Bovine ceroid-lipofuscinosis: Pathology of blindness

Jolly, RD; Gibson, Alice; Healy, P. J.; Slack, P. M.; Birtles, M. J.

doi:10.1080/00480169.1992.35711

Cited by 13 publications

(5 citation statements)

References 21 publications

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“…Retinal changes in this young steer are similar to those described in the Devon breed, 6,8 with marked loss of the layer of rod and cones and associated outer nuclear layer and less extensive loss of neurons in the ganglion cell layer. The marked loss of retinal synaptophysin immunostaining, especially the loss of the outer plexiform layer, likely represents the loss of synapses associated with rod and cone cells because synaptophysin is a presynaptic protein in chemical synapses.…”

supporting

confidence: 72%

Neuronal Ceroid-Lipofuscinosis in a Holstein Steer

Hafner

Flynn²,

Harmon

et al. 2005

J VET Diagn Invest

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A young, partially blind Holstein steer was affected by mild cerebral atrophy. Formalin-fixed cerebral gray matter was diffusely yellow brown. Microscopically, there were eosinophilic, autofluorescent granules primarily in the cytoplasm of cerebral neurons. There was also extensive retinal atrophy with complete loss of the rod and cone layers. Ultrastructural examination of affected cerebral neurons revealed a mixture of granular osmiophilic and lamellar patterns in the cytoplasmic storage bodies. This suggests the existence of neuronal ceroid-lipofuscinosis in the Holstein breed.

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supporting

confidence: 72%

Neuronal Ceroid-Lipofuscinosis in a Holstein Steer

Hafner

Flynn²,

Harmon

et al. 2005

J VET Diagn Invest

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“…Ceroid lipofuscinosis has been reported in various breeds of dogs (Neville et al 1980;Appleby et al 1982;Nilsson et al 1983;Koppang 1988;Taylor and Farrow 1988;Brabauder 1989;Riis et al 1992), various breeds of sheep (Jolly and West 1976;Mayhew et al 1985, Armstrong andJolly 1986;Edwards er al. 1994), and cattle (Harper et al 1988;Jolly et al 1992). These conditions have been generally thought to be inherent diseases.…”

Section: Discussionmentioning

confidence: 99%

Ocular manifestations of equine motor neuron disease

Riis

Jackson

Rebhun

et al. 1999

Equine Veterinary Journal

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Summary The characteristics of the ocular manifestations of equine motor neuron disease (EMND) are described. Forty‐two horses with histories, clinical signs and necropsies compatible with EMND were the subjects of this study. Ophthalmoscopic lesions that varied in severity were found in 40 of 42 horses and appeared as a distinct pigmented reticulated pattern at the tapetal‐nontapetal junction or throughout the fundus, depending upon severity. The pattern colours ranged from yellow brown to black. Areas of hyperreflectivity formed mosaic patterns in the tapetal fundus. ERG B‐wave amplitudes were usually at least 50% reduced and many animals showed extinguished amplitudes. None of the horses had apparent visual impairment. Histopathologically, all 42 horses had retinal pigment epithelial (RPE) congestion with ceroid‐lipofuscin. Retinal degeneration was variable even within the eyes. Thin layer chromatography (TLC) analysis of the RPE and neural retina identified both green and orange emitting fluorescent compounds not found in normal horses. All unsupplemented horses had plasma vitamin E levels <1.0 μg/ml. The potential significance of this report is the pathognomonic role the ocular manifestations exhibit in helping to diagnose equine motor neuron disease. In memory of John Cummings, we dedicate this manuscript.

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“…10 Subunit c of mitochondrial adenosine triphosphate synthase (SCMAS) is the main storage material in the diseases caused by the mutations in CLN2, CLN3, CLN5, CLN6, CLN7, CLN8, and CLCN7, whereas the accumulation of saposins (A and D) is recognized in some subtypes of NCL (those affected by mutations in CLN1 and CLN10). 10 Clinical and pathological features of the disease have been reported in several animal species, such as dogs, 1,2,13,14,18,19,22,23,26,28 cats, 16,21 sheep, 5,12,24,25 cattle, 6,8,11 goats, 4 horses, 9,31 and nonhuman primates. 29 Even in the veterinary field, mutations of causative genes have been identified: CLN5, 5 CLN6, 24,25 and CL10 30 in sheep; CLN5 in cattle 8 ; and CLN2 (TPP1), 1 CLN5, 18 CLN8, 13 and CLN10 (CTSD) 2 in dogs.…”

mentioning

confidence: 99%

Clinical and Pathologic Features of Neuronal Ceroid-Lipofuscinosis in a Ferret (Mustela putorius furo)

et al. 2011

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Clinical and pathologic features of neuronal ceroid-lipofuscinosis in a 4-month-old ferret are reported. Clinical signs including neurological symptoms appeared at 3 months of age and progressed rapidly. By magnetic resonance imaging, severe cerebral atrophy was recognized. Histopathologically, there was severe neuronal loss and diffuse astrogliosis with macrophage accumulations; lesions were found predominantly in the cerebral cortex. Intracytoplasmic pigments were observed in surviving neurons and macrophages throughout the brain. The pigments were intensely positive for periodic acid-Schiff, Luxol fast blue, and Sudan black B and exhibited a green autofluorescence. Electron microscopic examination revealed the accumulation of electron-dense granular material within lysosomes of neurons and macrophages. Immunohistochemically, a large number of saposin-positive granules accumulated in the neuronal cells, astrocytes, and macrophages of the lesions, but significant immunoreactivity for subunit c of mitochondrial adenosine triphosphate synthase was not observed. Based on these findings, the animal was diagnosed as affected by neuronal ceroid-lipofuscinosis.

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Bovine ceroid-lipofuscinosis: Pathology of blindness

Cited by 13 publications

References 21 publications

Neuronal Ceroid-Lipofuscinosis in a Holstein Steer

Neuronal Ceroid-Lipofuscinosis in a Holstein Steer

Ocular manifestations of equine motor neuron disease

Clinical and Pathologic Features of Neuronal Ceroid-Lipofuscinosis in a Ferret (Mustela putorius furo)

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