Auditory Function in Duane's Retraction Syndrome
ABSTRACT We obtained audiograms and auditory brainstem responses from 44 patients with Duane's retraction syndrome to assess the incidence and nature of hearing deficit. Of 44 patients, seven (15.9%) had evidence of hearing impairment. Three (6.8%) subjects had a temporary conductive hearing loss because of middle ear fluid, and another patient had hearing loss from Crouzon's disease. The remaining three (6.8%) patients demonstrated sensorineural hearing deficit. This hearing impairment was attributed to a cochlear lesion and not to a pontine lesion. We believe that the frequency of sensorineural hearing loss in these patients warrants hearing screening programs similar to those used for infants in neonatal intensive care units.
Article: Duane's syndrome[Show abstract] [Hide abstract]
ABSTRACT: Duane's syndrome is an unusual congenital form of strabismus where there is paradoxical anomalous lateral rectus innervation of the affected eye due to misdirection of axons destined for the medial rectus. Three types of Duane's syndrome are recognized. Most cases of Duane's syndrome are sporadic but up to 10% are familial, usually with autosomal dominant inheritance. Several autosomal dominant syndromes with dysmorphic features are associated with Duane's syndrome. Chromosomal loci for genes contributing to Duane's syndrome have been suggested at 4q, 8q and 22q. Duane's syndrome is heterogeneous at multiple levels with variations in its ocular manifestations, accompanying systemic manifestations and in the chromosomal loci with which it may be associated. The definition clinically and genetically of the various subgroups of Duane's syndrome will provide a valuable insight into brainstem axonal guidance to the extraocular muscles during human development.European Journal of Neurology 04/2000; 7(2):145-9. DOI:10.1046/j.1468-1331.2000.00029.x · 3.85 Impact Factor
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ABSTRACT: Although the high incidence of skeletal, neural, and other ocular problems has been identified in previous reports of large cohorts of patients with Duane syndrome, there has not been any documentation of anomalies in close relatives. Patients with Duane syndrome have a greater than 50% incidence of associated abnormalities that include deafness, other ocular anomalies, cranial nerve palsies, and skeletal abnormalities. This study was undertaken to review the experience of our strabismus service with patients who have Duane retraction syndrome (DRS) and to delineate the associated anomalies in them and their first-degree relatives. A prospective study of all patients with Duane syndrome who were seen at the strabismus service at Moorfields Eye Hospital has been ongoing for the last 4 years. All patients were assessed for the presence of ophthalmologic features of DRS and then referred to the pediatric service for a physical and neurologic examination. First-degree relatives were also examined, and a family pedigree was generated. We have evaluated 68 patients with DRS, of which 60.2% were female patients. The left eye was involved at a ratio of 4:1 in unilateral cases. The number of bilateral cases was 57.3%. Among the patients with DRS, 46% had first-degree relatives with associated abnormalities. The high incidence of associated anomalies in patients and first-degree relatives may suggest that a common genetic defect is responsible. This has to be confirmed with molecular genetic studies, which were not performed on these families because of a lack of available resources. However, our findings may indicate that the inheritance of Duane syndrome is much higher than the 10% previously reported, if any congenital abnormality is accepted as DRS associated. Children with Duane syndrome may benefit from a full medical assessment, in view of the frequency of other abnormalities, and so may their siblings.Journal of American Association for Pediatric Ophthalmology and Strabismus 05/2000; 4(2):106-9. DOI:10.1067/mpa.2000.103439 · 1.14 Impact Factor
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ABSTRACT: The clinical and molecular genetic classification of syndromes with congenital limitation of eye movements and evidence of cranial nerve dysgenesis continues to evolve. This monograph details clinical and molecular genetic data on a number of families and isolated patients with congenital fibrosis of the extraocular muscles (CFEOM) and related disorders, and presents an overview of the mechanisms of abnormal patterns of motor and sensory cranial nerve development in these rare syndromes. Clinical examination of one patient with CFEOM1, one family with clinical features of CFEOM2, one family with recessive CFEOM3, one family with horizontal gaze palsy and progressive scoliosis (HGPPS), and four patients with various combinations of congenital cranial nerve abnormalities. Genotyping of families with CFEOM and HGPPS for polymorphic markers in the regions of the three known CFEOM loci and in the HGPPS region, and mutation analysis of the ARIX and KIF21A genes in patients with CFEOM were performed according to standard published protocols. The patient with CFEOM1 had the second most common mutation in KIF21A, a 2861 G>A mutation that resulted in an R954Q substitution. The family with CFEOM2 phenotype did not map to the CFEOM2 locus. The family with recessive CFEOM3 did not map to any of the known loci. The HGPPS family mapped to 11q23-q25. One patient had optic nerve hypoplasia and fifth nerve dysfunction. Two patients had the rare combination of Möbius syndrome and CFEOM. One patient had Möbius syndrome and fifth nerve dysfunction. There is genetic heterogeneity in CFEOM2 and CFEOM3. Abnormalities in sensory nerves can also accompany abnormalities of motor nerves, further substantiating the effect of individual mutations on developing motor as well as sensory cranial nerve nuclei.Transactions of the American Ophthalmological Society 02/2004; 102:373-89.