An Ultrastructural Study of The Retina in the Jansky-Bielschowsky Type of Neuronal Ceroid-Lipofuscinosis

Goebel, Hans H.; Zeman, Wolfgang; Damaske, E

doi:10.1016/0002-9394(77)90194-5

Cited by 44 publications

(16 citation statements)

References 10 publications

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“…The broad ultrastructural spectrum of NCL-specific bodies assembled in the canine retina relates NCL of English setters more to the juvenile form of human NCL than to the late infantile form where curvilinear profiles prevail [Goebel et al, 1977].…”

Section: Discussionmentioning

confidence: 99%

“…Eventually, in human NCL the subretinal space disappears, melanin emerges in the inner retinal layers, and gliosis and loss of topo graphical layering ensue in the infantile [Tarkkanen et al, 1977], the late infantile [Goebel et al, 1977], and the juvenile [Goebel et al, 1974] forms of human NCL.…”

Section: Discussionmentioning

confidence: 99%

“…The fundi are reminiscent of retinopathia pigmentosa. The electroretinogram shows amplitudal reduction of a-and b-waves [Goebel et al, 1977] and even extinction [Tarkkanen et ah, 1977], Canine neuronal ceroid-lipofuscinosis appears to be a model for the corresponding human syndrome [Koppang, 1973/74] despite certain clinical and morphologic differences. These concern ophthalmological findings, in particular the preservation of neuroepithelial cells in the canine disease, which prompted this ultrastructural investigation.…”

Section: Introductionmentioning

confidence: 99%

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Ultrastructure of the Retina in Canine Neuronal Ceroid Lipofuscinosis

Goebel¹,

Koppang²,

Zeman³

1979

Ophthalmic Res

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Electron microscopic studies on the retinae of 3 English setters, homozygous for the trait of canine neuronal ceroid lipofuscinosis (NCL), revealed preservation of photoreceptors early and late in the course of the disease. This is in sharp contrast to the severe neuroepithelial degeneration in human NCL, for which canine NCL is considered a spontaneous animal model. Ubiquitous accretion of NCL-specific lipopigments was present in all cell types of the retina, suggesting that NCL-specific lipopigment accumulation in photoreceptors per se is not lethal to these cells. The ultrastructure of lipopigments comprised curvilinear, fingerprint, lamellar, and complex patterns. Retinae of heterozygotes exhibited occasional regular lipofuscin granules.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Ultrastructure of the Retina in Canine Neuronal Ceroid Lipofuscinosis

Goebel¹,

Koppang²,

Zeman³

1979

Ophthalmic Res

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“…In classical juvenile NCL blindness is the initial symptom, and patients may first be seen by ophthalmologists or further investigated when attending a school for the blind. Visual impairment and blindness are of the retinal type, documented funduscopically and electroretinographically, confirmed by morphological studies which have revealed identical retinal degeneration, though different in degree, in infantile NCL , in late-infantile NCL [Goebel et al, 1977], and in classical juvenile NCL [Goebel et al, 1974], whereas retinal morphology has not yet been reported in early-juvenile or protracted juvenile NCL.Adult NCL differs from childhood forms of NCL by lack of visual impairment [Kufs, 1925;Berkovic et al, 1988] and of morphological retinal degeneration [Kufs, 1929;Martin et al, 1987;Berkovic et al, 1988]. This absence of retinal degeneration in NCL has actually prompted a report on 'A Case of Childhood Kufs' Disease' [BarthezCarpentier et al, 1991].…”

mentioning

confidence: 77%

Ultrastructure of the Retina in Adult Neuronal Ceroid Lipofuscinosis

Goebel

Schochet

Jaynes

et al. 1998

Cells Tissues Organs

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A 33-year-old woman died of biopsy-proven adult neuronal ceroid lipofuscinosis (NCL) or Kufs’ disease marked by fingerprint and curvilinear lipopigments in neural and nonneural cell types. She had never experienced visual impairment or shown electroretinographic abnormalities. At autopsy, her retina appeared intact without degeneration at the light-microscopic level, but nerve cells in different layers were loaded with lipopigments of the granular type. This appears to be the third ultrastructural study of the retina in a patient with adult NCL, a former one showing preservation of the retina, another retinal degeneration. Thus, only further molecular genetic data will clarify the nosology of adult NCL with and without retinal degeneration.

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“…Among the lysosomal diseases, the sphingolipidoses [François, 1975] and neuronal ceroid lipofuscinoses (NCL) [Goebel et al, 1974[Goebel et al, , 1977a have revealed ophthalmological. funduscopic, histopathological and ultrastructural pathological findings.…”

Section: Introductionmentioning

confidence: 99%