Congenital anomalies in patients with Duane retraction syndrome and their relatives.

PURPOSE: 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.

METHODS: 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.

RESULTS: 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.

CONCLUSIONS: 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.