Baumgarten M: Erfahrungen uber den Strabismus und die Muskeldurchschneidung am Auge in physiologisch-pathologischer und therapeutischer Beziehung. Monatsschr Med Augenheilkd Chir. 1840, 3: 474-499.
Google Scholar
Heuck G: Uber angeborenen verebten Beweglichkeitsdefekte der Augen. Klin Monatsbl Augeneilk. 1879, 17: 253-278.
Google Scholar
Magli A, Greco GM, D'Esposito M: Genetica della oftalmoplegia congenita esterna. Atti LVIII Congresso SOI. Roma. 1977
Google Scholar
Mollica F, Li Volti S, Incorpora G, Tita F, Tomarchio S, Moro F: Variabilité intrafamiliale de l'ophtalmoplegie externe congenitale. Etude d'une famille sicilienne. J Génét Hum. 1980, 28: 23-30.
CAS
PubMed
Google Scholar
Hiatt RL, Halle AA: General fibrosis syndrome. Ann Ophthalmol. 1983, 15: 1103-1109.
CAS
PubMed
Google Scholar
Abeloos MC, Cordonnier M, Van Nechel C, Van Bogaert P, Gérard JM, Van Regemoorter N: Fibrose Congénitale des muscles oculaires: un diagnostic pour plusieurs tableaux cliniques. Bull Soc Belge Ophtalmol. 1990, 239: 61-74.
CAS
PubMed
Google Scholar
Laughlin RC: Congenital fibrosis of the extraocular muscles. A report of six cases. Am J Ophthalmol. 1956, 41: 432-438.
Article
CAS
PubMed
Google Scholar
McKusick VA: Mendelian inheritance in man: catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes. Baltimore: The Johns Hopkins University Press. 1990, 9
Google Scholar
Engle EC, Kunkel LM, Specht LA, Beggs AH: Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. Nat Genet. 1994, 7: 69-73.
Article
CAS
PubMed
Google Scholar
Engle EC, Marondel I, Houtman WA, de Vries B, Loewenstein A, Lazar M, Ward DC, Kucherlapati R, Beggs AH: Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12. Am J Hum Genet. 1995, 57 (5): 1086-1094.
CAS
PubMed
PubMed Central
Google Scholar
Engle EC, Goumnerov BC, McKeown CA, Schatz M, Johns DR, Porter JD, Beggs AH: Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. Ann Neurol. 1997, 41: 314-325.
Article
CAS
PubMed
Google Scholar
Lees F: Congenital static familial ophthalmoplegia. J Neurol Neurosurg Psychiatry. 1960, 23: 46-51.
Article
CAS
PubMed
PubMed Central
Google Scholar
Catford GV: A familial musculo-fascial anomaly. Trans Ophtalmol Soc UK. 1966, 86: 19-36.
CAS
Google Scholar
Cibis GW, Kies R, Lawwill T, Varghese G: Electromyography in congenital familial ophthalmoplegia. Strabismus. 1984, 2: 379-389.
Google Scholar
Magli A, Santoro L, Perretti A, D'Esposito M, Caruso G: Electromyographic and enzymatic studies on families with external congenital ophthalmoplegia. Reprinted from Paediatric Ophthalmology. Edited by: Francois J, Maione M. 1982, John Wiley & Sons and Cortina Verona, 19: 371-374.
Google Scholar
Black G, Perveen R, Hatchwell E, Reck A, Clayton-Smith J: Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia. J Med Genet. 1998, 35 (12): 985-8.
Article
CAS
PubMed
PubMed Central
Google Scholar
Houtman WA, van Weerden TW, Robinson PH, de Vries B, Hoogenraad TU: Hereditary congenital external ophthalmoplegia. Ophthalmologica. 1986, 193: 207-218.
Article
CAS
PubMed
Google Scholar
Engle EC: Applications of molecular genetics to the understanding of congenital ocular motility disorders. Ann N Y Acad Sci. 2002, 956: 55-63.
Article
CAS
PubMed
Google Scholar
Engle E: The molecular basis of the congenital fibrosis syndromes. Strabismus. 2002, 10 (2): 125-128. 10.1076/stra.10.2.125.8142.
Article
PubMed
Google Scholar
Lorenz B: Genetics of isolated and syndromic strabismus: facts and perspectives. Strabismus. 2002, 10 (2): 147-156. 10.1076/stra.10.2.147.8133.
Article
PubMed
Google Scholar
Wang S, Zwaan J, Mullaney PB, Jabak MH, Al-Awad A, Beggs AH, Engle EC: Congenital fibrosis of the extraocular muscles type 2 (CFEOM2), an inherited exotropic strabismus fixus, maps to distal 11q13. Am J Hum Genet. 1998, 63: 517-525. 10.1086/301980.
Article
CAS
PubMed
PubMed Central
Google Scholar
Doherty E, Macy M, Wang S, Dykeman C, Melanson M, Engle E: CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3. Invest Ophthalmol Vis Sci. 1999, 40 (8): 1687-1694.
CAS
PubMed
Google Scholar
Traboulsi E, Lee B, Mousawi A, Khamis A, Engle E: Evidence of genetic heterogeneity in autosomal recessive Congenital Fibrosis of the Extraocular Muscles (CFEOM). Am J Ophthalmol. 2000, 129: 658-662. 10.1016/S0002-9394(99)00467-5.
Article
CAS
PubMed
Google Scholar
Nakano M, Yamada K, Fain J, Sener EC, Sellek CJ, Awad AH, Zwaan J, Mullaney PB, Bosley TM, Engle EC: Homozygous mutations in ARIX (PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nat Genet. 2001, 29 (3): 315-20. 10.1038/ng744.
Article
CAS
PubMed
Google Scholar
Sener EC, Lee BA, Turgut B, Akarsu AN, Engle EC: New clinical variation of a fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12. Arch Ophthalmol. 2000, 118 (8): 1090-1097.
Article
CAS
PubMed
Google Scholar
D'Esposito F, Magli A, de Berardinis T, Bhattacharya SS: Oftalmoplegia congenita esterna: conferma della presenza di un locus genetico sul cromosoma 12. IX Meeting of the International Society for Genetic Eye Diseases, Siena. 1992
Google Scholar
Engle Ec, McIntosh N, Yamada K, Lee BA, Johnson R, O'Keefe M, Letson R, London A, Ballard E, Ruttum M, Matsumoto N, Saito N, Collins M, Morris L, Monte M, Magli A, de Berardinis T: CFEOM 1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. BMC Genet. 2002, 3 (1): 3-10.1186/1471-2156-3-3.
Article
PubMed
PubMed Central
Google Scholar
Venkatesh CP, Pillai VS, Raghunath A, Prakash VS, Vathsala R, Pericak-Vance MA, Kumar A: Clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles in an Indian family. Mol Vis. 2002, 8: 294-297.
CAS
PubMed
Google Scholar
Hotchkiss MG, Miller NR, Clark AW, Green WG: Bilateral Duane's retraction syndrome: A clinical-pathological case report. Arch Ophthalmol. 1980, 98: 870-874.
Article
CAS
PubMed
Google Scholar
Miller NR, Kiel SM, Green WR, Clark AW: Unilateral Duane's retraction syndrome (type 1). Arch Ophthalmol. 1982, 100: 1468-1472.
Article
CAS
PubMed
Google Scholar
Gottlob I, Jain S, Engle E: Elevation of one eye during tooth brushing. Am J Ophthalmol. 2002, 134 (3): 459-10.1016/S0002-9394(02)01540-4.
Article
PubMed
Google Scholar
Traboulsi EI, Jaafar MS, Kattan H, Parks MM: Congenital fibrosis of the extraocular muscles: Report of 24 cases illustrating the clinical spectrum and surgical management. Am Orthop J. 1993, 43: 45-53.
Google Scholar
Apt L, Axelord RN: Generalized fibrosis of the extraocular muscles. Am J Ophtalmol. 1978, 85: 822-829.
Article
CAS
Google Scholar
Boergen P: Proceedings of 18th European Strabismological Association, ed. Kaufman. 1989, 55-59.
Google Scholar
Ferrer JA: General Fibrosis Syndrome. Second Congress of the International Strabismological Association. Paris: Diffus Générale de Librairie. 1976, 352-361.
Google Scholar
Ferrer JA: Letters to Editor:Congenital Fibrosis of the Extraocular Muscles. Ophthalmology. 1996, 63 (10): 1517-1518.
Article
Google Scholar
Hertle WH, Katowitz JA, Young TL, Quinn GE, Farber MG: Congenital unilateral fibrosis, blepharoptosis, and enophthalmos syndrome. Ophthalmology. 1992, 99 (3): 347-355.
Article
CAS
PubMed
Google Scholar
Kanski JJ: Oftalmologia clinica. USES Edizioni Scientifiche Firenze. 1989, 20-21.
Google Scholar
Magli A, de Berardinis T, Gagliardi V, Pignalosa G: Classificazione, valutazione e trattamento delle blefaroptosi in età pediatrica. Boll Ocul. 1998, 77 (suppl 4): 183-193.
Google Scholar
D'Esposito M, Bonavolontà G, Magli A, Aurilia P: Ptosis correction in the context of the treatment of external congenital ophthalmoplegia. Ophthalmic Plast Reconstr Surg. 1989, 5 (3): 176-181.
Article
Google Scholar