Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients

Ophthalmology

Volumn 123, Issue 10, 2016, Pages 2137-2146

  van Trier, Dorothée C ^a   Vos, Anna M C ^a,b   Draaijer, Renske W ^a   van der Burgt, Ineke ^a   Draaisma, Jos M Th ^a   Cruysberg, Johannes R M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RIJNSTATE HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; K RAS PROTEIN; PROTEIN TYROSINE PHOSPHATASE SHP 2; SOS PROTEIN;

ADOLESCENT; ADULT; AMBLYOPIA; ANTHROPOMETRY; ARTICLE; ASTIGMATISM; BIOMICROSCOPY; CHILD; CLINICAL ARTICLE; CROSS-SECTIONAL STUDY; EMBRYOTOXON; EPICANTHUS; EYE EXAMINATION; EYE MOVEMENT DISORDER; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPERTELORISM; INFANT; INTRAOCULAR PRESSURE; LAGOPHTHALMOS; LOWER EYELID; MALE; MEDICAL HISTORY; MUSCLE FUNCTION; MYOPIA; NOONAN SYNDROME; OPTIC NERVE HYPOPLASIA; OUTCOME ASSESSMENT; PALPEBRAL FISSURE; PHOTOGRAMMETRY; PRIORITY JOURNAL; PROMINENT CORNEAL NERVE; PROSPECTIVE STUDY; PTOSIS; REFRACTION ERROR; SEQUENCE ANALYSIS; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; STEREOSCOPIC VISION; STRABISMUS; TERTIARY CARE CENTER; UPPER EYELID; COMPLICATION; EYE DISEASES; GENETIC SCREENING; GENETICS; GENOTYPE; MUTATION; PRESCHOOL CHILD; PROCEDURES; VISUAL SYSTEM EXAMINATION; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CROSS-SECTIONAL STUDIES; DIAGNOSTIC TECHNIQUES, OPHTHALMOLOGICAL; EYE DISEASES; FEMALE; GENETIC TESTING; GENOTYPE; HUMANS; INFANT; MALE; MUTATION; NOONAN SYNDROME; PROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84991107745     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2016.06.061     Document Type: Article

References (38)

1. 1 Noonan, J.A., Ehmke, D.A., Associated noncardiac malformations in children with congenital heart disease. J Pediatrics 63 (1963), 468–470.
2. 2 Allanson, J.E., Noonan syndrome. J Med Genet 24 (1987), 9–13.
3. 3 van der Burgt, I., Noonan syndrome. Orphanet J Rare Dis, 2, 2007, 4.
4. 4 Nora, J.J., Nora, A.H., Sinha, A.K., et al. The Ullrich-Noonan syndrome (Turner phenotype). Am J Dis Child 127 (1974), 48–55.
5. 5 Mendez, H.M., Opitz, J.M., Noonan syndrome: a review. Am J Med Genet 21 (1985), 493–506.
6. 6 Tartaglia, M., Mehler, E.L., Goldberg, R., et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 29 (2001), 465–468.
7. 7 Tartaglia, M., Kalidas, K., Shaw, A., et al. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet 70 (2002), 1555–1563.
8. 8 Carta, C., Pantaleoni, F., Bocchinfuso, G., et al. Germline missense mutations affecting KRAS isoform B are associated with a severe Noonan syndrome phenotype. Am J Hum Genet 79 (2006), 129–135.
9. 9 Tartaglia, M., Pennacchio, L.A., Zhao, C., et al. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet 39 (2007), 75–79.
10. 10 Razzaque, M.A., Nishizawa, T., Komoike, Y., et al. Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat Genet 39 (2007), 1013–1017.
11. 11 Niihori, T., Aoki, Y., Narumi, Y., et al. Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet 38 (2006), 294–296.
12. 12 Cordeddu, V., Di Schiavi, E., Pennacchio, L.A., et al. Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet 41 (2009), 1022–1026.
13. 13 Cirstea, I.C., Kutsche, K., Dvorsky, R., et al. A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet 42 (2010), 27–29.
14. 14 Nava, C., Hanna, N., Michot, C., et al. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J Med Genet 44 (2007), 763–771.
15. 15 Cordeddu, V., Yin, J.C., Gunnarsson, C., et al. Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome. Hum Mutat 36 (2015), 1080–1087.
16. 16 Aoki, Y., Niihori, T., Banjo, T., et al. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. Am J Hum Genet 93 (2013), 173–180.
17. 17 Noonan, J.A., Noonan syndrome. An update and review for the primary pediatrician. Clin Pediatr 33 (1994), 548–555.
18. 18 Lee, N.B., Kelly, L., Sharland, M., Ocular manifestations of Noonan syndrome. Eye (Lond) 6 (1992), 328–334.
19. 19 Marin, L.R., da Silva, F.T., de Sá, L.C., et al. Ocular manifestations of Noonan syndrome. Ophthalmic Genet 33 (2012), 1–5.
20. 20 van der Burgt, I., Berends, E., Lommen, E., et al. Clinical and molecular studies in a large Dutch family with Noonan syndrome. Am J Med Genet 53 (1994), 187–191.
21. 21 Farkas, L.G., Anthropometry of the head and face. 2nd ed, 1994, Raven Press, New York.
22. 22 Small, R.G., Sabates, N.R., Burrows, D., The measurement and definition of ptosis. Ophthal Plast Reconstr Surg 5 (1989), 171–175.
23. 23 Stengel-Rutkowski, S., Schimanek, P., Wernheimer, A., Anthropometric definitions of dysmorphic facial signs. Hum Genet 67 (1984), 272–295.
24. 24 Croonen, E.A., Nillesen, W., Schrander, C., et al. Noonan syndrome: comparing mutation-positive with mutation-negative Dutch patients. Mol Syndromol 4 (2013), 227–234.
25. 25 Reynolds, D.J., Rubin, S.E., Fox, J., Kodsi, S.R., Ocular manifestations of Noonan syndrome in the pediatric patient. J AAPOS 8 (2004), 282–283.
26. 26 Alfieri, P., Cesarini, L., Zampino, G., et al. Visual function in Noonan and LEOPARD syndrome. Neuropediatrics 39 (2008), 335–340.
27. 27 Schwartz, D.E., Noonan's syndrome associated with ocular abnormalities. Am J Ophthalmol 73 (1972), 955–960.
28. 28 Hill, V., Griffiths, W., Kerr-Muir, M., Hardman-Lea, S., Non-bullous congenital ichthyosiform erythroderma, with ocular albinism and Noonan syndrome. Clin Exp Dermatol 25 (2000), 611–614.
29. 29 Guerin, A., So, J., Mireskandari, K., et al. Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld-anomaly in a child with PTPN11 mutation. Am J Med Genet A 167A (2015), 403–406.
30. 30 Hashida, N., Ping, X., Nishida, K., MAPK activation in mature cataract associated with Noonan syndrome. BMC Ophthalmol, 13, 2013, 70.
31. 31 Ascaso, F.J., Del Buey, M.A., Huerva, V., et al. Noonan's syndrome with keratoconus and optic disc coloboma. Eur J Ophthalmol 3 (1993), 101–103.
32. 32 Kleanthous, L., Cruz, D., D'Graham, E., Efthimiou, J., Colobomata associated with Noonan's syndrome. Postgrad Med J 63 (1987), 559–561.
33. 33 Verloes, A., Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome?. J Med Genet 30 (1993), 425–426.
34. 34 Au, Y.K., Collins, W.P., Patel, J.S., Asamoah, A., Spontaneous corneal rupture in Noonan syndrome. A case report. Ophthalmic Genet 18 (1997), 39–41.
35. 35 Mukhopadhyaya, U., Chakraborti, C., Mondal, A., et al. Spontaneous dislocation of a crystalline lens to the anterior chamber with pupillary block glaucoma in Noonan syndrome: a case report. Pan Afr Med J, 17, 2014, 135.
36. 36 Padrón-Pérez, N., Sanz-Moreno, S., Lillo-Sopena, J., Arruga, J., Noonan syndrome with bilateral acute angle-closure. Clin Experiment Ophthalmol 43 (2015), 90–92.
37. 37 Armour, C.M., Allanson, J.E., Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations. J Med Genet 45 (2008), 249–254.
38. 38 Pilat, A., Sibley, D., McLean, R.J., et al. High-resolution imaging of the optic nerve and retina in optic nerve hypoplasia. Ophthalmol 122 (2015), 1330–1339.