Olivopontocerebellar Atrophy With Retinal Degeneration

Ei, Traboulsi; Ih, Maumenee; Wr, Green; Ml, Freimer; Moser, Hugo W.

doi:10.1001/archopht.1988.01060130871043

Cited by 37 publications

(10 citation statements)

References 25 publications

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“…So these findings suggest that the dysfunction in our patients is different from that in iCSNB. Pigmentary degeneration of the retina has been reported in association with SCD [7,8]. Impairment of the function of photoreceptors, evaluated with ERGs in SCDs, has been reported [9,10].…”

Section: Discussioncontrasting

confidence: 39%

Spinocerebellar degeneration with negative electroretinogram: dysfunction of the bipolar cells

et al. 2004

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We report the characteristics of three patients with spinocerebellar degeneration (SCD) with negative-type electroretinograms (ERGs). None of the patients showed retinal degeneration, but all had severe cerebellar ataxia, and brain MRIs showed cerebellar atrophy. Negative-type ERGs have been implicated in the selective functional impairment of the inner retinal layer, but few studies have reported dysfunction of the inner nuclear layer in SCD patients. Our subjects may be the first reported SCD cases with negative-type ERGs. Our results suggest that an etiologic relationship exists between cerebellar ataxia and negative-type ERGs. Further investigation of ERGs in patients with SCD could potentially lead to the identification of an increased number of SCD patients with negative-type ERGs and retinal pathogenesis.

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Section: Discussioncontrasting

confidence: 39%

Spinocerebellar degeneration with negative electroretinogram: dysfunction of the bipolar cells

et al. 2004

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“…These interpretations are based on previous histological-OCT comparisons in avian and mammalian retinas (Huang et al, , 2000. Postmortem histopathological studies of patients with ADCAII or OPCAIII have shown both outer and inner retinal abnormalities (Ryan et al, 1975;Traboulsi et al, 1988;Martin et al, 1994).…”

Section: Discussionsupporting

confidence: 38%

Spinocerebellar Ataxia Type 7 (SCA7) Shows a Cone–Rod Dystrophy Phenotype

Alemán

Cideciyan

Volpe

et al. 2002

Experimental Eye Research

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“…In the mouse, a pathological increase in cyclic nucleotide concentration has been observed in both cerebellar and photoreceptor cell dystrophies (Farber and Lolley, 1974;Liu et al, 1979;Spinka et al, 1980;Ghetti et al, 1981). Furthermore, in some human neurological syndromes such as olivopontocerebellar atrophy type 111, typical histopathological findings include retinal degeneration primarily involving the photoreceptor cell layer (Traboulsi et al, 1988;Dooley et al, 1992).…”

supporting

confidence: 40%

Distribution of Purkinje cell‐specific Zebrin‐II/aldolase C immunoreactivity in the mouse, rat, rabbit, and human retina

Caffé

Schantz

Szél

et al. 1994

J of Comparative Neurology

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The developmental, genetic, and biochemical similarities that have been observed between the cerebellum and retina form the basis for ongoing investigations into retinal expression of cerebellar-specific proteins. We have examined the mouse, rat, rabbit, and human retina for expression of a protein that is present in parasagittal Purkinje cell strips and that is recognized by the antibody Zebrin-II. This protein has recently been identified as a member of the aldolase C isoenzymes. Western blotting and immunocytochemistry have been used. The monoclonal antibody Zebrin-II recognized a prominent 36 kDa protein band on immunoblots of both the cerebellum and the retina of the examined species. Immunocytochemistry showed that, in the three nonhuman species, cells were stained in the ganglion cell layer (GCL). In addition, in the mouse and rabbit, cells in the inner nuclear layer (INL) were also labeled. Except for the visual streak, there were more immunopositive cells in the rabbit GCL and INL than in corresponding areas of the mouse retina. In the human, in contrast to the other species, the photoreceptor cell layer was strongly aldolase C immunoreactive. In all species except for the rat, the photoreceptor inner segments also displayed a weak labeling. The results show that this aldolase C isoenzyme is another protein that is selectively expressed by the cerebellum and retina. Furthermore, the retinal expression is species specific, and this pattern seems to show a good correlation with the oxygenation level of the individual compartments. The indication that this aldolase C isoenzyme has specific developmental functions in the retina provides additional clues for our understanding of cerebellar organization.

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Olivopontocerebellar Atrophy With Retinal Degeneration

Cited by 37 publications

References 25 publications

Spinocerebellar degeneration with negative electroretinogram: dysfunction of the bipolar cells

Spinocerebellar degeneration with negative electroretinogram: dysfunction of the bipolar cells

Spinocerebellar Ataxia Type 7 (SCA7) Shows a Cone–Rod Dystrophy Phenotype

Distribution of Purkinje cell‐specific Zebrin‐II/aldolase C immunoreactivity in the mouse, rat, rabbit, and human retina

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