Published in:
01-10-2009 | IMAGES IN METABOLIC MEDICINE
Retinal detachment causing unilateral blindness in a 12-year-old girl with gyrate atrophy
Published in: Journal of Inherited Metabolic Disease | Issue 5/2009
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A 12-year-old girl presented with severe deterioration in vision over several months, worse in the right eye. On examination, she was unable to count fingers or perceive light using her right eye, and the red reflex was absent (Fig. 1). Funduscopy showed a chronic retinal detachment and severe chorioretinal atrophy with punched-out lesions in the periphery of the retina, consistent with gyrate atrophy. Similar but milder peripheral retinal findings were seen on the left (Fig. 2). The patient’s father was Finnish and there was no consanguinity.
Fig. 1
Absence of red reflex in right eye
Fig. 2
Several chorioretinal atrophy with punched out lesions in the periphery of the retina of the left eye consistent with gyrate atrophy
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