Skip to main content
PMC home page
The British Journal of Ophthalmology logoLink to The British Journal of Ophthalmology
. 1990 Jul;74(7):421–426. doi: 10.1136/bjo.74.7.421

The eye in the CHARGE association.

I M Russell-Eggitt 1, K D Blake 1, D S Taylor 1, R K Wyse 1
PMCID: PMC1042153  PMID: 2378857

Abstract

CHARGE association includes patients with at least four features prefixed by the letters of the mnemonic: Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies and/or hearing loss. Many also have facial palsy. We report a series identified by collaboration within one centre of all specialties concerned in the management of the CHARGE association. Ocular abnormalities were found in 44 out of 50 patients with the CHARGE association. Of these, 41 had 'typical' colobomata. The majority had retinochoroidal colobomata with optic nerve involvement, but only 13 patients had an iris defect. Two patients had atypical iris colobomata with normal fundi. Additional features were microphthalmos in 21 patients, optic nerve hypoplasia in four, nystagmus in 12, and a vertical disorder of eye movement in four of the 22 cases with facial palsy. We report an incidence of coloboma in the CHARGE association of 86% (43/50) compared with a previous cumulative reported incidence of 66% (112/170). We believe that there may have been previous underdiagnosis of colobomata in children with multiple congenital abnormalities.

Full text

PDF
421

Images in this article

422Image
on p.422
423Image
on p.423

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. August G. P., Rosenbaum K. N., Friendly D., Hung W. Hypopituitarism and the CHARGE association. J Pediatr. 1983 Sep;103(3):424–425. doi: 10.1016/s0022-3476(83)80421-1. [DOI] [PubMed] [Google Scholar]
  2. Barakat A. Y., Butler M. G. Renal and urinary tract abnormalities associated with chromosome aberrations. Int J Pediatr Nephrol. 1987 Oct-Dec;8(4):215–226. [PMC free article] [PubMed] [Google Scholar]
  3. Bergstrom L., Baker B. B. Syndromes associated with congenital facial paralysis. Otolaryngol Head Neck Surg. 1981 Mar-Apr;89(2):336–342. doi: 10.1177/019459988108900238. [DOI] [PubMed] [Google Scholar]
  4. Boles D. J., Bodurtha J., Nance W. E. Goldenhar complex in discordant monozygotic twins: a case report and review of the literature. Am J Med Genet. 1987 Sep;28(1):103–109. doi: 10.1002/ajmg.1320280115. [DOI] [PubMed] [Google Scholar]
  5. Brown O. E., Burns D. K., Smith T. H., Rutledge J. C. Bilateral posterior choanal atresia: a morphologic and histologic study, and computed tomographic correlation. Int J Pediatr Otorhinolaryngol. 1987 Aug;13(2):125–142. doi: 10.1016/0165-5876(87)90089-9. [DOI] [PubMed] [Google Scholar]
  6. Chestler R. J., France T. D. Ocular findings in CHARGE syndrome. Six case reports and a review. Ophthalmology. 1988 Dec;95(12):1613–1619. doi: 10.1016/s0161-6420(88)32968-4. [DOI] [PubMed] [Google Scholar]
  7. Curatolo P., Libutti G., Brinchi V. Infantile spasms and the CHARGE association. Dev Med Child Neurol. 1983 Jun;25(3):367–369. doi: 10.1111/j.1469-8749.1983.tb13773.x. [DOI] [PubMed] [Google Scholar]
  8. Cyran S. E., Martinez R., Daniels S., Dignan P. S., Kaplan S. Spectrum of congenital heart disease in CHARGE association. J Pediatr. 1987 Apr;110(4):576–578. doi: 10.1016/s0022-3476(87)80555-3. [DOI] [PubMed] [Google Scholar]
  9. Davenport S. L., Hefner M. A., Mitchell J. A. The spectrum of clinical features in CHARGE syndrome. Clin Genet. 1986 Apr;29(4):298–310. doi: 10.1111/j.1399-0004.1986.tb01258.x. [DOI] [PubMed] [Google Scholar]
  10. Duncan N. O., 3rd, Miller R. H., Catlin F. I. Choanal atresia and associated anomalies: the CHARGE association. Int J Pediatr Otorhinolaryngol. 1988 May;15(2):129–135. doi: 10.1016/0165-5876(88)90063-8. [DOI] [PubMed] [Google Scholar]
  11. Evans J. A., Reggin J., Greenberg C. Tracheal agenesis and associated malformations: a comparison with tracheoesophageal fistula and the VACTERL association. Am J Med Genet. 1985 May;21(1):21–38. doi: 10.1002/ajmg.1320210104. [DOI] [PubMed] [Google Scholar]
  12. Fielder A. R., Russell-Eggitt I. R., Dodd K. L., Mellor D. H. Delayed visual maturation. Trans Ophthalmol Soc U K. 1985;104(Pt 6):653–661. [PubMed] [Google Scholar]
  13. Goldson E., Smith A. C., Stewart J. M. The CHARGE association. How well can they do? Am J Dis Child. 1986 Sep;140(9):918–921. doi: 10.1001/archpedi.1986.02140230088040. [DOI] [PubMed] [Google Scholar]
  14. Hall B. D. Choanal atresia and associated multiple anomalies. J Pediatr. 1979 Sep;95(3):395–398. doi: 10.1016/s0022-3476(79)80513-2. [DOI] [PubMed] [Google Scholar]
  15. Hittner H. M., Hirsch N. J., Kreh G. M., Rudolph A. J. Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation--a syndrome. J Pediatr Ophthalmol Strabismus. 1979 Mar-Apr;16(2):122–128. doi: 10.3928/0191-3913-19790301-10. [DOI] [PubMed] [Google Scholar]
  16. Ho C. K., Kaufman R. L., Podos S. M. Ocular colobomata, cardiac defect, and other anomalies: a study of seven cases including two sibs. J Med Genet. 1975 Sep;12(3):289–293. doi: 10.1136/jmg.12.3.289. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Kaplan L. C. Choanal atresia and its associated anomalies. Further support for the CHARGE Association. Int J Pediatr Otorhinolaryngol. 1985 Mar;8(3):237–242. doi: 10.1016/s0165-5876(85)80084-7. [DOI] [PubMed] [Google Scholar]
  18. Koletzko B., Majewski F. Congenital anomalies in patients with choanal atresia: CHARGE-association. Eur J Pediatr. 1984 Sep;142(4):271–275. doi: 10.1007/BF00540250. [DOI] [PubMed] [Google Scholar]
  19. Leclerc J. E., Fearon B. Choanal atresia and associated anomalies. Int J Pediatr Otorhinolaryngol. 1987 Oct;13(3):265–272. doi: 10.1016/0165-5876(87)90107-8. [DOI] [PubMed] [Google Scholar]
  20. Lessick M. L., Szego K., Wong P. W. Trisomy 22 mosaicism with normal blood chromosomes. Case report with literature review. Clin Pediatr (Phila) 1988 Sep;27(9):451–454. doi: 10.1177/000992288802700908. [DOI] [PubMed] [Google Scholar]
  21. Lillquist K., Warburg M., Andersen S. R., Hägerstrand I. Colobomata of the iris, ciliary body and choroid in an infant with oesophago-tracheal fistula and congenital heart defects. An unknown malformation complex. Acta Paediatr Scand. 1980 May;69(3):427–430. doi: 10.1111/j.1651-2227.1980.tb07106.x. [DOI] [PubMed] [Google Scholar]
  22. Lin A. E., Chin A. J., Devine W., Park S. C., Zackai E. The pattern of cardiovascular malformation in the CHARGE association. Am J Dis Child. 1987 Sep;141(9):1010–1013. doi: 10.1001/archpedi.1987.04460090087034. [DOI] [PubMed] [Google Scholar]
  23. Mansour A. M., Wang F., Henkind P., Goldberg R., Shprintzen R. Ocular findings in the facioauriculovertebral sequence (Goldenhar-Gorlin syndrome). Am J Ophthalmol. 1985 Oct 15;100(4):555–559. doi: 10.1016/0002-9394(85)90681-6. [DOI] [PubMed] [Google Scholar]
  24. Metlay L. A., Smythe P. S., Miller M. E. Familial CHARGE syndrome: clinical report with autopsy findings. Am J Med Genet. 1987 Mar;26(3):577–581. doi: 10.1002/ajmg.1320260311. [DOI] [PubMed] [Google Scholar]
  25. Oley C. A., Baraitser M., Grant D. B. A reappraisal of the CHARGE association. J Med Genet. 1988 Mar;25(3):147–156. doi: 10.1136/jmg.25.3.147. [DOI] [PMC free article] [PubMed] [Google Scholar]
  26. Pagon R. A., Graham J. M., Jr, Zonana J., Yong S. L. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr. 1981 Aug;99(2):223–227. doi: 10.1016/s0022-3476(81)80454-4. [DOI] [PubMed] [Google Scholar]
  27. Pardo J. M., Chua C. The CHARGE association in a male newborn infant. Diagnostic and therapeutic considerations. Clin Pediatr (Phila) 1985 Sep;24(9):531–533. doi: 10.1177/000992288502400913. [DOI] [PubMed] [Google Scholar]
  28. Rohn R. D., Leffell M. S., Leadem P., Johnson D., Rubio T., Emanuel B. S. Familial third-fourth pharyngeal pouch syndrome with apparent autosomal dominant transmission. J Pediatr. 1984 Jul;105(1):47–51. doi: 10.1016/s0022-3476(84)80355-8. [DOI] [PubMed] [Google Scholar]
  29. Schinzel A., Schmid W., Fraccaro M., Tiepolo L., Zuffardi O., Opitz J. M., Lindsten J., Zetterqvist P., Enell H., Baccichetti C. The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture. Hum Genet. 1981;57(2):148–158. doi: 10.1007/BF00282012. [DOI] [PubMed] [Google Scholar]
  30. Stewart G., Young D. G., Azmy A. F. CHARGE association in neonates presenting with choanal atresia. Z Kinderchir. 1987 Feb;42(1):12–13. doi: 10.1055/s-2008-1075543. [DOI] [PubMed] [Google Scholar]
  31. Taylor A. I. Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome. J Med Genet. 1968 Sep;5(3):227–252. doi: 10.1136/jmg.5.3.227. [DOI] [PMC free article] [PubMed] [Google Scholar]
  32. Tovo P. A., Davi G., Fraceschini P., Delpiano A. Thymic hormone dependent immunodeficiency in an infant with partial trisomy of chromosome 22. Thymus. 1986;8(5):313–318. [PubMed] [Google Scholar]

Articles from The British Journal of Ophthalmology are provided here courtesy of BMJ Publishing Group

RESOURCES