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Tuberöse-Sklerose-Komplex: Analyse des okulären Phänotyps und assoziierter Komplikationen


Zweipfenning, Florian; Toelle, Sandra P; Gerth-Kahlert, Christina (2019). Tuberöse-Sklerose-Komplex: Analyse des okulären Phänotyps und assoziierter Komplikationen. Klinische Monatsblätter für Augenheilkunde, 236(04):462-468.

Abstract

BACKGROUND Evaluation and comparison of the ocular phenotype in patients diagnosed with tuberous sclerosis complex (TSC). Analysis of ocular complications during follow-up.
PATIENTS AND METHODS A retrospective chart review was performed of patients with TSC who had received an ocular examination at the eye clinic of the University Hospital Zurich. Data were analysed on visual acuity (VA) assessment, refraction, anterior and posterior eye examination including the distinction of different types of hamartomas and, when available, visual fields. The study was approved by the Cantonal Ethics Committee of Zurich.
RESULTS A total of 30 patients who were diagnosed with TSC (19 female, 11 male) were included in the analysis. The age at first examination varied from 7 months to 44 years (mean 13.3 years, standard deviation 11.31). 17/30 patients received a follow-up examination between 4 months and 19 years (mean 4.3 years, standard deviation 5.24). Data of VA were available in 26/30 patients, of whom 22 had normal vision in both eyes. The causes of reduced VA in the 4 patients were: complications of a subependymal giant cell astrocytoma followed by a bilateral optic nerve atrophy; vigabatrin-associated optic atrophy; anterior segment dysgenesis; unilateral amblyopia. Adequate VA testing was not possible in 4 patients because of intellectual disabilities. Retinal hamartomas were described in 15/30 patients: 8 unilateral, 7 bilateral. The flat hamartoma type was described in 10/15 patients, the multinodular type in 6/15 patients.
CONCLUSIONS The ocular phenotype in our patient cohort shows similar TSC involvement to that described in the literature. Patients diagnosed with TSC require regular ophthalmic examinations to diagnose secondary ocular complications, such as papilloedema, severe vision loss or visual field constriction.

Abstract

BACKGROUND Evaluation and comparison of the ocular phenotype in patients diagnosed with tuberous sclerosis complex (TSC). Analysis of ocular complications during follow-up.
PATIENTS AND METHODS A retrospective chart review was performed of patients with TSC who had received an ocular examination at the eye clinic of the University Hospital Zurich. Data were analysed on visual acuity (VA) assessment, refraction, anterior and posterior eye examination including the distinction of different types of hamartomas and, when available, visual fields. The study was approved by the Cantonal Ethics Committee of Zurich.
RESULTS A total of 30 patients who were diagnosed with TSC (19 female, 11 male) were included in the analysis. The age at first examination varied from 7 months to 44 years (mean 13.3 years, standard deviation 11.31). 17/30 patients received a follow-up examination between 4 months and 19 years (mean 4.3 years, standard deviation 5.24). Data of VA were available in 26/30 patients, of whom 22 had normal vision in both eyes. The causes of reduced VA in the 4 patients were: complications of a subependymal giant cell astrocytoma followed by a bilateral optic nerve atrophy; vigabatrin-associated optic atrophy; anterior segment dysgenesis; unilateral amblyopia. Adequate VA testing was not possible in 4 patients because of intellectual disabilities. Retinal hamartomas were described in 15/30 patients: 8 unilateral, 7 bilateral. The flat hamartoma type was described in 10/15 patients, the multinodular type in 6/15 patients.
CONCLUSIONS The ocular phenotype in our patient cohort shows similar TSC involvement to that described in the literature. Patients diagnosed with TSC require regular ophthalmic examinations to diagnose secondary ocular complications, such as papilloedema, severe vision loss or visual field constriction.

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Additional indexing

Other titles:Ocular Phenotype and Complications in Patients with Tuberous Sclerosis Complex (TSC)
Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Ophthalmology Clinic
04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Scopus Subject Areas:Health Sciences > Ophthalmology
Language:German
Date:1 April 2019
Deposited On:21 Mar 2019 14:20
Last Modified:29 Jul 2020 10:29
Publisher:Georg Thieme Verlag
ISSN:0023-2165
OA Status:Closed
Publisher DOI:https://doi.org/10.1055/a-0804-1816
PubMed ID:30763959

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