Genetics in Oculoplastics

  • Kristina Yi-Hwa Pao
  • Alex V. Levin


With advancing technology, ocular genetics is a constantly evolving and expanding field. Human DNA is comprised of approximately 30,000 genes. Genetic etiology is implicated in nearly half of all childhood blindness [1]. Ocular genetics allows ophthalmologists to diagnose and treat patients, identify surveillance strategies for associated findings, clarify prognosis, and provide families with genetic counseling and disease-specific support.


Plexiform Neurofibroma Optic Nerve Hypoplasia Apert Syndrome Nasolacrimal Duct Obstruction Chronic Progressive External Ophthalmoplegia 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. 1.
    Wygnanski-Jaffe T, Levin AV. Introductory genetics for the ophthalmologist. Focal Points. 2005;23:1–11.Google Scholar
  2. 2.
    Forrester MB, Merz RD. Descriptive epidemiology of anophthalmia and microphthalmia, Hawaii, 1986–2001. Birth Defects Res A Clin Mol Teratol. 2006;76(3):187–92.PubMedCrossRefGoogle Scholar
  3. 3.
    Verma AS, FitzPatrick DR. Anophthalmia and microphthalmia. Orphanet J Rare Dis. 2007;2:47.PubMedCentralPubMedCrossRefGoogle Scholar
  4. 4.
    Levin AV. Congenital eye anomalies. Pediatr Clin North Am. 2003;50:55–76.PubMedCrossRefGoogle Scholar
  5. 5.
    Morax S, Hurbli T. The management of congenital malpositions of eyelids, eyes and orbits. Eye. 1988;2:207–19.PubMedCrossRefGoogle Scholar
  6. 6.
    Slavotinek AM, Tifft CJ. Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. J Med Genet. 2002;39:623–33.PubMedCentralPubMedCrossRefGoogle Scholar
  7. 7.
    Nouby G. Congenital upper eyelid coloboma and cryptophthalmos. Ophthalmic Plast Reconstr Surg. 2002;18:373–7.CrossRefGoogle Scholar
  8. 8.
    Vendramini-Pittoli S, Kokitsu-Nakata NM. Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature. Clin Dysmorphol. 2009;18:67–77.PubMedCrossRefGoogle Scholar
  9. 9.
    Grover AK, Chaudhuri Z, Malik S, et al. Congenital eyelid colobomas in 51 patients. J Pediatr Ophthalmol Strabismus. 2009;46:151–9.PubMedCrossRefGoogle Scholar
  10. 10.
    Seah LL, Choo CT, Fong KS. Congenital upper lid colobomas management and visual outcome. Ophthalmic Plast Reconstr Surg. 2002;18:190–5.CrossRefGoogle Scholar
  11. 11.
    Patil BB, Bell R, Brice G, et al. Distichiasis without lymphedema? Eye. 2004;18:1270–8.PubMedCrossRefGoogle Scholar
  12. 12.
    Hoover RE, Kelley JS. Distichiasis and lymphedema; a hereditary syndrome with possible multiple defects: a report of a family. Trans Am Ophthalmol Soc. 1971;69:293–306.PubMedCentralPubMedGoogle Scholar
  13. 13.
    Shammas HF, Tabbara DK, Der Kaloustian VM. Atypical serum cholinesterase in a family with congenital distichiasis. J Med Genet. 1976;13:514–5.PubMedCentralPubMedCrossRefGoogle Scholar
  14. 14.
    Brooks BP, Dagenais SL, Nelson CC, et al. Mutation of FOXC2 gene in familial distichiasis. J AAPOS. 2003;7:354–7.PubMedCrossRefGoogle Scholar
  15. 15.
    Hintschich C. Correction of entropion and actropion. Dev Ophthalmol. 2008;41:85–102.PubMedCrossRefGoogle Scholar
  16. 16.
    Harvey HB, Shaw MG, Morrell DS. Perinatal management of herlequin ichthyosis: a case report and literature review. J Perinatol. 2010;30:66–72.PubMedCrossRefGoogle Scholar
  17. 17.
    Al-Hussain H, Al-Rajhi AA, Al-Qahtani S, et al. Congenital upper eyelid eversion ocomplicated by corneal perforation. Br J Ophthalmol. 2005;89:771.PubMedCentralPubMedCrossRefGoogle Scholar
  18. 18.
    Young RJ. Congenital ectropion of the upper lids. Arch Dis Child. 1954;29:97–100.PubMedCentralPubMedCrossRefGoogle Scholar
  19. 19.
    Keipert JA. Euryblepharon. Br J Ophthalmol. 1975;59:57–8.PubMedCentralPubMedCrossRefGoogle Scholar
  20. 20.
    Guercio JR, Martyn LJ. Congenital malformations of the eye and orbit. Otolaryngol Clin North Am. 2007;40:113–40.PubMedCrossRefGoogle Scholar
  21. 21.
    Yen MT, Lucci LM, Anderson RL. Management of eyelid anomalies associated with belpharo-cheilo-dontic syndrome. Am J Ophthalmol. 2001;132:279–80.PubMedCrossRefGoogle Scholar
  22. 22.
    Jordan DR, Anderson RL. Epicanthal folds: a deep tissue approach. Arch Ophthalmol. 1989;107:1532–5.PubMedCrossRefGoogle Scholar
  23. 23.
    Mansour AM, Barber JC, Reinecke RD, Wang FM. Ocular choristomas. Surv Ophthalmol. 1989;33:339–58.PubMedCrossRefGoogle Scholar
  24. 24.
    Sugarman JL. Epidermal nevus syndrome. Semin Cutan Med Surg. 2007;26:221–30.PubMedCrossRefGoogle Scholar
  25. 25.
    Lees M, Taylor D, Atherton D, Reardon W. Oculo-ectodermal syndrome: report of two further cases. Am J Med Genet. 2000;91:391–5.PubMedCrossRefGoogle Scholar
  26. 26.
    Gunduz K, Shields CL, Doych Y, Schnall B, Shields JA. Ocular ectodermal syndrome of epibulbar dermoid and cutaneous myxocapsular hamartoma. Br J Ophthalmol. 2000;84:669–70.PubMedCrossRefGoogle Scholar
  27. 27.
    Moog U. Encephalocraniocutaneous lipomatosis. J Med Genet. 2009;46:721–9.PubMedCrossRefGoogle Scholar
  28. 28.
    Bardenstein DS, McLean IW, Nerney J, Boatwright RS. Cowden’s disease. Ophthalmology. 1988;95:1038–41.PubMedCrossRefGoogle Scholar
  29. 29.
    De Becker I, Gajda DJ, Gilbert-Barness E, Cohen Jr MM. Ocular manifestations in proteus syndrome. Am J Med Genet. 2000;92:350–2.PubMedCrossRefGoogle Scholar
  30. 30.
    Cambiaghi S, Levet PS, Guala G, et al. Delleman syndrome: report of a case with a mild phenotype. Eur J Dermatol. 2000;10:623–6.PubMedGoogle Scholar
  31. 31.
    Padmanabhan R. Etiology, pathogenesis and prevention of neural tube defects. Congenit Anom. 2006;46:55–67.CrossRefGoogle Scholar
  32. 32.
    Bersani TA, Cecchi LM. Resection of anterior orbital meningoencephalocele in a newborn infant. Ophthalmic Plast Reconstr Surg. 2006;22:391–3.CrossRefGoogle Scholar
  33. 33.
    David DJ, Sheffield L, Simpson D, White J. Fronto-ethmoidal meningoencephaloceles: morphology and treatment. Br J Plast Surg. 1984;37:271–84.PubMedCrossRefGoogle Scholar
  34. 34.
    Agthong S, Wiwanitkit V. Encephalomeningocele cases over 10 years in Thailand: a case series. BMC Neurol. 2002;2:3–7.PubMedCentralPubMedCrossRefGoogle Scholar
  35. 35.
    Songur E, Mutluer S, Gurler T, et al. Management of frontoethmoidal (sincipital) encephalocele. J Craniofac Surg. 1999;10:135–9.PubMedCrossRefGoogle Scholar
  36. 36.
    Wu E, Vargevik K, Slovetinek AM. Subtypes of frontonasal dysplasia are useful in determining clinical prognosis. Am J Med Genet. 2007;Part A, 143A:3069–78.CrossRefGoogle Scholar
  37. 37.
    Chaabouni M, Maazoul F, Hamida AB, et al. Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies: a third case report. Am J Med Genet A. 2008;146A:1825–7.PubMedCrossRefGoogle Scholar
  38. 38.
    Fries PD, Katowitz JA. Congenital craniofacial anomalies of ophthalmic importance. Surv Ophthalmol. 1990;25:87–119.CrossRefGoogle Scholar
  39. 39.
    Gray TL, Casey T, Selva D, Anderson PJ, David DJ. Ophthalmic sequelae of Crouzon syndrome. Ophthalmology. 2005;12:1129–34.CrossRefGoogle Scholar
  40. 40.
    Trainor PA, Dixon J, Dixon MJ. Treacher Collins syndrome: etiology, pathogenesis and prevention. Eur J Hum Genet. 2009;17:275–83.PubMedCentralPubMedCrossRefGoogle Scholar
  41. 41.
    Nallasamy S, Kherani F, Yaeger D, et al. Ophthalmologic findings in Cornealia de Lange syndrome: a genotype-phenotype correlation study. Arch Ophthalmol. 2006;124:552–7.PubMedCrossRefGoogle Scholar
  42. 42.
    Levin AV, Seidman DJ, Nelson LB, Jackson LG. Ophthalmologic findings in the Cornelia de Lange syndrome. J Pediatr Ophthalmol Strabismus. 1990;27:94–102.PubMedGoogle Scholar
  43. 43.
    Wygnanski-Jaffe T, Shin J, Perruzza E, Abdolell M, Jackson LG, Levin AV. Ophthalmologic findings in the Cornelia de Lange syndrome. J AAPOS. 2005;9(5):407–15.PubMedCrossRefGoogle Scholar
  44. 44.
    Van der Burgt I. Noonan syndrome. Orphanet J Rare Dis. 2007;2:4–9.PubMedCentralPubMedCrossRefGoogle Scholar
  45. 45.
    Allen CE, Rubin PA. Blepharophimosis-ptosis-epicanthus inversus syndrome: clinical manifestation and treatment. Int Ophthalmol Clin. 2008;48:15–23.PubMedCrossRefGoogle Scholar
  46. 46.
    Flaherty MP, Balachandran C, Jamieson R, Engle EC. Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata. Ophthalmic Genet. 2009;20:91–5.CrossRefGoogle Scholar
  47. 47.
    Lee AG, Brazis PW. Chronic progressive external ophthalmoplegia. Curr Neurol Neurosci Rep. 2002;2:413–7.PubMedCrossRefGoogle Scholar
  48. 48.
    Park SB, Ma KT, Kook KH, Lee SY. Kearns-Sayre syndrome: 3 case reports and review of clinical features. Yonsei Med J. 2004;45:727–35.PubMedGoogle Scholar
  49. 49.
    Calhoun JH. Problems of the lacrimal system in children. Pediatr Ophthalmol. 1987;34:1457–65.Google Scholar
  50. 50.
    Axelrod FB, Hilz MJ. Inherited autonomic neuropathies. Semin Neurol. 2003;23:381–90.PubMedCrossRefGoogle Scholar
  51. 51.
    Liebman SD. Riley-Day syndrome: long-term ophthalmologic observations. Trans Am Ophthalmol Soc. 1968;66:95–116.PubMedCentralPubMedGoogle Scholar
  52. 52.
    Cheung JC, Thomson H, Buncic JR, Heon E, Levin AV. Ocular manifestations of the Johanson-Blizzard syndrome. J AAPOS. 2009;13:512–4.PubMedCrossRefGoogle Scholar
  53. 53.
    Lehotay M, Kunkel M, Wehrbein H. Lacrimo-auriculo-dento-digital syndrome. J Orofac Orthop. 2004;65:425–32.PubMedCrossRefGoogle Scholar
  54. 54.
    MacDonald IM, Bech-Hansen T, Britton WA, et al. The phakomatoses: recent advances in genetics. Can J Ophthalmol. 1997;32:4–11.PubMedGoogle Scholar
  55. 55.
    Ragge NK, Baser ME, Kelin J, et al. Ocular abnormalities in neurofibromatosis 2. Am J Ophthalmol. 1995;120:634–41.PubMedGoogle Scholar
  56. 56.
    Leroy BP, Carton D, De Laey JJ. Ophthalmological signs of tuberous sclerosis. Soc Belge Dophtalmologie. 1996;262:115–21.Google Scholar

Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  1. 1.Department of Ophthalmology, Wills Eye InstituteThomas Jefferson University HospitalPhiladelphiaUSA
  2. 2.Pediatric Ophthalmology & Ocular GeneticsWills Eye InstitutePhiladelphiaUSA

Personalised recommendations