Achromatopsia is a hereditary form of day blindness caused by cone photoreceptor dysfunction. Affected patients suffer from congenital color blindness, photosensitivity, and low visual acuity. Mutations in the CNGA3 gene are a major cause of achromatopsia, and a sheep model of this disease was recently characterized by our group. Here, we report that unilateral subretinal delivery of an adeno-associated virus serotype 5 (AAV5) vector carrying either the mouse or the human intact CNGA3 gene under the control of the red/green opsin promoter results in long-term recovery of visual function in CNGA3-mutant sheep. Treated animals demonstrated shorter maze passage times and a reduced number of collisions with obstacles compared with their pretreatment status, with values close to those of unaffected sheep. This effect was abolished when the treated eye was patched. Electroretinography (ERG) showed marked improvement in cone function. Retinal expression of the transfected human and mouse CNGA3 genes at the mRNA level was shown by polymerase chain reaction (PCR), and cone-specific expression of CNGA3 protein was demonstrated by immunohistochemisrty. The rescue effect has so far been maintained for over 3 years in the first-treated animals, with no obvious ocular or systemic side effects. The results support future application of subretinal AAV5-mediated gene-augmentation therapy in CNGA3 achromatopsia patients.

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Objective To evaluate the causes, incidences, characteristics, and treatment outcomes of paediatric vs adult retinal detachment. Patients and methods One hundred and sixty (136 patients) out of 2408 consecutive retinal detachments (6.6%) at our facility occurred in children under the age of 18 years. Of them, 144 eyes (90%) of 127 (93%) children were treated and compared with a sample of 56 consecutive retinal detachments in 50 adults (over the age of 18 years). The parameters for comparison included cause, type of retinal detachment, its extent, macular involvement, number of tears, number and types of surgery, and the anatomic and functional surgical outcome. Results Statistically significant differences were found in the type of retinal detachment. Rhegmatogenous RD was less common (P ¼ 0.004), and exudative RD was more common (P ¼ 0.021) in the paediatric group. Ocular trauma and ocular syndromes were more common in the paediatric group (Po0.001), while myopia, posterior vitreous detachment, and retinal detachment following cataract surgery were less common in this group compared with adults (Po0.001, o0.001, and 0.001, respectively). Ocular pathologies associated with retinal detachment were more common in the paediatric group (Po0.001). Initial and last visual acuity of 420/400, last visual acuity of 420/40, and retinal complete reattachment were higher in adults (Po0.001). Conclusions The type of retinal detachment, causes and outcomes were statistically different between paediatric and adult cases. The less successful functional and anatomical outcomes of retinal detachment surgery in children may reflect the different aetiologies and indicate the need for aetiology-specific treatment strategies according to each aetiology.

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