D Oystreck | PubMed Health

PubMed2005

Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3.

OBJECTIVE: To review the neurologic, neuroradiologic, and electrophysiologic features of autosomal recessive horizontal gaze palsy and progressive scoliosis (HGPPS), a syndrome caused by mutation of the ROBO3 gene on chromosome 11 and associated with defective decussation of certain brainstem neuronal systems. METHODS: The authors examined 11 individuals with HGPPS from five genotyped families with HGPPS. Eight individuals had brain MRI, and six had electrophysiologic studies. RESULTS: Horizontal gaze palsy was fully penetrant, present at birth, and total or almost total in all affected individuals. Convergence, ocular alignment, congenital nystagmus, and vertical smooth pursuit defects were variable between individuals. All patients developed progressive scoliosis during early childhood. All appropriately studied patients had hypoplasia of the pons and cerebellar peduncles with both anterior and posterior midline clefts of the pons and medulla and electrophysiologic evidence of ipsilateral corticospinal and dorsal column-medial lemniscus tract innervation. Heterozygotes were unaffected. CONCLUSIONS: The major clinical characteristics of horizontal gaze palsy and progressive scoliosis were congenital horizontal gaze palsy and progressive scoliosis with some variability in both ocular motility and degree of scoliosis. The syndrome also includes a distinctive brainstem malformation and defective crossing of some brainstem neuronal pathways.

Adolescent↗

PubMed1999

Acute acquired comitant esotropia: a prospective study.

PURPOSE: To define the clinical characteristics of patients presenting with acute onset esotropia and features suggestive of possible underlying central nervous system pathology. To assess the prognosis for the return of binocular function and to consider the most appropriate management. METHODS: A prospective clinical study was carried out of all patients presenting to the department of paediatric ophthalmology at a university teaching hospital over the period January 1994 to April 1997. Each patient underwent a full ophthalmological examination (including assessment of sensory status). All patients were referred to a paediatric neurologist for examination and CT and/or MRI scan. RESULTS: Ten patients presented during the study period. Uncorrected hypermetropia and/or decompensated monofixation syndrome were the commonest aetiological factors. One patient was found to have a cerebellar tumour. In 5 patients prescription of the full hypermetropic correction alone was sufficient to restore binocularity. Five patients required bilateral medial rectus recession. Binocular function was restored in all cases--in 5 cases with bifoveal fusion. CONCLUSION: Decompensation of a pre-existing phoria or monofixation syndrome appears the commonest aetiology. Prescription of the full hypermetropic correction found at cycloplegic refraction forms an essential part of initial management. No single clinical sign can reliably indicate the rare patient harbouring a tumour. A high index of suspicion should be maintained and neuro-imaging considered in the absence of expected findings such as hypermetropia or fusion potential or in the presence of atypical features or neurological signs.

Acute Disease↗