Saudi Journal of Ophthalmology (2013) 27, 121–123
Case Report
Monocular elevation deficiency with associated dextrocardia and situs inversus Saemah Nuzhat Zafar, FRCS ⇑; Aasma Nudrat Zafar, FCPS; Inayat Hussain, MCPS
Abstract A patient having monocular elevation deficiency with associated dextrocardia and situs inversus is reported. Review of the literature regarding ocular features described in association with dextrocardia is also presented. Keywords: Dextrocardia, Monocular elevation deficiency, Ptosis Ó 2013 Saudi Ophthalmological Society, King Saud University. Production and hosting by Elsevier B.V. All rights reserved. http://dx.doi.org/10.1016/j.sjopt.2013.03.001
Introduction Ocular abnormalities associated with dextrocardia have been described in the literature. There is little published data about these ocular findings. Monocular elevation deficiency with associated dextrocardia and situs inversus has not been reported earlier, according to our literature search using the search words dextrocardia, ocular associations, squint, monocular elevation deficiency and double elevator palsy.
Case Report A 13-year-old boy presented with right sided upper lid droop and movement of the lid while chewing. His parents had noticed this since early infancy. He did not have any family history of squint. His general physical examination was within normal limits. There was no history of ocular surgery. On examination he had 6/12 vision in the right eye (OD) with 0.75 DC at 180° and 6/6 vision in the left eye (OS) without any significant refractive error. He had moderate ptosis with jaw winking phenomenon on the right side. Orthoptic assessment showed elevation deficiency of the right eye in abduction and adduction alike. Right hypotropia measured 18 prism diopters (PD). There was right exotropia of 14PD.
Extraocular movements in the left eye were normal. His anterior segment and fundus examination were within normal limits in both eyes (OU). He was counselled about possibility of more than one surgery for correction of his squint and ptosis. The patient had normal growth and development. Chest X-ray posteroanterior view showed cardiac apex on the right (Fig. 1). ECG showed negative QRS vector in lead I and aVL and positive in aVR. No specific T inversion in chest lead was seen. Abdominal ultrasound showed situs inversus. His complete blood picture was within normal limits. Forced duction test was negative for the right inferior rectus .There was no superior oblique muscle laxity in the fellow eye. Modified Knapp surgery for the correction of hypotropia and exotropia was carried out. Post operatively, the primary position hypotropia was corrected to within 4 PD. Post operative elevation deficiency was appreciable in the right eye (Fig. 2). Ptosis correction was carried out 3 weeks later with good cosmetic results and barely detectable jaw winking phenomenon. In the present case the presence of dextrocardia with situs inversus, was an incidental finding during routine tests for general anaesthesia before surgical correction of MED with ptosis and jaw winking phenomenon in a child with normal phenotype. No further tests or imaging studies were advised.
Received 11 June 2012; received in revised form 27 December 2012; accepted 1 March 2013; available online 14 March 2013. Al-Shifa Trust Eye Hospital, Jhelum Road, Rawalpindi, 46000, Pakistan ⇑ Corresponding author. Tel.: +92 51 5487820. e-mail address: [email protected] (S.N. Zafar). Peer review under responsibility of Saudi Ophthalmological Society, King Saud University
Production and hosting by Elsevier
Access this article online: www.saudiophthaljournal.com www.sciencedirect.com
122
S.N. Zafar et al. Table 1. Reported ocular findings with dextrocardia. Ocular finding
Cardiac anomaly
Poland-Möbius syndrome Möbius syndrome Clinical anophthalmia Complex microphthalmia Corneal anaesthesia Retinitis pigmentosa Peters’ anomaly with colobomatous microphthalmos Monocular elevation deficiency
Dexrocardia1 Dexrocardia2 Dextrocardia3 Dextrocardia5 Dextrocardia, situs inversus4 Dextrocardia, situs inversus4 Dextrocardia6 Dextrocardia, situs inversus (present report)
Discussion
Figure 1. Xray showing dextrocardia.
Poland-Möbius syndrome has been reported with associated dextrocardia in three cases worldwide.1 In Möbius syndrome there is under development of the 6th and 7th cranial nerves. This leads to variable facial paralysis and the ocular findings of limited abduction beyond midpoint. Limited abduction may be a result of gaze palsy or tight medial recti. Association of Möbius syndrome with Poland syndrome and dextrocardia is a rare congenital anomaly.1 Dextrocardia has been reported as one of the systemic associations of Möbius syndrome, by Laby.2 Clinical anophthalmia, unusual facies, skeletal abnormalities and dextrocardia have been described in a patient.3 Retinitis pigmentosa with dextrocardia and situs inversus totalis is reported in the literature.4 Similarly ocular findings of Alstrom syndrome, dextrocardia and situs inversus totalis have been described.4 A patient with corneal anaesthesia, dextrocardia, situs inversus and atrial septal defect has been reported as well.4 Patient with dextrocardia and dysmorphic facies has been described in association with syndromes with complex microphthalmia as a phenotype.5 Kresca described concomitant occurrence of Peters’ anomaly with colobomatous microphthalmos and dextrocardia.6 (Table 1). Marfan’s syndrome associated with situs inversus and dextrocardia has been reported in the literature.7 Bilateral situs inversus of optic disc was seen in a family with familial dextrocardia.8 The present case adds monocular elevation deficiency to the reports of ocular associations of dextrocardia.
Conflict of interest The authors declare no conflict of interest in the presented case report.
References
Figure 2. Monocular elevation deficiency while looking up in both adduction and abduction.
1. Jung J, Kim HG, Ahn H, Cho SJ, Park EA. The first Korean case of Poland-Möbius syndrome associated with dextrocardia. Korean J Pediatr 2009;52:1388–91. 2. Laby DM. Mobius syndrome. In: Rosenbaum AL, Santiago AP, editors. Clinical Strabismus Management: Principles and Surgical Techniques. first ed. Saunders; 1999. p. 359. 3. Aughton DJ. Clinical anophthalmia, dextrocardia, and skeletal anomalies in an infant born to consanguineous parents. Am J Med Genet 1990;37:178–81. 4. Madhavan C, Bhende P, Gopal L, Vasanthi SB, Kumaramanickavel G. Retinitis pigmentosa patients with sickle cell disease and dextrocardia and situs inversus syndrome. Indian J Ophthalmol 2001;49:193–5. 5. Brooks BP, Traboulsi EI. Congenital malformations of the eye. In Duane’s ophthalmology on CD-ROM. Lippincott Williams and Wilkins; 2006 chapter 40.
Monocular elevation deficiency with associated dextrocardia and situs inversus 6. Kresca LJ, Goldberg MF. Peters’ anomaly: dominant inheritance in one pedigree and dextrocardia in another. J Pediatr Ophthalmol Strabismus 1978;15(3):141–6. 7. Gökce M, Erdöl C, Celik S, Baykan M, Erdöl H, Sari A, et al. Marfan’s syndrome, dextrocardia and situs inversus associated with discrete
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subaortic stenosis and aortic insufficiency in an adult female: case report. J Heart Valve Dis 2001;10(3):415–7. 8. Fishman JE, Spaier AH, Cohen MM. Familial dextrocardia, divergent strabismus and situs inversus of optic disc. Am J Med Sci 1976;271(2):225–31.
Case Report
Monocular elevation deficiency with associated dextrocardia and situs inversus Saemah Nuzhat Zafar, FRCS ⇑; Aasma Nudrat Zafar, FCPS; Inayat Hussain, MCPS
Abstract A patient having monocular elevation deficiency with associated dextrocardia and situs inversus is reported. Review of the literature regarding ocular features described in association with dextrocardia is also presented. Keywords: Dextrocardia, Monocular elevation deficiency, Ptosis Ó 2013 Saudi Ophthalmological Society, King Saud University. Production and hosting by Elsevier B.V. All rights reserved. http://dx.doi.org/10.1016/j.sjopt.2013.03.001
Introduction Ocular abnormalities associated with dextrocardia have been described in the literature. There is little published data about these ocular findings. Monocular elevation deficiency with associated dextrocardia and situs inversus has not been reported earlier, according to our literature search using the search words dextrocardia, ocular associations, squint, monocular elevation deficiency and double elevator palsy.
Case Report A 13-year-old boy presented with right sided upper lid droop and movement of the lid while chewing. His parents had noticed this since early infancy. He did not have any family history of squint. His general physical examination was within normal limits. There was no history of ocular surgery. On examination he had 6/12 vision in the right eye (OD) with 0.75 DC at 180° and 6/6 vision in the left eye (OS) without any significant refractive error. He had moderate ptosis with jaw winking phenomenon on the right side. Orthoptic assessment showed elevation deficiency of the right eye in abduction and adduction alike. Right hypotropia measured 18 prism diopters (PD). There was right exotropia of 14PD.
Extraocular movements in the left eye were normal. His anterior segment and fundus examination were within normal limits in both eyes (OU). He was counselled about possibility of more than one surgery for correction of his squint and ptosis. The patient had normal growth and development. Chest X-ray posteroanterior view showed cardiac apex on the right (Fig. 1). ECG showed negative QRS vector in lead I and aVL and positive in aVR. No specific T inversion in chest lead was seen. Abdominal ultrasound showed situs inversus. His complete blood picture was within normal limits. Forced duction test was negative for the right inferior rectus .There was no superior oblique muscle laxity in the fellow eye. Modified Knapp surgery for the correction of hypotropia and exotropia was carried out. Post operatively, the primary position hypotropia was corrected to within 4 PD. Post operative elevation deficiency was appreciable in the right eye (Fig. 2). Ptosis correction was carried out 3 weeks later with good cosmetic results and barely detectable jaw winking phenomenon. In the present case the presence of dextrocardia with situs inversus, was an incidental finding during routine tests for general anaesthesia before surgical correction of MED with ptosis and jaw winking phenomenon in a child with normal phenotype. No further tests or imaging studies were advised.
Received 11 June 2012; received in revised form 27 December 2012; accepted 1 March 2013; available online 14 March 2013. Al-Shifa Trust Eye Hospital, Jhelum Road, Rawalpindi, 46000, Pakistan ⇑ Corresponding author. Tel.: +92 51 5487820. e-mail address: [email protected] (S.N. Zafar). Peer review under responsibility of Saudi Ophthalmological Society, King Saud University
Production and hosting by Elsevier
Access this article online: www.saudiophthaljournal.com www.sciencedirect.com
122
S.N. Zafar et al. Table 1. Reported ocular findings with dextrocardia. Ocular finding
Cardiac anomaly
Poland-Möbius syndrome Möbius syndrome Clinical anophthalmia Complex microphthalmia Corneal anaesthesia Retinitis pigmentosa Peters’ anomaly with colobomatous microphthalmos Monocular elevation deficiency
Dexrocardia1 Dexrocardia2 Dextrocardia3 Dextrocardia5 Dextrocardia, situs inversus4 Dextrocardia, situs inversus4 Dextrocardia6 Dextrocardia, situs inversus (present report)
Discussion
Figure 1. Xray showing dextrocardia.
Poland-Möbius syndrome has been reported with associated dextrocardia in three cases worldwide.1 In Möbius syndrome there is under development of the 6th and 7th cranial nerves. This leads to variable facial paralysis and the ocular findings of limited abduction beyond midpoint. Limited abduction may be a result of gaze palsy or tight medial recti. Association of Möbius syndrome with Poland syndrome and dextrocardia is a rare congenital anomaly.1 Dextrocardia has been reported as one of the systemic associations of Möbius syndrome, by Laby.2 Clinical anophthalmia, unusual facies, skeletal abnormalities and dextrocardia have been described in a patient.3 Retinitis pigmentosa with dextrocardia and situs inversus totalis is reported in the literature.4 Similarly ocular findings of Alstrom syndrome, dextrocardia and situs inversus totalis have been described.4 A patient with corneal anaesthesia, dextrocardia, situs inversus and atrial septal defect has been reported as well.4 Patient with dextrocardia and dysmorphic facies has been described in association with syndromes with complex microphthalmia as a phenotype.5 Kresca described concomitant occurrence of Peters’ anomaly with colobomatous microphthalmos and dextrocardia.6 (Table 1). Marfan’s syndrome associated with situs inversus and dextrocardia has been reported in the literature.7 Bilateral situs inversus of optic disc was seen in a family with familial dextrocardia.8 The present case adds monocular elevation deficiency to the reports of ocular associations of dextrocardia.
Conflict of interest The authors declare no conflict of interest in the presented case report.
References
Figure 2. Monocular elevation deficiency while looking up in both adduction and abduction.
1. Jung J, Kim HG, Ahn H, Cho SJ, Park EA. The first Korean case of Poland-Möbius syndrome associated with dextrocardia. Korean J Pediatr 2009;52:1388–91. 2. Laby DM. Mobius syndrome. In: Rosenbaum AL, Santiago AP, editors. Clinical Strabismus Management: Principles and Surgical Techniques. first ed. Saunders; 1999. p. 359. 3. Aughton DJ. Clinical anophthalmia, dextrocardia, and skeletal anomalies in an infant born to consanguineous parents. Am J Med Genet 1990;37:178–81. 4. Madhavan C, Bhende P, Gopal L, Vasanthi SB, Kumaramanickavel G. Retinitis pigmentosa patients with sickle cell disease and dextrocardia and situs inversus syndrome. Indian J Ophthalmol 2001;49:193–5. 5. Brooks BP, Traboulsi EI. Congenital malformations of the eye. In Duane’s ophthalmology on CD-ROM. Lippincott Williams and Wilkins; 2006 chapter 40.
Monocular elevation deficiency with associated dextrocardia and situs inversus 6. Kresca LJ, Goldberg MF. Peters’ anomaly: dominant inheritance in one pedigree and dextrocardia in another. J Pediatr Ophthalmol Strabismus 1978;15(3):141–6. 7. Gökce M, Erdöl C, Celik S, Baykan M, Erdöl H, Sari A, et al. Marfan’s syndrome, dextrocardia and situs inversus associated with discrete
123
subaortic stenosis and aortic insufficiency in an adult female: case report. J Heart Valve Dis 2001;10(3):415–7. 8. Fishman JE, Spaier AH, Cohen MM. Familial dextrocardia, divergent strabismus and situs inversus of optic disc. Am J Med Sci 1976;271(2):225–31.
