0000000000174316

AUTHOR

Irene Gottlob

showing 2 related works from this author

Electrophysiological findings of neuronal ceroid lipofuscinosis in heterozygotes.

1988

Nineteen obligate heterozygotes, 8 individuals at risk of being heterozygote, and 10 patients afflicted with four different forms of neuronal ceroid lipofuscinosis were examined electrophysiologically. The group of obligate heterozygotes was compared to age-matched control groups. Statistically significant differences were found between scotopic b-wave amplitudes, P-ERG amplitudes, and EOG light peaks of the obligate carriers of the juvenile type and the control subjects. The photopic L-ERGs and the latencies of the VEPs were mostly within the normal range. The findings represent the first evidence of functional ophthalmological changes in obligate carriers of neuronal ceroid lipofuscinosis…

AdultPathologymedicine.medical_specialtyHeterozygotegenetic structuresAdolescentPhysiologyBiologyCellular and Molecular NeuroscienceNeuronal Ceroid-LipofuscinosesRisk FactorsmedicineElectroretinographyHumansScotopic visionChildmedicine.diagnostic_testObligateHeterozygote advantageElectrooculographymedicine.diseaseSensory SystemsOphthalmologyElectrophysiologyElectrooculographyChild PreschoolEvoked Potentials VisualNeuronal ceroid lipofuscinosissense organsElectroretinographyPhotopic visionGraefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
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Eye Movement Involvement in Parry-Romberg Syndrome: A Clinicopathologic Case Report

2008

We report the case of a 38-year-old woman who developed a progressive bilateral disease in which the eye motility disorder-diplopia-is the outstanding feature over a period of 12 years. The muscle biopsy of the medial rectus muscle did not show any trace of striated muscle. To the best of our knowledge, this is the first pathological report in an affected extraocular muscle of a patient with Parry-Romberg syndrome (PRS). Previous rare reports of diplopia in PRS have been attributed to enophthalmos, progressive atrophy of the orbit, ocular motor nerve dysfunction, or mechanical restrictions.

AdultEye Movementsgenetic structuresExtraocular musclesOcular Motility DisordersOcular Motility DisordersFacial HemiatrophyDiplopiamedicineHumansMuscle biopsymedicine.diagnostic_testbusiness.industryEnophthalmosMedial rectus muscleEye movementParry–Romberg syndromeAnatomymedicine.diseaseFibrosiseye diseasesOphthalmologyOculomotor Musclemedicine.anatomical_structureOculomotor MusclesFemalesense organsmedicine.symptombusinessStrabismus
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