Dominantly inherited unilateral retinal dysplasia.

2 Eye Hospital. His left eye had been noted to be clinically small with an abnormal pupil and a white pupillary reflex. His general practitioner and the family were under the impression that there was a strong family history of retinoblastoma. An examination was performed under anaesthesia. The right eye was normal. The left eye was microphthalmic with a horizontal corneal diameter of 9-5 mm (right corneal diameter 11 mm). There were very prominent iris vessels and temporal posterior synechiae (Fig 2). The pupil dilated poorly. A white retrolental mass with an adherent strand to the posterior surface of the lens was present (Fig 3A). There was a large area of retinal fold (Fig 3B) and disorganised retinal vasculature. No calcification was apparent. Axial length was 14 mm (right 19-4 mm). The child was reviewed again at 18 months of age. Examination of the right eye demonstrated good fixation and following. No fixation was apparent with the left eye which had become esotropic. There was no evidence of secondary glaucoma. His general growth and development were normal and audiometric assessment indicated normal hearing. General physical examination was unremarkable and in particular there were no dysmorphic features and no neurocutaneous stigmas. The proband's mother (IV-3) had been noted to have a 'missing pupil' in her right eye at the age of 2 months. Following ophthalmic referral, the right eye was enucleated for suspected retinoblastoma. A pathological diagnosis of faulty retinal coaptation with secondary glaucoma and ocular enlargement was recorded in the original pathological records but, despite this, she subsequently underwent regular examinations of the other eye until adulthood. No further ocular