[Neuro-ophthalmological and ophthalmological findings in Joubert syndrome].
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.
Augenklinik, Universitätskliniken Köln. andrea.schild@uk-koeln.de
A M
AM
Schild
J
J
Fricke
P
P
Herkenrath
H
H
Bolz
A
A
Neugebauer
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D000293:Adolescent; D000550:Amblyopia / Q000175:diagnosis / Q000235:genetics; D000951:Antigens, Neoplasm / Q000235:genetics; D001763:Blepharoptosis / Q000175:diagnosis / Q000235:genetics; D001933:Brain Stem / Q000002:abnormalities / Q000473:pathology; D018797:Cell Cycle Proteins; D002526:Cerebellar Diseases / Q000145:classification / Q000175:diagnosis / Q000235:genetics; D002531:Cerebellum / Q000002:abnormalities / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003103:Coloboma / Q000145:classification / Q000175:diagnosis / Q000235:genetics; D003241:Consanguinity; D003598:Cytoskeletal Proteins; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005158:Facial Paralysis / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D009363:Neoplasm Proteins / Q000235:genetics; D017120:Nystagmus, Optokinetic / Q000235:genetics; D015835:Ocular Motility Disorders / Q000175:diagnosis / Q000235:genetics; D007690:Polycystic Kidney Diseases / Q000145:classification / Q000175:diagnosis / Q000235:genetics; D012029:Refraction, Ocular; D012189:Retrospective Studies; D013285:Strabismus / Q000175:diagnosis / Q000235:genetics; D014792:Visual Acuity; D055815:Young Adult
D048868:Adaptor Proteins, Signal Transducing; D000951:Antigens, Neoplasm; D018797:Cell Cycle Proteins; C493903:Cep290 protein, human; D003598:Cytoskeletal Proteins; D008565:Membrane Proteins; C108725:NPHP1 protein, human; D009363:Neoplasm Proteins