PURPOSE To investigate outer retinal tubulation (ORT) using spectral domain optical coherence tomography (SD-OCT) and an adaptive optics scanning laser ophthalmoscope (AOSLO). To document the frequency of ORT in atrophic retinal conditions and quantify ORT dimensions versus adjacent retinal layers. METHODS SD-OCT images were reviewed for the presence of retinal atrophy, scarring, and/or exuda...

Familial dysautonomia (FD) is an autosomal recessive congenital neuropathy that is caused by a mutation in the gene for inhibitor of kappa B kinase complex-associated protein (IKBKAP). Although FD patients suffer from multiple neuropathies, a major debilitation that affects their quality of life is progressive blindness. To determine the requirement for Ikbkap in the developing and adult retina...

We reviewed the literature on ornithine supplementation and related topics. Nutritionists and physicians have reported that ornithine supplementation is useful. Paediatricians and biochemists have reported that ornithine is supplemented for NH(3) detoxification in the hyperornithinaemia-hyperammonaemia-homocitrullinuria (HHH) syndrome. In contrast, ophthalmic researchers have reported retinotox...

Colchicine is known to inhibit axoplasmic transport in ganglion cells. Previous studies have shown considerable, but largely reversible, retinal changes after low dosages of intravitreal colchicine in experimental animals. In the present study, the effects of 1.0 to 100 micrograms of intravitreal colchicine in monkeys were studied by ophthalmoscopy, light microscopy, and electron microscopy. Op...

We reviewed the literature on ornithine supplementation and related topics. Nutritionists and physicians have reported that ornithine supplementation is useful. Paediatricians and biochemists have reported that ornithine is supplemented for NH3 detoxification in the hyperornithinaemia–hyperammonaemia–homocitrullinuria (HHH) syndrome. In contrast, ophthalmic researchers have reported retinotoxic...

The aim of this study was to determine the efficacy of a colorimetric pupil light reflex (PLR) device (Melan-100(®), U.S.A.) in dogs with sudden acquired retinal degeneration syndrome (SARDS; 16 cases), progressive retinal atrophy (PRA; 10 cases) and optic pathway disease (6 cases). The colorimetric device detected PLR abnormality in 32, 16 and 9 eyes with SARDS, PRA and optic pathway disease, ...

Inherited retinal degenerations, such as retinitis pigmentosa (RP) and age-related macular degeneration (AMD), represent leading causes of incurable blindness in humans. This is also true in dogs, where the term progressive retinal atrophy (PRA) is used to describe inherited photoreceptor degeneration resulting in progressive vision loss. Because of the similarities in ocular anatomy, including...

The axons that make up the optic nerve originate from the retinal ganglion cells and extend from there to the lateral geniculate body. If cellular integrity is interrupted by disease anywhere along the course of an axon, degeneration occurs in both directions from the point of insult. Thus, axon frag­ ments between the site of injury and the lat­ eral geniculate body are separated from their nu...

PURPOSE To determine the microperimetric retinal sensitivity in areas with nascent geographic atrophy (nGA) compared with other pathological features in eyes with intermediate AMD. METHODS Participants with bilateral intermediate AMD underwent microperimetry examinations and high-resolution spectral-domain optical coherence tomography (SD-OCT) scans in a prospective study. Twenty-two particip...

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) was first described in the French-Canadian founder population of Quebec in 1978, but genetically confirmed patients have now been reported in individuals from Europe and Japan. Ataxia, dysarthria, spasticity with extensor plantar reflexes, distal muscle wasting, sensorimotor neuropathy and horizontal gaze-evoked nystagmus consti...