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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
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 grounds, and she had undergone numerous cosmetic and reconstructive procedures on her nose, jaw, and lower limbs, as well as right cataract surgery at the age of 18 years for cortical lens opacity. Refraction showed low hyperopia and her left eye, also affected by cataract, had been considered amblyopic. She presented to us with a short history of photopsia and floaters in the left eye, but with no change to her corrected Snellen visual acuities of 6/12 right and 6/36 left.
Anterior segment examination revealed lower lid distichiasis and quiet pseudophakia on the right, and peripheral cortical lens opacities and a small pupil on the left. Her intraocular pressures were normal. Funduscopy showed healthy discs and maculae, with temporal dragging of vessels on the right (as had been noted many years previously). No posterior vitreous detachment was evident in either eye, but a number of unusual vitreoretinal tractional complexes were present, more marked on the left, with underlying retinal pigment epithelium disturbance (fig 1). The fundal view on the left was impaired by the cortical cataract and small pupil.
Strands of condensed vitreous emanated from each complex, pulling partial and full thickness operculae. The right eye showed flatter complexes, which appeared more stable, with less traction. In the left eye the precise nature of some of the tractional complexes was difficult to ascertain because of the cortical cataract and small pupil: it was uncertain whether they represented tractional schisis or full thickness combined tractional and rhegmatogenous lesions. A group of three such lesions was located just temporal to the macula in the left eye.
Given the unstable appearance and symptomatic nature of the left eye, the tractional lesions associated with retinal breaks were treated by argon laser retinopexy. One of the three temporal tractional complexes was untreatable with laser because of the cortical lens opacity.
Two weeks later the patient noticed a nasal visual field disturbance associated with photopsia in the left eye. She had developed a partial posterior vitreous detachment with a temporal rhegmatogenous retinal detachment transecting the macula, secondary to breaks associated with the temporal tractional complexes.
She subsequently underwent left phacoemulsification, intraocular lens implantation, pars plana vitrectomy, encirclement, endolaser, cryotherapy, and C3F8 gas injection. During the surgery the condensed vitreous was found to be very adherent to the tractional complexes; multiple retinal breaks opened up within the complexes and also in a few areas of apparently “normal” retina. Postoperatively the retina was flat, but she developed raised intraocular pressure associated with a fibrinous anterior uveitis and iris bombé—this settled with topical therapy and Nd:YAG laser peripheral iridotomy. Six weeks later an inferotemporal redetachment secondary to proliferative vitreoretinopathy occurred. This was treated successfully by membrane peel, endolaser, and gas tamponade. Her retina has remained flat since, with a Snellen visual acuity of 6/36 in this left amblyopic eye.
We describe previously unreported vitreoretinal abnormalities in a patient with Conradi-Hunermann disease. The pathogenesis of these lesions is not understood, but it may not be surprising that yet another skeletal dysplasia is associated with vitreoretinal changes.8 Identification of the underlying genetic defect in this particular variant of chondrodysplasia punctata may provide insight into the development of both bone and vitreous. We hope that better reporting of vitreoretinal features in Conradi-Hunermann syndrome will help improve understanding and management of this condition.