Autosomal dominant chondrodysplasia punctata or Conradi-Hunermann disease¹ is a rare disorder with variable expressivity. It is characterised by dysplastic skeletal changes with premature punctate epiphyseal and paravertebral calcification, associated with moderate growth deficiency, scoliosis, limb asymmetry, flexion contractures of the hips, knees and elbows, talipes equinovarus, short neck, frontal bossing, nasal bone hypoplasia with characteristic “koala” facies and dystrophic changes in hair and skin.^2,3 Among the ocular features reported, cataracts are by far the most common, occurring in about 20% of cases of Conradi-Hunermann disease compared with a much higher incidence (>66%) in the more severe (and usually lethal) autosomal recessive and X linked dominant forms the disease.^2,4,5 In addition, optic atrophy, microphthalmos, iris hypoplasia, and Axenfeld-Rieger syndrome have been described.^6,7

Case report

We describe unusual vitreoretinal abnormalities in a 28 year old woman with Conradi-Hunermann disease. Her original diagnosis had been made in childhood based on clinical and radiological …