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Editor,—The osteoporosis pseudoglioma syndrome (OPS) is a rare autosomal recessive disorder characterised by severe juvenile onset osteoporosis and congenital or juvenile onset blindness. Over 40 cases have been documented but reports in the ophthalmic literature are exceedingly rare and we believe this is the first recorded case in the United Kingdom.
CASE REPORT
A white, male infant was noted by his parents to have roving eye movements and poor vision at 5 weeks of age. The pregnancy, delivery, and neonatal period were normal. On examination at 12 weeks of age he had very poor visual responses and variable horizontal nystagmus. Fundal examination showed a disordered retina with bilateral retrolental masses (Fig 1). This was confirmed by ultrasound scan and examination under anaesthesia.
A clinical diagnosis of retinal dysplasia associated with …