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The clinical findings seem consistent, future studies namely genetic studies in familial cases or on candidate genes will help to test this model.

Summary for the Clinician

Congenital Brown syndrome, congenital monocular elevation deficiency and vertical retraction syndrome as nonprogressive forms of strabismus with fibrotic changes share features with CCDDs and are found to be accompanied intraindividually or familial by other CCDDs.

Electromyographic, neuroradiologic and surgical findings support the hypothesis that Brown syndrome represents a CCDD.

Genetic linkage analysis or examination of candidate genes might prove or disprove a model that hypothesizes a continuous spectrum of congenital neurodevelopmental elevation disorders.

Acknowledgment The data of our own Brown syndrome [103] series and the literature on this topic as discussed in chapter 7.2.1.1 were evaluated in cooperation with Gregor Schaaf.

References

1.Breinin GM (1957) Electromyography: a tool in ocular and neurologic diagnosis. II. Muscle palsy. Arch Ophthalmol 57:165–175

2.Engle EC (2007) Oculomotility disorders arising from disruptions in brainstem motor neuron development. Arch Neurol 64(5):633–637

3.Engle EC, Leigh RJ (2002) Genes, brainstem development, and eye movements. Neurology 59(3):304–305

4.Hotchkiss MG, Miller NR, Clark AW, et al (1980) Bilateral Duane’s retraction syndrome. A clinical-pathologic case report. Arch Ophtalmol 98:870–874

5.Huber A, Esslen E (1969) Duane’s syndrome; observations on the pathogenesis and etiology of di erent formes of the Stilling-Duane-Turk-retraction syndrome. Doc Ophthalmol 26:619–628

6.Kohlhase J, Heinrich M, Schubert L, Liebers M, et al (2002) Okihiro syndrome is caused by SALL4 mutations. Hum Mol Genet 11(23):2979–2987

7.Miller NR (2005) Strabismus syndromes: the congenital cranial dysinnervation disorders (CCDDs). In: Taylor D, Hoyt CS (eds) Pediatric ophthalmology and strabismus. Elsevier, Saunders, Edinburgh, London

References 91

8.Miller NR, Kiel SM, Green WR, et al (1982) Unilateral Duane’s retraction syndrome (TypI). Arch Ophthalmol 100(9):1468–1472

9.Brown HW (1950) Congenital structural muscle anomalies. In: Allen JH (ed) Strabismus ophthalmic symposium I. VC Mosby, St. Louis

10.Al-Baradie R, Yamada K, St Hilaire C, et al (2002) Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SALL family. Am J Hum Genet 71(5):1195–1199 Epub 2002 Oct 22

11.Engle EC (2002) Applications of molecular genetics to the understanding of congenital ocular motility disorders. Ann N Y Acad Sci 956:55–63

12.Engle EC (2006) The genetic basis of complex strabismus. Pediatr Res 59(3):343–348

13.Engle EC (2007) Genetic basis of congenital strabismus. Arch Ophthalmol 125(2):189–195

14.Engle EC, Goumnerov BC, McKeown CA, et al (1997) Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. Ann Neurol 41(3): 314–325

15.Jen JC, Chan WM, Bosley TM, et al (2004) Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science 304(5676):1509–1513. Epub 2004 Apr 22

16.Gutowski NJ, Bosley TM, Engle EC (2003) The congenital cranial dysinnervation disorders. Neuromuscul Disord 13:573–578

17.Hans ten Donkelaar J, Lammens M, Hori A (2006) Clinical neuroembryology. Springer, Berlin

18.Purves D (ed) (2008) Neuroscience, 4th edn. Sinauer Associates, Massachusetts

19.Sanes DH (ed) (2006) Development of the nervous system, 2nd edn. Elsevier, Amsterdam

20.Woods CG (2004) Crossing the Midline. Science 304: 1455–1456

21.Nakano M, Yamada K, Fain J, et al (2001) Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nat Genet 29(3): 315–320

22.Yamada K, Andrews C, Chan WM, et al (2003) Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nat Genet 35(4):318–321. Epub 2003 Nov 2

23.Miyake N, Chilton J, Psatha M, et al (2008) Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane’s retraction syndrome. Science 321(5890):839–843. Epub 2008 Jul 24

24.Tischfield MA, Bosley TM, Salih MA (2005) Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. Nat Genet 37 (10):1035–1037. Epub 2005 Sep 11

927 Congenital Cranial Dysinnervation Disorders: Facts and Perspectives

25.Heuck G (1879) Über angeborenen vererbten Beweglich41. Bosley TM, Alorainy IA, Salih MA, et al (2008) The clinical

keitsdefect der Augen. Klin Monatsbl Augenheilkd 17: 253–278

26. Brodsky MC, Pollock SC, Buckley EG (1989) Neural

7misdirection in congenital ocular fibrosis syndrome: implications and pathogenesis. Pediatr Ophthalmol Strabismus 26(4):159–161

27.Cibis GW (1984) Congenital familial external ophthalmoplegia with co-contraction. Ophthalmic Paediatr Genet 4:163–167

28.Yamada K, Hunter DG, Andrews C, et al (2005) A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon. Arch Ophthalmol 123(9):1254–1259

29.Heidary G, Engle EC, Hunter DG (2008) Congenital fibrosis of the extraocular muscles. Semin Ophthalmol 23(1):3–8

30.Yazdani A, Chung DC, Abbaszadegan, et al (2005) A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2). Am J Ophthalmol 136(5):861–865

31.Hanisch F, Bau V, Zierz S (2005) Congenital fibrosis of extraocular muscles (CFEOM) and other phenotypes of congenital cranial dysinnervation syndromes (CCDD). Nervenarzt 76(4):395–402

32.Yamada K,ChanWM,Andrews C,et al (2004) Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). Invest Ophthalmol Vis Sci 45(7):2218–2223

33.Duane A (1905) Congenital deficiency of abduction, associated with impairment of adduction, retraction movements, contraction of the palpebral fissure and oblique movements of the eye. Arch Ophthalmol 34:139–159

34.De Respinis PA, Caputo AR,Wagner RS, et al (1993) Duane’s retraction syndrome. Surv Ophthalmol 38: 257–288

35.Kim HJ, Hwang JM (2005) Presence of the abducens nerve according to the type of Duane’s retraction syndrome. Ophthalmology 112(1):109–113

36.Ozkurt H, Basak M, Oral Y, et al (2003) Magnetic resonance imaging in Duane’s retraction syndrome. J Pediatr Ophthalmol Strabismus 40(1):19–22

37.Parsa CF, Grant E, Dillon WP Jr (1998) Absence of the abducens nerve in Duane syndrome verified by magnetic resonance imaging. Am J Ophthalmol 125(3):399–401

38.Tischfield MA, Chan WM, Grunert JF, et al (2006) HOXA1 mutations are not a common cause of Duane anomaly. Am J Med Genet A 140(8):900–902

39.Wabbels BK, Lorenz B, Kohlhase J (2004) No evidence of SALL4-mutations in isolated sporadic duane retraction “syndrome” (DURS). Am J Med Genet A 131(2):216–218

40.Bosley TM, Salih MA, Alorainy IA, et al (2007) Clinical characterization of the HOXA1 syndrome BSAS variant. Neurology 69(12):1245–1253

spectrum of homozygous HOXA1 mutations. Am J Med Genet A 146A(10):1235–1240

42.Holve S, Friedman B, Hoyme HE, et al (2003) Athabascan brainstem dysgenesis syndrome. Am J Med Genet A 120A(2):169–173

43.Stein HJ, Papst W (1969) Elektromyographische Untersuchungen zur Pathogenese und Therapie des Musculus obliquus superior-Sehnenscheidensyndroms (BrownSyndrom). Ber Zusammenkunft Dtsch Ophthalmol Ges 69:618–624

44.Wegmeyer H,Egea J,Rabe N,et al (2007) EphA4-dependent axon guidance is mediated by the RacGAP a2-Chimaerin. Neuron 55:756–767

45.Chan WM, Traboulsi EI, Arthur B, et al (2006) Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3. J Med Genet 43(3):e11

46.Haller S, Wetzel SG, Lütschg J (2008) Functional MRI, DTI and neurophysiology in horizontal gaze palsy with progressive scoliosis. Neuroradiology 50:453–459

47.Pieh C, Lagrèze WA (2007) Angeborene Fehlinnervationssyndrome. Ophthalmologe 104:1083–1096

48.Sicotte NL, Salamon G, Shattuck DW, et al (2006) Di usion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations. Neurology 67(3): 519–521

49.Amoiridis G, Tzagournissakis M, Christodoulou P, et al (2006) Patients with horizontal gaze palsy and progressive scoliosis due to ROBO3 E319K mutation have both uncrossed and crossed central nervous system pathways and perform normally on neuropsychological testing. Neurol Neurosurg Psychiatry 77:1047–1053; originally published online 13 Jun 2006

50.Brodsky MC (1991) Platysma-levator synkinesis in congenital third nerve palsy. Arch Ophthalmol 109:620

51.Brodsky MC (1998) Hereditary external ophthalmoplegia, synergistic divergence, jaw winking and oculocutaneous hypopigmentation. Ophthalmology 105:717–725

52.Traboulsi EI (2004) Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements. Trans Am Ophthalmol Soc 102:373–389

53.Traboulsi EI (2007) Congenital cranial dysinnervation disorders and more. J AAPOS 11(3):215–217

54.Astle WF, Rosenbaum AL (1985) Familial congenital fourth cranial nerve palsy. Arch Ophthalmol 103:532–535

55.Jiang Y, Matsuo T, Fuliwara H, et al (2005) ARIX and PHOX2B Polymorphisms in patients with congenital superior oblique muscle palsy. Acta Med Okayama 59(2): 55–62

References 93

56.De Souza-Dias CR, Goldchmitt M (2007) Further considerations about the ophthalmic features of the Möbius sequence, with data of 28 cases. Arq Bras Oftalmol 70(3): 451–457

57.Verzijl HT, van der Zwaag B, Cruysberg JR, et al (2003) Möbius syndrome redefined: a syndrome of rhombencephalic maldevelopment. Neurology 61(3):327–333

58.Von Noorden GK (2002) The history of strabismology. Wayenborgh, Ostende

59.Brown HW (1973) True and simulated superior oblique tendon sheath syndromes. Doc Ophthalmol 34:123–136

60.Wright KW (1999) Brown’s syndrome: diagnosis and management. Trans Am Ophthalmol Soc 47:1023–1107

61.Esser J, Mühlendyck H (2004) Jaensch-Brown-Syndrom. In: Kaufmann H (ed) Strabismus. Georg Thieme, Stuttgart, New York

62.Von Noorden GK, Campos EC (2002) Binocular vision and ocular motility, 6th edn. Mosby, St. Louis

63.Wright KW (ed) (2003) Pediatric ophthalmology and strabismus, 2nd edn. Springer, New York

64.D’Esposito M, Cotticelli L, Caccia-Perugini G, et al (1974) La Pseudoparalisis dell’oblique inferiore. Acta Neurol (Napoli) 29(6):625–658

65.Feric-Seiwerth F, Celic M (1972) Contribution to the knowledge of the superior oblique tendon sheath syndrome. In: Mein J et al (ed) Orthoptics – proceedings of the second international orthoptic congress, Amsterdam 1971. Excerpta Medica, Amsterdam, pp 354–359

66.Papst W, Stein HJ (1969) Zur Ätiologie des Musculus- obliquus-superior-Sehnenscheidensyndroms. Klin Monatsbl Augenheilkd 154:506–518

67.Catford GV, Hart JCD (1971) Superior oblique tendon sheath syndrome. An electromyographical study. Brit J Ophthalmol 55:155–160

68.Clarke WN, Noël LP (1985) Depression in adduction syndrome. Can J Ophthalmol 20:23–28

69.Barton JJ, Intriligator JM (2001) Vertical saccades in superiorobliquepalsyandBrown’ssyndrome.JNeuroophthalmol 21:250–255

70.Wilson ME, Eustis HS, Parks MM (1989) Brown’s syndrome. Surv Ophthalmol 34:153–172

71.Bhola R, Sharma P, Saxena R, et al (2004) Magnetic resonance imaging of an unusual case of Brown’s Syndrome with contralteral superior oblique palsy. J AAPO 8(2): 196–197

72.Castanera de Molina A, Munoz GL (1991) Brown syndrome associated with contralateral superior oblique palsy: a case report. J Pediatr Ophthalmol Strabismus 28: 310–313

73.Clarke WN, Noël LP (1993) Brown’s syndrome with contralateral inferior oblique overaction: a possible mechanism. Can J Ophthalmol 28(5):213–216

74.Berk AT, Erkan D, Sener C, et al (1994) Congenital Brown’s syndrome: clinical and surgical approach.Eur J Ophthalmol 4:138–143

75.Crawford JS, Orton RB, Labow-Daily L (1980) Late results of superior oblique muscle tenotomy in true Brown’s syndrome. Am J Ophthalmol 89:824–829

76.Eustis HS, O’Reilly C, Crawford JS (1987) Management of superior oblique palsy after surgery for true Brown’s syndrome. J Pediatr Ophthalmol Strabismus 24:10–16

77.Hadjadj E, Conrath J, Ridings B, et al (1998) Syndrome de Brown: actualités. J Fr Optalmol 21:276–282

78.Maggi R, Maggi C (2002) Tendon surgery in Brown’s syndrome. J Pediatr Opthalmol Strabismus 39:33–38

79.Parks MM, Eustis HS (1987) Simultaneous superior oblique tenotomy and inferior oblique recession in Brown’s syndrome. Ophthalmology 94:1043–1048

80.Sener EC, Özkan SB, Aribal ME, et al (1996) Evaluation of congenital Brown’s syndrome with magnetic resonance imaging. Eye 10:492–496

81.Von Noorden GK, Olivier P (1982) Superior oblique tenectomy in Brown’s syndrome. Ophthalmology 89:303–309

82.Lobefalo L, Mancini AT, Petitti MT, et al. (1999) A family with autosomal dominant distal arthrogryposis multiplex congenita and Brown syndrome. Ophthalmic Genet 20(4): 233–241

83.Mc Kusick VA (1990). Mendelian inheritance in Man, 9th edn. John Hopkins Univ, Baltimore

84.Paul OT, Hardage LK (1994) The heritability of strabismus. Ophthalmic Genet 15(1):1–18

85.Iannaccone A, McIntosh N, Ciccarelli ML (2002) Familial unilateral Brown syndrome. Ophthalmic Genet 23(3): 175–184

86.Miller MT (1991) Thalidomide embryopathy: a model for the study of congenital incomitant horizontal strabismus. Trans Am Ophthalmol Soc 89:623–674

87.Kida M (ed) (1987) Thalidomide embryopathy in Japan. Kodansha, Tokyo

88.Bhola R, Rosenbaum AL, Ortube MC, et al (2005) Highresolution magnetic imaging demonstrates varied anatomic abnormalities in Brown syndrome. J AAPOS 9(5): 438–448

89.Capasso L, Torre A, Gagliardi V (2001) Spontaneous resolution of congenital bilateral Brown’s Syndrome. Ophthalmologica 215:372–375

90.Gregersen E, Rindziunski E (1993) Brown’s syndrome. Acta Ophthalmol 71:371–376

91.Kaban TJ, Smith K, Orton RB, et al (1993) Natural history of presumed congenital Brown syndrome. Arch Ophthalmol 111:943–946

92.Mühlendyck H (1996) Jaensch-Brown-Syndrom – Ursache und operatives Vorgehen. Klin Monatsbl Augenheilkd 208:37–47

93.Crawford JS (1976) Surgical treatment of true Brown’s syndrome. Am J Ophthalmol 81:289–296

94.White JW (1942) Paralysis of the superior rectus and inferior oblique muscles in the same eye. Arch Ophthalmol 27:366–371

947 Congenital Cranial Dysinnervation Disorders: Facts and Perspectives

95.Olson RJ, Scott WE (1998) Dissociative phenomena in con100. Büttner-Ennever JA (2006) The extraocular motor nuclei:

genital monocular elevation deficiency. J AAPOS 2:72–8

96.Mims JL 3rd (2005) “Double elevator palsy” eye supraducts during stage II general anesthesia supporting hypothesis of

7(supra)nuclear etiology. Binocul Vis Strabismus Q 20(4): 199–204

97.Leigh RJ, Zee DS (2006) The neurology of eye movements, 4th edn. Oxford University, Oxford, New York

98.Bell J A, Fielder A, Viney S (1990) Congenital double elevator palsy in identical twins. J Clin Neuro-ophthalmol 10(1):32–34

99.Verma MJ, Faridi MM (1992) Ocular motility disturbances (Duane retraction syndrome and double elevator palsy) with congenital heart disease, a rare association with Goldenhar syndrome–a case report. Indian J Ophthalmol 40(2):61–62

organization and functional neuroanatomy. In: BüttnerEnnever JA (ed) Neuroanatomy of the oculomotor system. Elsevier, Amsterdam

101.Horn AK, Eberhorn A, Härtig W, et al (2008) Perioculomotor cell groups in monkey and man defined by their histochemical and functional properties: reappraisal of the Edinger-Westphal nucleus. J Comp Neurol 507(3): 1317–1335

102.Sherrington CS (1979) Selected writings of Sir Charles Sherrington. In: Denny-Brown D (ed) Oxford University, Oxford

103.Parks MM, Brown M (1975) Superior oblique tendon sheath syndrome of Brown. Am J Ophthalmol 79(1): 82–86