Ocular changes in dystrophia myotonica, paramyotonia and myotonia congenita

Junge, Jasmine

doi:10.1007/bf00184134

Cited by 28 publications

(5 citation statements)

References 76 publications

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“…Other ocular abnormalities have also been described in the DM literature. Low intraocular pressure was found in 29-100% of DM patients in previous studies [Junge, 1966;Raitta and Karli, 1982;Burian and Burns, 19671. Burian and Burns [19671 found that 82% of 25 DM patients had ptosis, while extraocular muscle abnormalities have been found in 40-83% on clinical [Walton and Nattrass, 1954;Burian and Burns, 19671 and electro-oculographic examinations [Ter-Bruggen et al, 19901.…”

Section: Discussionmentioning

confidence: 77%

Diagnostic value of ophthalmologic findings in myotonic dystrophy: Comparison with risks calculated by haplotype analysis of closely linked restriction fragment length polymorphisms

et al. 1992

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To determine diagnostic value of lens opacities in myotonic dystrophy (DM), we examined 98 at-risk members of 9 DM kindreds. Haplotype analysis of restriction fragment length polymorphisms (RFLPs) using ApoC2, CKMM, and pEFD4.2 supported the diagnosis of DM in 33 and excluded the diagnosis in 51 members. The sensitivities of bilateral iridescent lens opacities, posterior cortical lens opacities, orbicularis oculi weakness, low intraocular pressure, ptosis, and ocular myotonia were 46.7, 50.0, 60.6, 59.3, 51.5, and 3.0%, while their specificities were 100.0, 100.0, 98.0, 94.1, 96.1, and 100.0%, respectively. A peripheral pigmentary degeneration and central macular lesions of retina were not found on indirect fundoscopy. In 86.2% of DM patients, bilateral iridescent lens opacities, posterior cortical lens opacities, or both were present. Unilateral iridescent lens opacities occurred in only 3 of our DM patients, and 2 of non-DM relatives showed a few unilateral iridescent particles. Posterior cortical lens opacities in DM patients always affected both eyes in this series. We conclude that 1) bilateral iridescent lens opacities and posterior cortical lens opacities are highly specific for DM and useful for establishing clinical diagnosis of DM, 2) unilateral iridescent lens opacities are infrequent in DM and are seen in some non-DM members, and 3) ocular myotonia and clinical retinopathies are rare in DM.

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Section: Discussionmentioning

confidence: 77%

Diagnostic value of ophthalmologic findings in myotonic dystrophy: Comparison with risks calculated by haplotype analysis of closely linked restriction fragment length polymorphisms

et al. 1992

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“…Les premiers signes non équivoques consistent en des opacités colorées localisées principalement dans les régions sous-capsulaires postérieures (Vos 1938;Buschke 1943;Junge 1966). De nombreux auteurs soulignent que la dystrophie myotonique est un facteur de risque lors d'anesthésie.…”

Section: Atteinte Ophtalmiqueunclassified

Fecondite et mortalite infantile dans la dystrophie myotonique au Saguenay-Lac-St-Jean (Quebec Canada)

Dao¹

1992

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“…Die von uns erhobenen ophthalmologischen Befunde unterstreichen die Tatsache, dal3neben der Cataracta myotonicaretinale Funktionsstorungen (Junge 1966, Burian u. Burns 1966, Babel u. Tsacopouios 1970, Remky 1972 und Hypotonia bulbi (Tab. 2,Tab.…”

Section: Diskussionunclassified

Hypotonia bulbi und Gonadotropine bei myotonischer Dystrophie

Küchle¹,

Naumann²,

Völcker³

et al. 1988

Klin Monatsbl Augenheilkd

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Patients with myotonic dystrophy show ocular hypotony associated with primary hypogonadism and a secondary increase in the gonadotropins FSH and LH. By examining ten patients (nine men, one woman) with myotonic dystrophy and determining serum FSH and LH concentrations by radioimmunoassay, the authors tried to evaluate whether the decrease in intraocular pressure (IOP) seen in myotonic dystrophy might be related to increase levels of gonadotropins. The IOP of the patients with myotonic dystrophy (mean 10.6 mm Hg, SD 3.9 mm Hg) was significantly lower (P less than 0.0005) than that of a randomly selected control group. In all nine male patients serum FSH concentrations (mean 41.7 mIU/ml, SD 18.9 mIU/ml, normal range 0.9-9.8 mIU/ml) and serum LH concentrations (mean 18.6 mIU/ml. SD 6.8 mIU/ml, normal range 2.2-12.0 mIU/ml) were significantly higher (FSH: P less than 0.0005, LH: P less than 0.05) than those of a control group of four normal men. The female patient's FSH was elevated (11.5 mIU/ml, normal range 1.7-8.5 mIU/ml), her LH concentration was slightly elevated (15.5 mIU/ml, normal range 2.5-15.4 mIU/ml). A statistically significant correlation was found between elevated LH concentrations and decreased IOP (P less than 0.05) but no such correlation between FSH and IOP (P less than = 0.17). Endogenous circulating gonadotropins may play an important role in regulating aqueous inflow via cyclic AMP which is produced by ciliary epithelia and causes a decrease in the rate of aqueous humor production. This theory is corroborated by humor production. This theory is corroborated by the authors' data and by experimental studies by Sears and co-workers.

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Ocular changes in dystrophia myotonica, paramyotonia and myotonia congenita

Cited by 28 publications

References 76 publications

Diagnostic value of ophthalmologic findings in myotonic dystrophy: Comparison with risks calculated by haplotype analysis of closely linked restriction fragment length polymorphisms

Diagnostic value of ophthalmologic findings in myotonic dystrophy: Comparison with risks calculated by haplotype analysis of closely linked restriction fragment length polymorphisms

Fecondite et mortalite infantile dans la dystrophie myotonique au Saguenay-Lac-St-Jean (Quebec Canada)

Hypotonia bulbi und Gonadotropine bei myotonischer Dystrophie

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