Clinical features of the retinopathy, globe enlarged (rge) chick phenotype

The purpose of the study reported here was to characterize the clinical aspects of the autosomal recessive retinopathy, globe enlarged (rge) phenotype in chicks (Gallus gallus). Rge/rge, rge/+ and +/+ chicks were studied from hatch to 336 days of age by general clinical examination, post-mortem examination, vision testing with an optokinetic device, ophthalmoscopy, biomicroscopy, tonometry, central corneal pachymetry, a-mode ultrasonography, infrared photoretinoscopy and photokeratometry. Additionally, preliminary electroretinographic and histopathologic investigations were performed. There is a variable degree of vision loss in rge/rge chicks at 1 day of age with further chicks losing vision over the next few weeks until all chicks become functionally blind by 30 days of age (although some optokinetic responses remain in some of the rge/rge chicks). Over the first few weeks of life rge/rge chicks develop thicker corneas with a larger radius, hyperopia, shallower anterior chambers and enlarged globes both radially and axially, compared to controls. A preliminary ERG study showed that 1 day old rge/rge chicks have an elevated response threshold, a lower amplitude a-wave with a markedly shallow leading slope, a lack of both oscillatory responses and c-waves and, at brighter flashes, an increased b-wave amplitude. Light microscopy revealed no gross retinal abnormalities in young chicks to account for the blindness. A thinning of all retinal layers developed in parallel with globe enlargement. The rge defect is a unique progressive retinal dystrophy that results in a severe visual deficit, abnormal electroretinographic waveforms, and secondary globe enlargement.