Advanced search×

Left-sided Duane's syndrome and retinal coloboma associated with contralateral microphthalmia.

Strabismus 15(2):113-7 (2007) PMID 17564942

Case report of a 15-year-old girl presenting with a left-sided Duane's retraction syndrome (DURS) in combination with ipsilateral retinal coloboma and contralateral microphthalmia. Abduction limitation as well as narrowing of the palpebral fissure and globe retraction during attempted adduction (type I DURS) was demonstrated in the left eye. Additionally, a retinal coloboma was observed in the nasal inferior quadrant of the left eye. No other somatic or developmental abnormalities were observed and karyotypic analysis was normal. This is the first case of non-syndromic unilateral DURS associated with a contralateral major ocular malformation. This unusual clinical combination probably arose from the embryonic action of an eye-specific disruptor.

DOI: 10.1080/09273970701431418
Version: za2963e q8zae q8zba q8zc7 q8zdd q8ze8 q8zf1 q8zgb

Similar articles you may find interesting…

  1. Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3.

    J Med Genet 43(3):e11 (2006) PMID 16525029 PMCID PMC2563249

    HGPPS can result from compound heterozygous mutations. More comprehensive examinations of parents and siblings of HGPPS patients are required to determine if the incidence of scoliosis in individuals harbouring heterozygous ROBO3 mutations is greater than in the general population....
  2. Clinical features associated with an I126M α2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome

    J AAPOS 13(3):245-248 (2009) PMID 19541263

    We describe the clinical phenotype of a Mexican family segregating Duane syndrome as an autosomal-dominant trait linked to chromosome 2q31 (DURS2) and previously reported to harbor a heterozygous α2-chimaerin missense mutation. Methods A 5-generation Mexican family was analyzed. Ten affected subj...
  3. Toward an implantable functional electrical stimulation device to correct strabismus

    J AAPOS 13(3):0 (2009) PMID 19375369

    Results from the feline lateral rectus muscle showed that electrical stimulation is a feasible approach to evoke a contraction from a denervated lateral rectus muscle. The degree of denervation of the feline lateral rectus muscle was indeterminate. Varying the stimulation amplitude allowed greater e...