Ophthalmologic Studies of Familial Dysautonomia

Goldberg, Morton F.

doi:10.1001/archopht.1968.00980050734011

Cited by 68 publications

(20 citation statements)

References 38 publications

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“…Although increased pupillary responses to specific diagnostic agents have been described in PAF [18], accurate quantification of these pupil responses has not been defined. The presence of supersensitive pupil responses to topically-applied autonomic agonists has previously been described in patients with acute autonomic neuropathy [19,20,21], and familial dysautonomia (the Riley-Day syndrome) [15,22,23], but without detailed quantification of pupil responses.…”

Section: Discussionmentioning

confidence: 99%

Ocular autonomic function in progressive autonomic failure

Clark

Ewing

1988

Doc Ophthalmol

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Ocular autonomic function was assessed in 4 patients with progressive autonomic failure (PAF) and age-matched control subjects, by measurement of the pupil cycle time, and determination of autonomic denervation hypersensitivity of the iris. Pupil cycle time was abnormal in all patients with PAF; sustained pupil cycling was absent in 5 of the 8 eyes tested of the PAF patients, compared with only 16 eyes from 70 control subjects. Pupil constriction in response to 2.5% methacholine, indicative of parasympathetic denervation hypersensitivity, was significantly increased in patients with PAF (p less than 0.001), whilst pupil dilation in response to 0.5% phenylephrine, indicative of sympathetic denervation hypersensitivity, was also significantly higher in the PAF patients (p less than 0.001). The results suggest that ocular autonomic function may provide a sensitive early indicator of generalised autonomic dysfunction.

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Section: Discussionmentioning

confidence: 99%

Ocular autonomic function in progressive autonomic failure

Clark

Ewing

1988

Doc Ophthalmol

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“…Swelling of the periorbital tissue, several rows of eyelashes, lateral ankyloblepharon, partial symblepharon, cataract, increase of the ocular pressure [Ginsberg et al, 1972], anisometropia, anisocoria, ptosis, which dis appears after instillation of 10% phenyl ephrine [Goldberg et al, 1968], have been reported.…”

Section: Ocular Symptomsmentioning

confidence: 98%

“…Two other symptoms are observed in more than two thirds of the cases [Goldberg et al, 1968]. They are: (1) Exotropia, which might be explained by deficient muscular inner vation.…”

Section: Ocular Symptomsmentioning

confidence: 99%

“…(3) Dental caries with dentition disorders and loss of teeth [Reitman, 1969], (4) Phagiocephaly or spina ventosa [Rotem and Charuzi, 1966], (5) Charcot's joints (partic ularly of the knees), resulting from repeated traumatisms [Brunt, 1967;Goldberg et al, 1968]. (6) Deglutition disorders may give rise to recurrent, sometimes fatal, broncho pneumonia.…”

Section: Miscellaneous Symptomsmentioning

confidence: 99%

“…It should be noted that the heterozygotes for the pathological gene sometimes mani fest a corneal hypoaesthesia, a diminution of the lacrimal secretion, an exodeviation or a myopia [Goldberg et al, 1968].…”

Section: Hereditymentioning

confidence: 99%

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