A Family with a Chorioretinal Disease and Translucency of the Iris

Pinckers, A.; Wr, Loeff-Manschot

doi:10.1159/000307037

Ophthalmologica

1974

DOI: 10.1159/000307037

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A Family with a Chorioretinal Disease and Translucency of the Iris

A. Pinckers¹,

Loeff-Manschot Wr²

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1994

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The electrooculogram in heterozygote carriers of Usher syndrome, retinitis pigmentosa, neuronal ceroid lipofuscinosis, Senior syndrome and choroideremia

Pinckers¹,

Aarem

Brink³

1994

Ophthalmic Genetics

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Electrooculographic studies were performed in 77 carriers of tapetoretinal dystrophies: Usher syndrome (20), retinitis pigmentosa (32), neuronal ceroid lipofuscinosis (6), Senior syndrome (2), and choroideremia (17). The carriers were matched for sex and age with normal controls. In carriers of Usher syndrome the EOG Lp/Dt ratio was significantly lowered with 30% of the recordings having a subnormal value. There was a trend in carriers of retinitis pigmentosa to a subnormal EOG. In contrast to previous studies there was no decrease in the EOG Lp/Dt ratio in carriers of neuronal ceroid lipofuscinosis. Two carriers of Senior's syndrome had a normal EOG. Carriers of choroideremia did not differ significantly from normal controls; however, the Lp/Dt ratio decreased with increasing age. An abnormal EOG may be indicative of the carrier state in relatives of patients with tapetoretinal dystrophies.

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The electrooculogram in heterozygote carriers of Usher syndrome, retinitis pigmentosa, neuronal ceroid lipofuscinosis, Senior syndrome and choroideremia

Pinckers¹,

Aarem

Brink³

1994

Ophthalmic Genetics

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show abstract

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A Family with a Chorioretinal Disease and Translucency of the Iris

Cited by 1 publication

References 2 publications

The electrooculogram in heterozygote carriers of Usher syndrome, retinitis pigmentosa, neuronal ceroid lipofuscinosis, Senior syndrome and choroideremia

The electrooculogram in heterozygote carriers of Usher syndrome, retinitis pigmentosa, neuronal ceroid lipofuscinosis, Senior syndrome and choroideremia

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