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Year : 2007  |  Volume : 55  |  Issue : 2  |  Page : 139-141

Atypical association of Duane retraction syndrome and Bardet Biedl syndrome

Departments of Pediatric Ophthalmology and Strabismus, Aravind Eye Hospital, Madurai - 625 020, Tamil Nadu, India

Date of Submission03-Dec-2005
Date of Acceptance13-Jun-2006

Correspondence Address:
P Vijayalakshmi
Departments of Pediatric Ophthalmology and Strabismus, Aravind Eye Hospital, 1, Annanagar, Madurai - 625 020, Tamil Nadu
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0301-4738.30710

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Duane's retraction syndrome (DRS) includes changes in palpebral fissure width along with restriction of ocular motility. Bardet Biedl syndrome (BBS) includes presence of retinitis pigmentosa (RP) with obesity, mental retardation, polydactyly and renal abnormalities. We report a case of rare association of DRS with BBS in a seven-year-old child. The ocular motility examination revealed left DRS with esotropia. Fundus examination revealed findings characteristic of an atypical retinitis pigmentosa. The electro-retinogram waveforms were extinguished both for rods and cones. He was diagnosed as a case of BBS on the basis of the ophthalmological findings plus association with the systemic features of obesity, polydactyly, hypogonadism, mental retardation and renal abnormalities. This case gives further evidence of the fact that BBS may be associated with abnormalities of eye movements.

Keywords: Bardet Biedl syndrome, Duane′s retraction syndrome, retinitis pigmentosa

How to cite this article:
Jethani J, Parija S, Shetty S, Vijayalakshmi P. Atypical association of Duane retraction syndrome and Bardet Biedl syndrome. Indian J Ophthalmol 2007;55:139-41

How to cite this URL:
Jethani J, Parija S, Shetty S, Vijayalakshmi P. Atypical association of Duane retraction syndrome and Bardet Biedl syndrome. Indian J Ophthalmol [serial online] 2007 [cited 2020 Feb 28];55:139-41. Available from: http://www.ijo.in/text.asp?2007/55/2/139/30710

Duane's retraction syndrome (DRS) is characterized by globe retraction and palpebral fissure narrowing on adduction, with restriction of abduction or adduction or both.[1] The proposed mechanism for the impaired ocular motility is congenital miswiring of the lateral and medial rectus muscles.[1] Electromyographic studies show decreased or absent firing of the lateral rectus and medial rectus during attempted adduction causing globe retraction.[2] It may be associated with other ocular as well as systemic congenital anomalies such as sensorineural deafness, upper limbs defect, facioauriculo-vertebral anomalies, cardiac and genito-urinary anomalies.[1]

The cardinal features of Bardet-Biedl syndrome (BBS) are obesity, poly or syndactyly, mental retardation, hypogenitalism and retinitis pigmentosa (RP).[3] It may be associated with other ocular defects such as nystagmus, strabismus, keratoconus, cataract, ptosis, ophthalmoplegia and constricted visual fields.[3],[4] Herewith, we report a case of unilateral DRS Type I and high myopia in association with BBS.

  Case Report Top

A seven-year-old boy presented with a history of squint since birth and progressive night blindness. He was a product of full-term normal delivery, born out of a second degree consanguineous marriage with no family history of strabismus but with a family history of RP. He was one of twins; the other died at birth. He had multiple systemic anomalies including facial asymmetry, ventricular septal defect, polydactyly and hypospadios with mental retardation. The anterior segment examination was normal. The corrected visual acuity of right eye was 7/200 with -7.0 diopters sphere (DS) and left eye 20/80 with -7.0 DS. There was a compensatory face turn to the left [Figure - 1]a along with horizontal jerky nystagmus on all gazes. The ocular motility examination revealed a 30 prism diopters (PD) esotropia with complete inability to abduct the left eye [Figure - 1] a, b. Palpebral fissure narrowing was present on adduction consistent with DRS Type I (Huber's classification).[1]

Indirect ophthalmoscopy revealed myopic discs, attenuated vessels and pigment deposition in the mid-peripheral retina in clumps, characteristic of RP [Figure - 2] a, b. Electroretinogram (ERG) was performed using bipolar Burian-Allen contact lens electrode (LKC, Gaithersburg); Kurbisfeld stimulation was performed using a photostimulator set at intensity of -25 decibels (db), 0 db after dark-adapting the child for 20 min under general anesthesia. The child was tested both under photopic and scotopic conditions. The ERG waveforms (UTAS 3000, LKC Technologies, Gaithersburg) were extinguished both for rods and cones suggestive of RP [Figure - 3] a, b. Central visual fields were constricted to 20°.

  Discussion Top

Duane's retraction syndrome is associated approximately 10-20 times more frequently with other congenital systemic anomalies and is thought to be due to an insult during the 10th week of embryogenesis. It has been associated with congenital malformations of the skeletal, auricular, ocular and neural systems.[4]

Guirgis et al .[5] reported a case of DRS with esotropia accompanying cone-rod dystrophy in a patient with achondroplasia. Cone-rod dystrophy has been associated with a number of systemic disorders, including BBS.[5] McCullah and Cummings[6] reported a patient with unilateral DRS with pseudo RP. Pelit et al .[7] reported a case of DRS Type I with RP in a middle-aged woman with ERG showing nondetectable rod and cone responses. The female, however, did not have any features of BBS. The chromosomal study did not reveal any association and the authors postulated it to be a chance occurrence. Lavy et al .[8] reported that 64% of patients with BBS had abnormal eye movements.

BBS may be associated with pigmentary degeneration of the retina and other ocular defects including nystagmus, strabismus, keratoconus, cataract, constricted visual fields, ptosis and ophthalmoplegia.[3],[4] A high rate of consanguinity is found among the parents (25-40%).

In our case, the child was diagnosed as a case of BBS with progressive night blindness, visual field constriction noted to be progressive. ERG showed diminution of both photopic and scotopic responses. There is a definite family history of RP but not of strabismus. Pelit et al .[6] reported a similar case and found that this was a chance occurrence and the chromosomal analysis was normal. We did not do a detailed chromosomal analysis since it was not possible in our setup. This rare case of DRS in a patient of BBS gives evidence of the variability of the features of BBS and also demonstrates that this condition can be associated with abnormalities of eye movements.

  References Top

DeRespinis PA, Caputo AR, Wagner RS, Guo S. Duanes' retraction syndrome. Surv Ophthalmol 1993;38:257-88.  Back to cited text no. 1
Chung M, Stout JT, Borchert MS. Clinical diversity of hereditary Duane's retraction syndrome. Ophthalmology 2000;107:500-3.  Back to cited text no. 2
Traboulsi EI. Cone-rod dystrophies. In : Traboulsi EI, editor. Genetic diseases of the eye. Oxford University Press: New York; 1999. p. 357-65.  Back to cited text no. 3
Jones KL, Smith DW. Recognizable pattern of human malformation. 5th ed. WB Saunders Co: Philadelphia; 1997. p. 590-1.  Back to cited text no. 4
Guirgis MF, Thorntonss, Tychser L, Leeder GT. Cone rod retinal dystrophy and Duane retraction syndrome in a patient with achondroplasia. J AAPOS 2002;6:400-1.  Back to cited text no. 5
McCullah D, Cumnings RW. Pseudoretinitis pigmentosa . Am J Optom Physiot Opt 1987;61:56-60.  Back to cited text no. 6
Pelit A, Aydogan N, Oto S, Haciyakupoglu G, Yilmaz Z, Akova YA. Duane's retraction Syndrome in association with retinitis pigmentosa. J AAPOS 2003;7:423-4.  Back to cited text no. 7
Lavy T, Harris CM, Shawkat F, Thompson D, Taylor D, Kriss A. Electrophysiological and eye movement abnormalities in children with the Bardet Biedl syndrome. J Pediatr Ophthalmol Strabismus 1995;32:364-7.  Back to cited text no. 8


  [Figure - 1], [Figure - 2], [Figure - 3]

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