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 patien ts with Duane syndrome, there has not been any documentation of anomalies i n close relatives. Patients with Duane syndrome have a greater than 50% inc idence of associated abnormalities that include deafness, other ocular anom alies, cranial nerve palsies, and skeletal abnormalities. This study was un dertaken to review the experience of our strabismus service with patients w ho have Duane retraction syndrome (DRS) and to delineate the associated ano malies in them and their first-degree relatives. Methods: A prospective stu dy of all patients with Duane syndrome who were seen at the strabismus serv ice at Moorfields Eye Hospital has been ongoing for the last 4 years. All p atients were assessed for the presence of ophthalmologic features of DRS an d then referred to the pediatric service for a physical and neurologic exam ination. First-degree relatives were also examined, and a family pedigree w as 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 uni lateral cases. The number of bilateral cases was 57.3%. Among the patients with DRS, 46% had first-degree relatives with associated abnormalities. Con clusions: The high incidence of associated anomalies in patients and first- degree relatives may suggest that a common genetic defect is responsible. T his has to be confirmed with molecular genetic studies, which were not perf ormed on these families because of a lack of available resources. However, our findings may indicate that the inheritance of Duane syndrome is much hi gher than the 10% previously reported, if any congenital abnormality is acc epted as DRS associated. Children with Duane syndrome may benefit from a fu ll medical assessment, in view of the frequency of other abnormalities, and so may their siblings. (J AAPOS 2000;4:106-9).