Universität zu Köln

Schild, A. M., Fricke, J., Herkenrath, P., Bolz, H. and Neugebauer, A. (2010). Neuro-ophthalmological and Ophthalmological Findings in Joubert Syndrome. Klinische Monatsblat. Augenheilkunde, 227 (10). S. 786 - 792. STUTTGART: GEORG THIEME VERLAG KG. ISSN 0023-2165

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Abstract

Background: Joubert syndrome (JS) belongs to the ciliopathies and is a mostly autosomal recessively inherited disease (in the case of OFD1 mutations, JS is an X-linked trait). It is characterised by midbrain-hindbrain malformations with developmental delay, hypotonia and ataxia and a broad spectrum of other facultative findings. The aim of our study was to examine the ophthalmological and neuro-ophthalmological features of JS in our patients and to compare our findings to those of other studies. Methods: In a retrospective study we evaluated the ophthalmological and neuro-ophthalmological findings of 9 consecutive patients who met the diagnostic criteria of JS. Results: All patients had abnormalities of ocular motility, 4/9 used head thrusts to shift gaze (oculomotor apraxia OMA). In 6/8 patients, the optokinetic reflex (OKN) was absent. Furthermore, 8/9 children showed nystagmus, mostly see-saw nystagmus. Manifest strabismus was found in 8/9 while 3/9 had a retinopathy with either abnormal ERG and/or fundus appearance with or without visual impairment. Chorioretinal colobomata were present in 5/9 cases. Two patients showed a unilateral congenital ptosis, one a facial nerve paresis. Conclusions: The early neuro-ophthalmological findings in JS are not pathognonomic, but may lead to the diagnosis of JS. The syndrome should be suspected in patients with nystagmus, especially see-saw nystagmus, and abnormal OKN and/or OMA, and/or colobomata of the fundus, and further paediatric examinations should be initiated.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Schild, A. M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Fricke, J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Herkenrath, P. UNSPECIFIED UNSPECIFIED UNSPECIFIED Bolz, H. UNSPECIFIED UNSPECIFIED UNSPECIFIED Neugebauer, A. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-495948
DOI:	10.1055/s-0029-1245735
Journal or Publication Title:	Klinische Monatsblat. Augenheilkunde
Volume:	227
Number:	10
Page Range:	S. 786 - 792
Date:	2010
Publisher:	GEORG THIEME VERLAG KG
Place of Publication:	STUTTGART
ISSN:	0023-2165
Language:	German
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language CHORIORETINAL COLOBOMA; FOLLOW-UP; DISORDERS; FEATURES; CILIOPATHIES; DISEASE; CILIA; SIGNS Multiple languages Ophthalmology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/49594