Retinal abnormalities in ophthalmoplegic lipidosis.

Taylor, David; Lake, B. D.; Marshall, John; Garner, A

doi:10.1136/bjo.65.7.484

Cited by 5 publications

(2 citation statements)

References 8 publications

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“…Our findings indicate that this disturbance is confined to the neuroretina and, based on the morphological observations, probably to its ganglion cells, thus confirming a previous statement by Gregory et al (1970). It is worthy of note in this context, that in certain inherited ocular lipidoses, which cause severe impairment of vision, only the ganglion cells are loaded with lamellated bodies, whereas the other retinal cell types, including the photoreceptors, appear normal (Harcourt & Dobbs 1968;Taylor et al 1981). Impairment of ganglion cell function due to phospholipidosis may thus be of significance also in chloroquine-induced retinopathy.…”

Section: Discussionsupporting

confidence: 90%

Effects of long‐term chloroquine exposure on the phospholipid metabolism in retina and pigment epithelium of the mouse

Hallberg

Naeser

Andersson

1990

Acta Ophthalmologica

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The influence of 6 month's treatment of normal mice with chloroquine on neuroretina and retinal pigment epithelium has been investigated biochemically and morphologically. All classes of neuroretinal phospholipids, except lysophosphatidylcholine, showed increased 14C-glucose incorporation after chloroquine treatment. No metabolic changes were observed in the pigment epithelium after the chloroquine treatment. Morphological signs of phospholipidosis were only evident in the ganglion cells of the neuroretina. It is concluded that long-term treatment with chloroquine does not affect pigment epithelium phospholipid metabolism but leads to morphological and biochemical signs of phospholipidosis in the neuroretina.

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Section: Discussionsupporting

confidence: 90%

Effects of long‐term chloroquine exposure on the phospholipid metabolism in retina and pigment epithelium of the mouse

Hallberg

Naeser

Andersson

1990

Acta Ophthalmologica

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“…5 In Niemann-Pick disease, the ring is more diffuse and may have less distinct margins; it may even be patchy. 6 The faint, gray ring of Farber's lipogranulomatosis and of metachromatic leukodystrophy may render the cherry-red spot more difficult to visualize. 7,8 …”

Section: T Able 4 D Ifferential D Iagnosis Of V Isual -S Ystem a Bnomentioning

confidence: 99%

Case 27-2002

Rust¹,

Karluk²

2002

N Engl J Med

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A 5 1 ⁄ 2 -year-old boy was admitted for video electroencephalographic monitoring to investigate his seizures.The boy had been born to a 21-year-old woman by spontaneous vaginal delivery after an uncomplicated, full-term, second pregnancy. He sat up at nine months of age and walked at one year. At 18 to 24 months, his vocabulary was noted to be limited, his speech difficult to understand, and his intellect inferior to that of his 7-year-old brother at those ages. His only illnesses were repeated bouts of tonsillitis, which led to a tonsillectomy at the age of four years. Between the ages of two and five years, he fell with increasing frequency. At four years of age, he was able to use the toilet on his own and to play soccer. During the two years before admission, his cognitive and motor functions declined.Eight months before admission, he had an episode in which his arms stiffened and extended and he fell backward; he recovered after a few seconds. Such episodes began to occur three or four times daily during waking hours. Occasionally, he was incontinent of urine or stool during the episodes or had a general loss of muscle tone. During subsequent months, he chewed and swallowed increasingly slowly, required soft food, and lost 5 kg in weight. He interacted progressively less with his mother. Eventually, the attacks occurred 5 to 10 times daily; he became fearful of falling backward, and instead of walking, he crawled.A magnetic resonance imaging (MRI) examination of the brain, performed elsewhere on an uncertain date, revealed diffuse cerebral and cerebellar atrophy and a poorly defined band of increased signal intensity in the periventricular white matter on T 1 -weighted images; the lateral ventricle and the cisterna magna were slightly enlarged, but the cerebellum appeared intact. The boy's IQ was 50.Six months before admission, treatment with valproate sodium-valproic acid reduced the frequency of the episodes, but the patient's family was concerned about the possible toxic effects of the medication on his liver. Carbamazepine was substituted, but his condition did not improve, and he became somnolent. Treatment with valproate sodium-valproic acid was resumed, but his parents reduced the dose from 800 mg to 200 mg daily. He was referred to this hospital.The family resided in a Middle Eastern country. His parents were first cousins. There was no family history of neurologic disease.General physical examination revealed no abnormalities. On neurologic examination, the boy was alert; he reached for toys more often with his right hand than with his left. He was able to follow simple, one-step commands. His speech was barely intelligible. Ophthalmologic examination revealed moderate limitation of the elevation of the eyelids; probable concentric reduction of the visual fields, with reduced visual acuity; retinal pallor; and bilateral, cherry-red spots. The optic nerves appeared normal. He had slow saccades and difficulty initiating saccades. Other cranial-nerve functions appeared to be intact. Muscle strength wa...

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The cherry‐red spot in Tay‐Sachs and other storage diseases

Kivlin

Sanborn²,

Myers

1985

Annals of Neurology

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The disappearance of the cherry-red spot in an otherwise typical patient with Tay-Sachs disease is described and illustrated. This clinical observation has rarely been made, but it is consistent with the pathological finding of loss of retinal ganglion cells. Disappearance of the cherry-red spot has also been observed in GM1 generalized gangliosidosis, the sialidoses known as the cherry-red spot-myoclonus syndrome and the Goldberg syndrome, and Niemann-Pick, type C disease. Thus the absence of a cherry-red spot in the neurologically impaired child or adult does not exclude these diagnoses.

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Retinal abnormalities in ophthalmoplegic lipidosis.

Abstract: SUMMARY Of 2 sibs with ophthalmoplegic lipidosis the younger had a perifoveal opacification of the retina. The older child's retina was transparent but atrophic. Ultrastructural studies showed lamellated bodies in the retinal ganglion cells and electron-dense inclusions in Muller's fibres.

Cited by 5 publications

References 8 publications

Effects of long‐term chloroquine exposure on the phospholipid metabolism in retina and pigment epithelium of the mouse

Effects of long‐term chloroquine exposure on the phospholipid metabolism in retina and pigment epithelium of the mouse

Case 27-2002

The cherry‐red spot in Tay‐Sachs and other storage diseases

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