Heredoataxia (Spinocerebellar Degeneration), ERG Alterations, Temporal Aspects

Stanescu-Segal, B.; Michiels, J

doi:10.1159/000308837

Cited by 5 publications

(3 citation statements)

References 9 publications

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“…10 However, the association between CMT and retinal dystrophies is not very common, and there are only a few cases reported. [11][12][13] Khoubesserian et al 11 evaluated a patient with CMT and fundus flavimaculatus retinal dystrophy. Ophthalmoscopy and fluorescein angiography showed central tapetoretinal degeneration with macular pigment changes and abnormal peripapillary vascular prominence.…”

Section: Discussionmentioning

confidence: 99%

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Mystery Case: Retinal Pigment Epithelial Dystrophy in a Patient With Polyneuropathy

Pimentel

Misawa

Conci

et al. 2021

RETINAL Cases &Amp; Brief Reports

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Section: Discussionmentioning

confidence: 99%

“…Photopic and scotopic electroretinographic recordings and electro-oculogram were normal. On the other hand, Stanescu-Segal and Michiels 12 studied 6 cases of heredotaxia, of which 3 were diagnosed with CMT. All of them had good VA, normal color vision and no perimetry defects.…”

Section: Discussionmentioning

confidence: 99%

Mystery Case: Retinal Pigment Epithelial Dystrophy in a Patient With Polyneuropathy

Pimentel

Misawa

Conci

et al. 2021

RETINAL Cases &Amp; Brief Reports

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“…Eine chronisch progressive Ophthalmoplegia externa wurde von Stephens (1958) und Spector (1978) angegeben, em Spontannystagmus von Poursines (1954). Massmnon-Verniory (1946), Ohrn-Degueldre (1978) und Stanescu (1979) beschrieben em gemeinsames Vorkommen einer Pigmentosa-ahnlichen Retinopathie und einer neuralen Muskelatrophie. Aufgrund der Ergebnisse von Tackmann und Radü (1980), die bei Patienten mit einer neuralen Muskelatrophie visuell evozierte Potentiale untersuchten, ist anzunehmen, daI em subkiinischer Sehnervenbefall haufiger vorliegt als bisher angenommen wurde.…”

Section: Ophthalmologische Befunde Bei Der Neuralen Muskelatrophieunclassified

Ophthalmologische Befunde bei der neuralen Muskelatrophie - Charcot-Marie-Tooth, HMSN Typ 1

Bürki¹

1981

Klin Monatsbl Augenheilkd

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The ocular findings are described in nine patients with Charcot-Marie-Tooth muscular atrophy, who were also classified as suffering from Type I hereditary motor and sensory neuropathy on the basis of genetic, clinical and electromyographic studies. Although only three patients admitted to visual symptoms and all nine patients had full vision in both eyes, combined visual evoked potential and contrast sensitivity testing revealed optic nerve involvement in one or both eyes of seven patients. Four patients showed impaired accommodation and tonic pupils, and electroretinography revealed pigmentosa-like tracings in two patients. The high percentage of subclinical optic nerve lesions has not been previously reported; however, the remaining findings are in agreement with those of previous authors.

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Cone Dysfunction in a Subgroup of Patients With Autosomal Dominant Cerebellar Ataxia

Hamilton

Chatrian²,

Mills³

et al. 1990

Arch Ophthalmol

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Heredoataxia (Spinocerebellar Degeneration), ERG Alterations, Temporal Aspects

Cited by 5 publications

References 9 publications

Mystery Case: Retinal Pigment Epithelial Dystrophy in a Patient With Polyneuropathy

Mystery Case: Retinal Pigment Epithelial Dystrophy in a Patient With Polyneuropathy

Ophthalmologische Befunde bei der neuralen Muskelatrophie - Charcot-Marie-Tooth, HMSN Typ 1

Cone Dysfunction in a Subgroup of Patients With Autosomal Dominant Cerebellar Ataxia

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