Rhegmatogenous retinal detachment in a case of atrophia gyrata: Pars plana vitrectomy with silicone oil tamponade

Background Gyrate atrophy is a form of choroidal dystrophia characterized by a genetic defect of the mitochondrial matrix enzyme ornithine ketoacidoaminotransferase on chromosome 10. Apart from rare myopathic problems, cases of choroidal, iridal atrophy, complicated subcapsular cataract, optic atrophy, macular edema, reticular retinoschisis, vasculitis and perivasculitis could be observed so far. To our knowledge, rhematogenous retinal detachment has been described before. We present a 34-year-old female subject with a retinal detachment of the right eye over 3 quadrants with 3 small round foramina in the area 10 to 11 o'clock. Patients Concentric defects of the visual field had been known since the age of 4; the patient was slightly myopic. At the age of 31, the patient had undergone cataract extraction with implantation of posterior chamber lenses in both eyes. The ophthalmological examination revealed large areas of choroidal atrophia in both eyes. A determination of visual acuity resulted in hand movements in the right eye and 0.1 in the left eye. The ERG was extinguished. Results The retina could be fully reattached by pars plana vitrectomy and instillation of silicone oil. At the same time, we performed an excision of secondary cataract. On demission, the visual acuity of the right eye was finger counting. Because a brother of the patient had also suffering from a progressive choroidal atrophy since his childhood, an autosomal recessive disease was suspected. The only abnormality detected was strongly elevated plasma levels of ornithin (7.5 to 14 mg/dl, compared to levels of 0.6 to 2.0 in controls). Urinary excretion of ornithin was also strongly increased. Discussion To our knowledge there was no previous description of a case of atrophia gyrata in association with rhegmatogenous retinal detachment after intraocular surgery. As the pigment epithelium is missing, intraoperative endolaser-coagulation would be useless. For this reason, and since a tendency for reattachment is lacking consistent with one of the characteristics of this disease, the only approach to this case is intraocular tamponade with silicone oil.