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J Med Genet. 1993 August; 30(8): 664–669.
PMCID: PMC1016495

Classification of microphthalmos and coloboma.


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.

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  • Stoll C, Alembik Y, Dott B, Roth MP. Epidemiology of congenital eye malformations in 131,760 consecutive births. Ophthalmic Paediatr Genet. 1992 Sep;13(3):179–186. [PubMed]
  • Blomdahl S. Ultrasonic measurements of the eye in the newborn infant. Acta Ophthalmol (Copenh) 1979;57(6):1048–1056. [PubMed]
  • Judisch GF, Martin-Casals A, Hanson JW, Olin WH. Oculodentodigital dysplasia. Four new reports and a literature review. Arch Ophthalmol. 1979 May;97(5):878–884. [PubMed]
  • Small optic discs. Br J Ophthalmol. 1978 Jan;62(1):1–2. [PMC free article] [PubMed]
  • Bateman JB, Maumenee IH. Colobomatous macrophthalmia with microcornea. Ophthalmic Paediatr Genet. 1984 Aug;4(2):59–66. [PubMed]
  • Weiss AH, Kousseff BG, Ross EA, Longbottom J. Complex microphthalmos. Arch Ophthalmol. 1989 Nov;107(11):1619–1624. [PubMed]
  • Mayden KL, Tortora M, Berkowitz RL, Bracken M, Hobbins JC. Orbital diameters: a new parameter for prenatal diagnosis and dating. Am J Obstet Gynecol. 1982 Oct 1;144(3):289–297. [PubMed]
  • 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]
  • Larsen JS. 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. [PubMed]
  • Larsen JS. 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. [PubMed]
  • Larsen JS. 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. [PubMed]
  • GERNET H. ACHSENLAENGE UND REFRAKTION LEBENDER AUGEN VON NEUGEBORENEN. Albrecht Von Graefes Arch Ophthalmol. 1964 Feb 17;166:530–536. [PubMed]
  • 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]
  • Weiss AH, Kousseff BG, Ross EA, Longbottom J. Simple microphthalmos. Arch Ophthalmol. 1989 Nov;107(11):1625–1630. [PubMed]
  • Goldberg SH, Farber MG, Bullock JD, Crone KR, Ball WS. Bilateral congenital ocular cysts. Ophthalmic Paediatr Genet. 1991 Mar;12(1):31–38. [PubMed]
  • 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. [PubMed]
  • Berry FD. A modified tissue expander for socket enlargement in clinical anophthalmos. Ophthal Plast Reconstr Surg. 1991;7(1):41–47. [PubMed]
  • Singh OS, Simmons RJ, Brockhurst RJ, Trempe CL. Nanophthalmos: a perspective on identification and therapy. Ophthalmology. 1982 Sep;89(9):1006–1012. [PubMed]
  • Ryan EA, Zwaan J, Chylack LT., Jr Nanophthalmos with uveal effusion: clinical and embryologic considerations. Ophthalmology. 1982 Sep;89(9):1013–1017. [PubMed]
  • Hårch C, Chase HB, Gonsalves NI. Studies on an anophthalmic strain of mice. VI. Lens and cup interaction. Dev Biol. 1978 Apr;63(2):352–357. [PubMed]
  • Walpole IR, Hockey A, Nicoll A. The Nance-Horan syndrome. J Med Genet. 1990 Oct;27(10):632–634. [PMC free article] [PubMed]
  • Cook CS, Sulik KK. Keratolenticular dysgenesis (Peters' anomaly) as a result of acute embryonic insult during gastrulation. J Pediatr Ophthalmol Strabismus. 1988 Mar-Apr;25(2):60–66. [PubMed]
  • Ghose S, Singh NP, Kaur D, Verma IC. Microphthalmos and anterior segment dysgenesis in a family. Ophthalmic Paediatr Genet. 1991 Dec;12(4):177–182. [PubMed]
  • Wallis CE, Beighton P. Ectodermal dysplasia with blindness in sibs on the island of Rodrigues. J Med Genet. 1992 May;29(5):323–325. [PMC free article] [PubMed]
  • Osborne DR, Foulks GN. Computed tomographic analysis of deformity and dimensional changes in the eyeball. Radiology. 1984 Dec;153(3):669–674. [PubMed]
  • 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. [PubMed]
  • Hoo JJ, 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. [PubMed]
  • Gardner RJ, Morrison PS, Abbott GD. A syndrome of congenital thrombocytopenia with multiple malformations and neurologic dysfunction. J Pediatr. 1983 Apr;102(4):600–602. [PubMed]
  • Simmons JD, LaMasters D, Char D. Computed tomography of ocular colobomas. AJR Am J Roentgenol. 1983 Dec;141(6):1223–1226. [PubMed]
  • Wright DC, Yuh WT, Thompson HS, Nerad JA. Bilateral microphthalmos with orbital cysts: MR findings. J Comput Assist Tomogr. 1987 Jul-Aug;11(4):727–729. [PubMed]
  • Slamovits TL, Kimball GP, Friberg TR, Curtin HD. Bilateral optic disc colobomas with orbital cysts and hypoplastic optic nerves and chiasm. J Clin Neuroophthalmol. 1989 Sep;9(3):172–177. [PubMed]
  • Francois J. Colobomatous malformations of the ocular globe. Int Ophthalmol Clin. 1968 Winter;8(4):797–816. [PubMed]
  • Maumenee IH, Mitchell TN. Colobomatous malformations of the eye. Trans Am Ophthalmol Soc. 1990;88:123–135. [PMC free article] [PubMed]
  • Mullaney J. Complex sporadic colobomata. Br J Ophthalmol. 1978 Jun;62(6):384–388. [PMC free article] [PubMed]
  • Pagon RA. Ocular coloboma. Surv Ophthalmol. 1981 Jan-Feb;25(4):223–236. [PubMed]
  • Sugar HS. 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]
  • Goldberg RE. Optic nerve pit and associated coloboma with serous detachment. Arch Ophthalmol. 1974 Feb;91(2):160–161. [PubMed]
  • Corbett JJ, Savino PJ, Schatz NJ, Orr LS. Cavitary developmental defects of the optic disc. Visual loss associated with optic pits and colobomas. Arch Neurol. 1980 Apr;37(4):210–213. [PubMed]
  • Thurman RG, Yuki T, Bleyman MA, Wendell G. The adaptive increase in ethanol metabolism due to pretreatment with ethanol: a rapid phenomenon. Drug Alcohol Depend. 1979 Jan-Mar;4(1-2):119–129. [PMC free article] [PubMed]
  • Cogan DG. Coloboma of optic nerve with overlay of peripapillary retina. Br J Ophthalmol. 1978 Jun;62(6):347–350. [PMC free article] [PubMed]
  • Cennamo G, Sammartino A, Fioretti F. Morning glory syndrome with contractile peripapillary staphyloma. Br J Ophthalmol. 1983 Jun;67(6):346–348. [PMC free article] [PubMed]
  • Apple DJ. New aspects of colobomas and optic nerve anomalies. Int Ophthalmol Clin. 1984 Spring;24(1):109–121. [PubMed]
  • Brown GC, Shields JA, Goldberg RE. Congenital pits of the optic nerve head. II. Clinical studies in humans. Ophthalmology. 1980 Jan;87(1):51–65. [PubMed]
  • Manschot WA. Morning glory syndrome: a histopathological study. Br J Ophthalmol. 1990 Jan;74(1):56–58. [PMC free article] [PubMed]
  • 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. [PubMed]
  • Spranger J, Benirschke K, Hall JG, Lenz W, Lowry RB, Opitz JM, Pinsky L, Schwarzacher HG, Smith DW. Errors of morphogenesis: concepts and terms. Recommendations of an international working group. J Pediatr. 1982 Jan;100(1):160–165. [PubMed]
  • Pearce WG. Corneal involvement in autosomal dominant coloboma/microphthalmos. Can J Ophthalmol. 1986 Dec;21(7):291–294. [PubMed]
  • Bernuzzi V, Desor D, Lehr PR. Developmental alternations in offspring of female rats orally intoxicated by aluminum chloride or lactate during gestation. Teratology. 1989 Jul;40(1):21–27. [PubMed]
  • Temple IK, MacDowall P, Baraitser M, Atherton DJ. Focal dermal hypoplasia (Goltz syndrome). J Med Genet. 1990 Mar;27(3):180–187. [PMC free article] [PubMed]
  • Salonen R. The Meckel syndrome: clinicopathological findings in 67 patients. Am J Med Genet. 1984 Aug;18(4):671–689. [PubMed]
  • 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. [PubMed]
  • Strömland K. Ocular involvement in the fetal alcohol syndrome. Surv Ophthalmol. 1987 Jan-Feb;31(4):277–284. [PubMed]
  • Miller MT. Thalidomide embryopathy: a model for the study of congenital incomitant horizontal strabismus. Trans Am Ophthalmol Soc. 1991;89:623–674. [PMC free article] [PubMed]
  • Smithells RW, Newman CG. Recognition of thalidomide defects. J Med Genet. 1992 Oct;29(10):716–723. [PMC free article] [PubMed]
  • Benke PJ. The isotretinoin teratogen syndrome. JAMA. 1984 Jun 22;251(24):3267–3269. [PubMed]
  • Strömland K, Miller M, Cook C. Ocular teratology. Surv Ophthalmol. 1991 May-Jun;35(6):429–446. [PubMed]
  • Merin S, Beyth Y. Uniocular congenital blindness as a complication of midtrimester amniocentesis. Am J Ophthalmol. 1980 Feb;89(2):299–301. [PubMed]
  • Casey RJ, Garner A. Epibulbar choristoma and microphthalmia: a report of two cases. Br J Ophthalmol. 1991 Apr;75(4):247–250. [PMC free article] [PubMed]
  • Kulali A, Rahmanli O. Lateral frontal encephalocele associated with dysplasia of orbit, eyeball, and eyelid. Childs Nerv Syst. 1990 Jan;6(1):54–56. [PubMed]
  • Miller MT, Deutsch TA, Cronin C, Keys CL. Amniotic bands as a cause of ocular anomalies. Am J Ophthalmol. 1987 Sep 15;104(3):270–279. [PubMed]
  • 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. [PubMed]
  • Lubinsky M. VATER and other associations: historical perspectives and modern interpretations. Am J Med Genet Suppl. 1986;2:9–16. [PubMed]
  • Baumann W, Greinacher I, Emmrich P, Spranger J. VATER- oder VACTERL-Syndrom. Klin Padiatr. 1976 Jul;188(4):328–337. [PubMed]
  • Davenport SL, Hefner MA, Mitchell JA. The spectrum of clinical features in CHARGE syndrome. Clin Genet. 1986 Apr;29(4):298–310. [PubMed]
  • Mabrouk R, Chadli A, Djedidi H, Cheikh TB. 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]

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