Skip to main content
NCBI home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1993 Aug;30(8):664–669. doi: 10.1136/jmg.30.8.664

Classification of microphthalmos and coloboma.

M Warburg 1
PMCID: PMC1016495  PMID: 8411053

Abstract

A new classification of microphthalmos and coloboma is proposed to bring order to the complexity of clinical and aetiological heterogeneity of these conditions. A phenotypic classification is presented which may help the clinician to give a systematic description of the anomalies. The phenotype does not predict the aetiology but a systematic description of ocular and systemic anomalies improves syndrome identification. There are two major classes, total and partial microphthalmos, and a subclassification which follows the embryology of the anomalies. The aetiological classification consists of three classes: (1) genetic (monogenic and chromosomal), (2) prenatally acquired (teratological agents and intrauterine deformations), and (3) associations. Genetic disorders give rise to malformations; prenatally acquired anomalies are disruptions or deformations. The aetiological classification can be applied to other congenital birth defects and improves counselling of families. Recurrence risks vary considerably between the classes.

Full text

PDF
664

Selected References

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

  1. Apple D. J. New aspects of colobomas and optic nerve anomalies. Int Ophthalmol Clin. 1984 Spring;24(1):109–121. doi: 10.1097/00004397-198402410-00009. [DOI] [PubMed] [Google Scholar]
  2. Bateman J. B., Maumenee I. H. Colobomatous macrophthalmia with microcornea. Ophthalmic Paediatr Genet. 1984 Aug;4(2):59–66. doi: 10.3109/13816818409007839. [DOI] [PubMed] [Google Scholar]
  3. Baumann W., Greinacher I., Emmrich P., Spranger J. VATER- oder VACTERL-Syndrom. Klin Padiatr. 1976 Jul;188(4):328–337. [PubMed] [Google Scholar]
  4. Benke P. J. The isotretinoin teratogen syndrome. JAMA. 1984 Jun 22;251(24):3267–3269. [PubMed] [Google Scholar]
  5. Bernuzzi V., Desor D., Lehr P. R. Developmental alternations in offspring of female rats orally intoxicated by aluminum chloride or lactate during gestation. Teratology. 1989 Jul;40(1):21–27. doi: 10.1002/tera.1420400104. [DOI] [PubMed] [Google Scholar]
  6. Berry F. D. A modified tissue expander for socket enlargement in clinical anophthalmos. Ophthal Plast Reconstr Surg. 1991;7(1):41–47. doi: 10.1097/00002341-199103000-00005. [DOI] [PubMed] [Google Scholar]
  7. Blomdahl S. Ultrasonic measurements of the eye in the newborn infant. Acta Ophthalmol (Copenh) 1979;57(6):1048–1056. doi: 10.1111/j.1755-3768.1979.tb00536.x. [DOI] [PubMed] [Google Scholar]
  8. Bronshtein M., Zimmer E., Gershoni-Baruch R., Yoffe N., Meyer H., Blumenfeld Z. First- and second-trimester diagnosis of fetal ocular defects and associated anomalies: report of eight cases. Obstet Gynecol. 1991 Mar;77(3):443–449. [PubMed] [Google Scholar]
  9. Brown G. C., Shields J. A., Goldberg R. E. Congenital pits of the optic nerve head. II. Clinical studies in humans. Ophthalmology. 1980 Jan;87(1):51–65. doi: 10.1016/s0161-6420(80)35278-0. [DOI] [PubMed] [Google Scholar]
  10. Casey R. J., Garner A. Epibulbar choristoma and microphthalmia: a report of two cases. Br J Ophthalmol. 1991 Apr;75(4):247–250. doi: 10.1136/bjo.75.4.247. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Cennamo G., Sammartino A., Fioretti F. Morning glory syndrome with contractile peripapillary staphyloma. Br J Ophthalmol. 1983 Jun;67(6):346–348. doi: 10.1136/bjo.67.6.346. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Cogan D. G. Coloboma of optic nerve with overlay of peripapillary retina. Br J Ophthalmol. 1978 Jun;62(6):347–350. doi: 10.1136/bjo.62.6.347. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Cook C. S., Sulik K. K. Keratolenticular dysgenesis (Peters' anomaly) as a result of acute embryonic insult during gastrulation. J Pediatr Ophthalmol Strabismus. 1988 Mar-Apr;25(2):60–66. doi: 10.3928/0191-3913-19880301-04. [DOI] [PubMed] [Google Scholar]
  14. Corbett J. J., Savino P. J., Schatz N. J., Orr L. S. Cavitary developmental defects of the optic disc. Visual loss associated with optic pits and colobomas. Arch Neurol. 1980 Apr;37(4):210–213. doi: 10.1001/archneur.1980.00500530048006. [DOI] [PubMed] [Google Scholar]
  15. 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]
  16. Francois J. Colobomatous malformations of the ocular globe. Int Ophthalmol Clin. 1968 Winter;8(4):797–816. [PubMed] [Google Scholar]
  17. GERNET H. ACHSENLAENGE UND REFRAKTION LEBENDER AUGEN VON NEUGEBORENEN. Albrecht Von Graefes Arch Ophthalmol. 1964 Feb 17;166:530–536. [PubMed] [Google Scholar]
  18. Gardner R. J., Morrison P. S., Abbott G. D. A syndrome of congenital thrombocytopenia with multiple malformations and neurologic dysfunction. J Pediatr. 1983 Apr;102(4):600–602. doi: 10.1016/s0022-3476(83)80198-x. [DOI] [PubMed] [Google Scholar]
  19. Ghose S., Singh N. P., Kaur D., Verma I. C. Microphthalmos and anterior segment dysgenesis in a family. Ophthalmic Paediatr Genet. 1991 Dec;12(4):177–182. doi: 10.3109/13816819109025814. [DOI] [PubMed] [Google Scholar]
  20. Goldberg R. E. Optic nerve pit and associated coloboma with serous detachment. Arch Ophthalmol. 1974 Feb;91(2):160–161. doi: 10.1001/archopht.1974.03900060166014. [DOI] [PubMed] [Google Scholar]
  21. Goldberg S. H., Farber M. G., Bullock J. D., Crone K. R., Ball W. S. Bilateral congenital ocular cysts. Ophthalmic Paediatr Genet. 1991 Mar;12(1):31–38. doi: 10.3109/13816819109023082. [DOI] [PubMed] [Google Scholar]
  22. Hoo J. J., Kapp-Simon K., Rollnick B., Chao M. Oculocerebrocutaneous (Delleman) syndrome: a pleiotropic disorder affecting ectodermal tissues with unilateral predominance. Am J Med Genet. 1991 Sep 1;40(3):290–293. doi: 10.1002/ajmg.1320400308. [DOI] [PubMed] [Google Scholar]
  23. Hårch C., Chase H. B., Gonsalves N. I. Studies on an anophthalmic strain of mice. VI. Lens and cup interaction. Dev Biol. 1978 Apr;63(2):352–357. doi: 10.1016/0012-1606(78)90139-2. [DOI] [PubMed] [Google Scholar]
  24. Judisch G. F., Martin-Casals A., Hanson J. W., Olin W. H. Oculodentodigital dysplasia. Four new reports and a literature review. Arch Ophthalmol. 1979 May;97(5):878–884. doi: 10.1001/archopht.1979.01020010436007. [DOI] [PubMed] [Google Scholar]
  25. Kulali A., Rahmanli O. Lateral frontal encephalocele associated with dysplasia of orbit, eyeball, and eyelid. Childs Nerv Syst. 1990 Jan;6(1):54–56. doi: 10.1007/BF00262270. [DOI] [PubMed] [Google Scholar]
  26. Larsen J. S. The sagittal growth of the eye. 1. Ultrasonic measurement of the depth of the anterior chamber from birth to puberty. Acta Ophthalmol (Copenh) 1971;49(2):239–262. doi: 10.1111/j.1755-3768.1971.tb00949.x. [DOI] [PubMed] [Google Scholar]
  27. Larsen J. S. The sagittal growth of the eye. 3. Ultrasonic measurement of the posterior segment (axial length of the vitreous) from birth to puberty. Acta Ophthalmol (Copenh) 1971;49(3):441–453. doi: 10.1111/j.1755-3768.1971.tb00969.x. [DOI] [PubMed] [Google Scholar]
  28. Larsen J. S. The sagittal growth of the eye. II. Ultrasonic measurement of the axial diameter of the lens and the anterior segment from birth to puberty. Acta Ophthalmol (Copenh) 1971;49(3):427–440. doi: 10.1111/j.1755-3768.1971.tb00968.x. [DOI] [PubMed] [Google Scholar]
  29. Lubinsky M. VATER and other associations: historical perspectives and modern interpretations. Am J Med Genet Suppl. 1986;2:9–16. doi: 10.1002/ajmg.1320250603. [DOI] [PubMed] [Google Scholar]
  30. Luyckx J. Mesure des composantes optiques de l'oeil du nouveau-né par échographie ultrasonique. Arch Ophtalmol Rev Gen Ophtalmol. 1966 Mar;26(2):159–170. [PubMed] [Google Scholar]
  31. Mabrouk R., Chadli A., Djedidi H., Cheikh T. B. A propos de 4 cas de kyste orbito palpébral colobomateux: étude clinique, anatomo-pathologique et génétique. Bull Mem Soc Fr Ophtalmol. 1968;81:173–194. [PubMed] [Google Scholar]
  32. Manschot W. A. Morning glory syndrome: a histopathological study. Br J Ophthalmol. 1990 Jan;74(1):56–58. doi: 10.1136/bjo.74.1.56. [DOI] [PMC free article] [PubMed] [Google Scholar]
  33. Maumenee I. H., Mitchell T. N. Colobomatous malformations of the eye. Trans Am Ophthalmol Soc. 1990;88:123–135. [PMC free article] [PubMed] [Google Scholar]
  34. Mayden K. L., Tortora M., Berkowitz R. L., Bracken M., Hobbins J. C. Orbital diameters: a new parameter for prenatal diagnosis and dating. Am J Obstet Gynecol. 1982 Oct 1;144(3):289–297. doi: 10.1016/0002-9378(82)90581-6. [DOI] [PubMed] [Google Scholar]
  35. Merin S., Beyth Y. Uniocular congenital blindness as a complication of midtrimester amniocentesis. Am J Ophthalmol. 1980 Feb;89(2):299–301. doi: 10.1016/0002-9394(80)90128-2. [DOI] [PubMed] [Google Scholar]
  36. Miller M. T., Deutsch T. A., Cronin C., Keys C. L. Amniotic bands as a cause of ocular anomalies. Am J Ophthalmol. 1987 Sep 15;104(3):270–279. doi: 10.1016/0002-9394(87)90416-8. [DOI] [PubMed] [Google Scholar]
  37. Miller M. T. Thalidomide embryopathy: a model for the study of congenital incomitant horizontal strabismus. Trans Am Ophthalmol Soc. 1991;89:623–674. [PMC free article] [PubMed] [Google Scholar]
  38. Mullaney J. Complex sporadic colobomata. Br J Ophthalmol. 1978 Jun;62(6):384–388. doi: 10.1136/bjo.62.6.384. [DOI] [PMC free article] [PubMed] [Google Scholar]
  39. Osborne D. R., Foulks G. N. Computed tomographic analysis of deformity and dimensional changes in the eyeball. Radiology. 1984 Dec;153(3):669–674. doi: 10.1148/radiology.153.3.6494462. [DOI] [PubMed] [Google Scholar]
  40. Pagon R. A. Ocular coloboma. Surv Ophthalmol. 1981 Jan-Feb;25(4):223–236. doi: 10.1016/0039-6257(81)90092-8. [DOI] [PubMed] [Google Scholar]
  41. Pearce W. G. Corneal involvement in autosomal dominant coloboma/microphthalmos. Can J Ophthalmol. 1986 Dec;21(7):291–294. [PubMed] [Google Scholar]
  42. Pedler C. UNUSUAL COLOBOMA OF THE OPTIC NERVE ENTRANCE. Br J Ophthalmol. 1961 Dec;45(12):803–807. doi: 10.1136/bjo.45.12.803. [DOI] [PMC free article] [PubMed] [Google Scholar]
  43. Porges Y., Gershoni-Baruch R., Leibu R., Goldscher D., Zonis S., Shapira I., Miller B. Hereditary microphthalmia with colobomatous cyst. Am J Ophthalmol. 1992 Jul 15;114(1):30–34. doi: 10.1016/s0002-9394(14)77409-4. [DOI] [PubMed] [Google Scholar]
  44. Ryan E. A., Zwaan J., Chylack L. T., Jr Nanophthalmos with uveal effusion: clinical and embryologic considerations. Ophthalmology. 1982 Sep;89(9):1013–1017. doi: 10.1016/s0161-6420(82)34686-2. [DOI] [PubMed] [Google Scholar]
  45. Salonen R. The Meckel syndrome: clinicopathological findings in 67 patients. Am J Med Genet. 1984 Aug;18(4):671–689. doi: 10.1002/ajmg.1320180414. [DOI] [PubMed] [Google Scholar]
  46. Simmons J. D., LaMasters D., Char D. Computed tomography of ocular colobomas. AJR Am J Roentgenol. 1983 Dec;141(6):1223–1226. doi: 10.2214/ajr.141.6.1223. [DOI] [PubMed] [Google Scholar]
  47. Singh O. S., Simmons R. J., Brockhurst R. J., Trempe C. L. Nanophthalmos: a perspective on identification and therapy. Ophthalmology. 1982 Sep;89(9):1006–1012. [PubMed] [Google Scholar]
  48. Slamovits T. L., Kimball G. P., Friberg T. R., Curtin H. D. Bilateral optic disc colobomas with orbital cysts and hypoplastic optic nerves and chiasm. J Clin Neuroophthalmol. 1989 Sep;9(3):172–177. [PubMed] [Google Scholar]
  49. Small optic discs. Br J Ophthalmol. 1978 Jan;62(1):1–2. doi: 10.1136/bjo.62.1.1. [DOI] [PMC free article] [PubMed] [Google Scholar]
  50. Smithells R. W., Newman C. G. Recognition of thalidomide defects. J Med Genet. 1992 Oct;29(10):716–723. doi: 10.1136/jmg.29.10.716. [DOI] [PMC free article] [PubMed] [Google Scholar]
  51. Spranger J., Benirschke K., Hall J. G., Lenz W., Lowry R. B., Opitz J. M., Pinsky L., Schwarzacher H. G., Smith D. W. Errors of morphogenesis: concepts and terms. Recommendations of an international working group. J Pediatr. 1982 Jan;100(1):160–165. doi: 10.1016/s0022-3476(82)80261-8. [DOI] [PubMed] [Google Scholar]
  52. Stoll C., Alembik Y., Dott B., Roth M. P. Epidemiology of congenital eye malformations in 131,760 consecutive births. Ophthalmic Paediatr Genet. 1992 Sep;13(3):179–186. doi: 10.3109/13816819209046487. [DOI] [PubMed] [Google Scholar]
  53. Strömland K., Miller M., Cook C. Ocular teratology. Surv Ophthalmol. 1991 May-Jun;35(6):429–446. doi: 10.1016/0039-6257(91)90107-q. [DOI] [PubMed] [Google Scholar]
  54. Strömland K. Ocular involvement in the fetal alcohol syndrome. Surv Ophthalmol. 1987 Jan-Feb;31(4):277–284. doi: 10.1016/0039-6257(87)90028-2. [DOI] [PubMed] [Google Scholar]
  55. Sugar H. S. Congenital pits in the optic disc and their equivalents (congenital colobomas and colobomalike excavations) associated with submacular fluid. Am J Ophthalmol. 1967 Feb;63(2):298–307. [PubMed] [Google Scholar]
  56. Temple I. K., MacDowall P., Baraitser M., Atherton D. J. Focal dermal hypoplasia (Goltz syndrome). J Med Genet. 1990 Mar;27(3):180–187. doi: 10.1136/jmg.27.3.180. [DOI] [PMC free article] [PubMed] [Google Scholar]
  57. Tsur H., Winkler E., Kessler A. Oblique facial cleft with anophthalmia in a mentally normal child. Ann Plast Surg. 1991 May;26(5):449–455. doi: 10.1097/00000637-199105000-00007. [DOI] [PubMed] [Google Scholar]
  58. Wallis C. E., Beighton P. Ectodermal dysplasia with blindness in sibs on the island of Rodrigues. J Med Genet. 1992 May;29(5):323–325. doi: 10.1136/jmg.29.5.323. [DOI] [PMC free article] [PubMed] [Google Scholar]
  59. Walpole I. R., Hockey A., Nicoll A. The Nance-Horan syndrome. J Med Genet. 1990 Oct;27(10):632–634. doi: 10.1136/jmg.27.10.632. [DOI] [PMC free article] [PubMed] [Google Scholar]
  60. Warburg M. An update on microphthalmos and coloboma. A brief survey of genetic disorders with microphthalmos and coloboma. Ophthalmic Paediatr Genet. 1991 Jun;12(2):57–63. doi: 10.3109/13816819109023675. [DOI] [PubMed] [Google Scholar]
  61. Warburg M., Friedrich U. Coloboma and microphthalmos in chromosomal aberrations. Chromosomal aberrations and neural crest cell developmental field. Ophthalmic Paediatr Genet. 1987 Jun;8(2):105–118. doi: 10.3109/13816818709028526. [DOI] [PubMed] [Google Scholar]
  62. Weiss A. H., Kousseff B. G., Ross E. A., Longbottom J. Complex microphthalmos. Arch Ophthalmol. 1989 Nov;107(11):1619–1624. doi: 10.1001/archopht.1989.01070020697031. [DOI] [PubMed] [Google Scholar]
  63. Weiss A. H., Kousseff B. G., Ross E. A., Longbottom J. Simple microphthalmos. Arch Ophthalmol. 1989 Nov;107(11):1625–1630. doi: 10.1001/archopht.1989.01070020703032. [DOI] [PubMed] [Google Scholar]
  64. Weiss A., Martinez C., Greenwald M. Microphthalmos with cyst: clinical presentations and computed tomographic findings. J Pediatr Ophthalmol Strabismus. 1985 Jan-Feb;22(1):6–12. doi: 10.3928/0191-3913-19850101-04. [DOI] [PubMed] [Google Scholar]
  65. Wright D. C., Yuh W. T., Thompson H. S., Nerad J. A. Bilateral microphthalmos with orbital cysts: MR findings. J Comput Assist Tomogr. 1987 Jul-Aug;11(4):727–729. doi: 10.1097/00004728-198707000-00038. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES