Clinical features of 201 cases with Duane's retraction syndrome. (57/58)

OBJECTIVE: To summarize the clinical features of 201 cases with Duane's retraction syndrome (DRS) and discuss its differential diagnosis. METHODS: We retrospectively summarized the 201 cases from 1979 to 1996. The clinical features including chief complaints, sexual distribution, age at first visit, laterality, type of presentation, ocular deviation in the primary position, refractive errors, amblyopia, globe retraction, change of the palpebral fissure, upshoot and downshoot in adduction, binocular single vision, and its associated ocular and non-ocular anomalies were analysed. RESULTS: There were 99 males and 102 females with a female-to-male ratio 1:1. The 65.88% of DRS cases had left eye involvement with two-to-one predilection for the left eye. The most common form of the syndrome was type I (184 patients, 91.54%). Exotropia was the most common deviation in the primary gaze (72 patients, 35.8%). Among 118 patients, most had abduction deficits, globe retraction in adduction, and faceturn as to maintaining single binocular vision. Crocodial tears (26 patients, 11.93%) was the most frequently encounted ocular abnormalities. CONCLUSIONS: Diagnosis of DRS in a typical case is not difficult, however, children with bilateral abduction deficits which may mimic DRS must be differentiated from the following four motility disorders, namely, abducens nerve palsy, Moebius syndrome, congenital oculomotor apraxia, and congenital or infantile esotropia.  (+info)

Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene. (58/58)

Duane syndrome (MIM126800) is an autosomal dominant disease responsible for 1% of all strabismus cases and has been related to a 8q12-13 contiguous gene syndrome. We report on an insertion of chromosome region 8q13-q21.2 on to band 6q25 in a patient presenting with Duane syndrome, mental retardation, and other dysmorphisms. FISH analysis using chromosome 8 radiation hybrid LIA2L indicated a concurrent deletion within the 8q rearranged region. These results were corroborated by STR-PCR analysis and FISH using YAC contig WC8.8 disclosed a deletion in 8q13. Comparison of the two known patients with Duane syndrome associated with deletion of 8q identifies a small region of overlap (SRO) of < 3 cM extending from D8S533 and D8S1767 in which a Duane syndrome locus is assigned. In addition YAC analysis in our patient showed that 8q rearrangement was rather complex since 8q deletion and insertion occurred in two distinct segments separated by a region which maintained its location on 8q.  (+info)