation Preference. She also had psychomotor retardation and multiple congenital anomalies. The karyotype revealed an interstitial deletion of the long arm of chromosome 5 at q 12. This is the first description of the ophthalmological findings in this chromosomal disorder.
A 56-year-old myope developed a retinal detachment of the macular area and the temporal quadrants in his left eye that harbored a temporally-located pit of the optic nerve head. Under anesthesia a small peripheral retinal break was identified, and the retina was reattached successfully using cryotherapy and a limited scleral buckling procedure. Peripheral retinal breaks should be searched for in myopic eyes with optic pits and retinal detachments involving peripheral retinal quadrants.
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