A 13-year-old healthy male (proband III:2 in the pedigree presented later) presented with acute onset vision loss in the right eye first, followed by the left eye two weeks later. He was the child of an uncomplicated pregnancy, born to a 40-year-old mother with low vision and severe bilateral optic atrophy and a normally sighted 43-year-old healthy father.
On initial examination, the best corrected visual acuity was counting fingers at one foot in the right eye and 10/200 in the left eye. Pupillary responses were normal with no afferent pupillary defect or paradoxical pupil. The slit lamp examination was normal. Fundus examination showed peripapillary telangiectasia, mild optic nerve head edema, and vascular tortuosity in both eyes, as seen in the photo. MRI brain and orbit with contrast were normal.
Case study provided by Dr. Nutsuchar Wangtiraumnuay, MD. Sirikit National Institute of Child Health