Anophthalmos

Author: Nick Mamalis, MD; Chief Editor: Hampton Roy Sr, MD more...

Updated: Apr 17, 2012

What would you like to print?

Background
Pathophysiology
Epidemiology
Show All

Background

True or primary anophthalmos is very rare. Only when there is a complete absence of the ocular tissue within the orbit can a diagnosis of true anophthalmos be made. Extreme microphthalmos is seen more commonly. In this condition, a very small globe is present within the orbital soft tissue, which is not visible on initial examination.

Anophthalmia and microphthalmia may occur secondary to the arrest of development of the eye at various stages of growth of the optic vesicle. It is important to recognize microphthalmia because the development of the orbital region, as well as the lids and the fornices, is dependent on the presence of a normal-sized eye in utero.

Anophthalmia may lead to serious problems in a child due to not only the absence of a seeing eye but also the secondary disfigurement of the orbit, the lids, and the eye socket. Early treatment with various expanders or surgery, when necessary, will help decrease the orbital asymmetry and cosmetic deformities in these children.

See the clinical images below:

Anophthalmic socket (left eye).

Close-up view of anophthalmic socket (left eye).

Pathophysiology

Anophthalmia occurs when the neuroectoderm of the primary optic vesicle fails to develop properly from the anterior neural plate of the neural tube during embryological development. The more commonly seen microphthalmia can result from a problem in development of the globe at any stage of growth of the optic vesicle.

Proper growth of the orbital region is dependent on the presence of an eye, which stimulates growth of the orbit and proper formation of the lids and the ocular fornices. Commonly, a child born with anophthalmia has a small orbit with narrow palpebral fissure and shrunken fornices.

Frequency

United States

Congenital anophthalmos is a very rare condition that has a reported prevalence rate of 0.18 per 10,000 births.^[1]

International

European rates are similar to those seen in the United States and have been reported as 0.19 case per 10,000 births.^[2]

Mortality/Morbidity

Growth and development of the bony orbit is directly dependent on outgrowth of the globe.
Lack of an eye or a microphthalmic eye causes improper development of the orbit.
A small bony orbit results in hemifacial hypoplasia and will not allow a prosthesis to be fit. The cosmetic deformity can be quite significant.

Race

Classically, racial predilection for anophthalmos has not been reported; however, recent studies have shown an elevated prevalence in some ethnic groups. These groups include Pakistani and Scottish children. Genetic, environmental, and possible classification issues may explain these high rates of disease and need to be explored further.^[3]

Sex

Sexual predilection for congenital anophthalmos has not been reported.

Age

Anophthalmos occurs in utero and is a congenital anomaly that is present at birth.

Proceed to Clinical Presentation

Contributor Information and Disclosures

Author

Nick Mamalis, MD Professor, Director of Ophthalmic Pathology, Department of Ophthalmology, University of Utah School of Medicine; Director of Intermountain Ocular Research Center

Nick Mamalis, MD is a member of the following medical societies: American Academy of Ophthalmology, American Medical Association, and American Society of Cataract and Refractive Surgery

Disclosure: Medennium Consulting fee Board membership; Alcon Grant/research funds Independent contractor; Allergan Grant/research funds Independent contractor; AMO Grant/research funds Independent contractor; Bausch& Lomb Grant/research funds Independent contractor; Calhoun Grant/research funds Independent contractor; Anew Optics, Inc. Board membership; MBI Grant/research funds Board membership; Optimedica None Board membership

Coauthor(s)

Andrew James Ollerton, MD Pre-residency Fellow, Ocular Pathology, Moran Eye Center, University of Utah

Andrew James Ollerton, MD is a member of the following medical societies: American Society of Cataract and Refractive Surgery

Disclosure: Nothing to disclose.

Specialty Editor Board

Ron W Pelton, MD, PhD Private Practice, Colorado Springs, Colorado

Ron W Pelton, MD, PhD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, American Society of Ophthalmic Plastic and Reconstructive Surgery, AO Foundation, and Colorado Medical Society

Disclosure: Nothing to disclose.

Simon K Law, MD, PharmD Associate Professor of Ophthalmology, Jules Stein Eye Institute, University of California, Los Angeles, David Geffen School of Medicine

Simon K Law, MD, PharmD is a member of the following medical societies: American Academy of Ophthalmology, American Glaucoma Society, and Association for Research in Vision and Ophthalmology

Disclosure: Nothing to disclose.

Mark T Duffy, MD, PhD Consulting Staff, Division of Oculoplastic, Orbito-facial, Lacrimal and Reconstructive Surgery, Green Bay Eye Clinic, BayCare Clinic; Medical Director, Advanced Cosmetic Solutions, A BayCare Clinic

Mark T Duffy, MD, PhD is a member of the following medical societies: American Academy of Ophthalmology, American Medical Association, American Society of Ophthalmic Plastic and Reconstructive Surgery, Sigma Xi, and Society for Neuroscience

Disclosure: Allergan - Botox Cosmetic Honoraria Speaking and teaching

Lance L Brown, OD, MD Ophthalmologist, Affiliated With Freeman Hospital and St John's Hospital, Regional Eye Center, Joplin, Missouri

Disclosure: Nothing to disclose.

Chief Editor

Hampton Roy Sr, MD Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences

Hampton Roy Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, and Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

References

Shaw GM, Carmichael SL, Yang W, Harris JA, Finnell RH, Lammer EJ. Epidemiologic characteristics of anophthalmia and bilateral microphthalmia among 2.5 million births in California, 1989-1997. Am J Med Genet A. Aug 15 2005;137(1):36-40. [Medline].
Boyd PA, Haeusler M, Barisic I. EUROCAT Report 9: Surveillance of congenital anomalies in Europe 1980-2008. Birth Defects Res A Clin Mol Teratol. Mar 2011;91 Suppl 1:S1. [Medline].
Shah SP, Taylor AE, Sowden JC, Ragge NK, Russell-Eggitt I, Rahi JS. Anophthalmos, microphthalmos, and typical coloboma in the United Kingdom: a prospective study of incidence and risk. Invest Ophthalmol Vis Sci. Jan 2011;52(1):558-64. [Medline].
Roy FH, ed. Ocular Differential Diagnosis. 6^th ed. Baltimore, MD: Lippincott, Williams & Wilkins; 1997:263.
Kennedy RE. The effect of early enucleation on the orbit; in animals and humans. Am J Ophthalmol. Aug 1965;60:277-306. [Medline].
Putterman AM. Ocular socket problems. In: Waltman SR, Keates RH, Hoyt CS, eds. Surgery of the Eye. New York: Churchill Livingston; 1988:749-758.
Ahmad ME, Dada R, Dada T, Kucheria K. 14q(22) deletion in a familial case of anophthalmia with polydactyly. Am J Med Genet A. Jul 1 2003;120(1):117-22. [Medline].
Hoover-Fong JE, Cai J, Cargile CB, Thomas GH, Patel A, Griffin CA. Facial dysgenesis: a novel facial syndrome with chromosome 7 deletion p15.1-21.1. Am J Med Genet A. Feb 15 2003;117A(1):47-56. [Medline].
Bakrania P, Robinson DO, Bunyan DJ, et al. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. Br J Ophthalmol. Nov 2007;91(11):1471-6. [Medline].
Bardakjian TM, Schneider A. The genetics of anophthalmia and microphthalmia. Curr Opin Ophthalmol. Sep 2011;22(5):309-13. [Medline].
Albernaz VS, Castillo M, Hudgins PA, Mukherji SK. Imaging findings in patients with clinical anophthalmos. AJNR Am J Neuroradiol. Mar 1997;18(3):555-61. [Medline].
Marchac D, Cophignon J, Achard E, Dufourmentel C. Orbital expansion for anophthalmia and micro-orbitism. Plast Reconstr Surg. Apr 1977;59(4):486-91. [Medline].
Mustarde JE. The orbital rim. In: Mustarde JC, Jancsous IT, eds. Plastic Surgery in Infancy and Children. Edinburgh: Churchill Livingston; 1988:150-155.
Tucker SM, Sapp N, Collin R. Orbital expansion of the congenitally anophthalmic socket. Br J Ophthalmol. Jul 1995;79(7):667-71. [Medline].
Krastinova D, Kelly MB, Mihaylova M. Surgical management of the anophthalmic orbit, part 1: congenital. Plast Reconstr Surg. Sep 15 2001;108(4):817-26. [Medline].
Quaranta-Leoni FM. Treatment of the anophthalmic socket. Curr Opin Ophthalmol. Sep 2008;19(5):422-7. [Medline].
Gundlach KK, Guthoff RF, Hingst VH, Schittkowski MP, Bier UC. Expansion of the socket and orbit for congenital clinical anophthalmia. Plast Reconstr Surg. Oct 2005;116(5):1214-22. [Medline].
Cepela MA, Nunery WR, Martin RT. Stimulation of orbital growth by the use of expandable implants in the anophthalmic cat orbit. Ophthal Plast Reconstr Surg. 1992;8(3):157-67; discussion 168-9. [Medline].
Tse DT, Pinchuk L, Davis S, Falcone SF, Lee W, Acosta AC, et al. Evaluation of an integrated orbital tissue expander in an anophthalmic feline model. Am J Ophthalmol. Feb 2007;143(2):317-327. [Medline].
Tse DT, Abdulhafez M, Orozco MA, Tse JD, Azab AO, Pinchuk L. Evaluation of an integrated orbital tissue expander in congenital anophthalmos: report of preliminary clinical experience. Am J Ophthalmol. Mar 2011;151(3):470-82.e1. [Medline].
Quaranta-Leoni FM. Congenital anophthalmia: current concepts in management. Curr Opin Ophthalmol. Sep 2011;22(5):380-4. [Medline].
Mazzoli RA, Raymond WR 4th, Ainbinder DJ, Hansen EA. Use of self-expanding, hydrophilic osmotic expanders (hydrogel) in the reconstruction of congenital clinical anophthalmos. Curr Opin Ophthalmol. Oct 2004;15(5):426-31. [Medline].
Kotlus BS, Dryden RM. Correction of anophthalmic enophthalmos with injectable calcium hydroxylapatite (Radiesse). Ophthal Plast Reconstr Surg. Jul-Aug 2007;23(4):313-4. [Medline].

Anophthalmic socket (left eye).

Close-up view of anophthalmic socket (left eye).

View Table List

Read more about Anophthalmos on Medscape

About Medscape Reference

[ CLOSE WINDOW ]

About Medscape Reference

Medscape Reference is the most authoritative and accessible point-of-care medical reference for physicians and health care professionals. All content is available free of charge, both online and via mobile devices.

Medscape Reference articles represent the expertise and practical knowledge of top physicians and pharmacists from leading academic medical centers in the US and worldwide. In addition, our rigorous literature survey process allows us to rapidly integrate new practice-changing information into the relevant topics by systematically reviewing the major medical and pharmacy journals, news announcements, and important practice guidelines.

Medscape Reference provides comprehensive coverage across more than 30 medical specialties and is composed of the following areas:

Diseases and Conditions

More than 6,300 evidence-based and physician-reviewed disease and condition articles are organized to rapidly and comprehensively answer clinical questions, as well as to provide in-depth information in support of diagnosis, treatment, and other clinical decision-making. Topics are richly illustrated with more than 30,000 clinical photos and radiographic images.

Procedures

More than 650 clinical procedure articles provide clear, step-by-step instructions, and include instructional videos and images to allow clinicians to master the newest techniques or to improve their skills in procedures they have previously performed.

Drugs

More than 2,100 monographs, including prescription and over-the-counter drugs, plus over 5,000 corresponding brand-name drugs, herbals, and supplements, are provided. Drug images and pricing are also included. In addition, a Drug Interaction Checker provides rapid access to tens of thousands of interactions between brand and generic drugs, over-the-counter drugs, and herbals and supplements.

Anatomy

More than 70 anatomy articles feature clinical images and diagrams of the major human body systems and organs. The articles assist with the understanding of the anatomy involved in treating specific conditions and performing procedures. They can also facilitate physician-patient discussions.

Special Features
Best Evidence

This email newsletter features current and clinically relevant journal citations that are selected via our rigorous literature survey review process. These same citations are incorporated into the relevant Medscape Reference articles. This newsletter serves as a quick and easily accessible way to stay up to date with clinically relevant journal articles that impact clinical practice.

Case Studies

These challenging and classic case presentations provide a quick way for practicing physicians to sharpen their diagnostic and patient-management skills. Each case starts with how the patient presented in the clinic and then using a question and answer format, progresses through diagnosis and on to treatment and includes follow up information about outcome for the patient.

Image collections

Image collections are a visually-engaging presentation of both common and uncommon diseases, case presentations, and current controversies in medicine. They are presented in an image rich, slideshow format and are designed to challenge and expand physicians' knowledge of clinically important topics.

Medscape is the leading online destination for healthcare professionals for clinical information. In addition to clinical reference tools, Medscape also offers:

Medscape News Learn more
Medscape Education Learn more