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The Anophthalmia Microphthalmia Registry

  • Background

    Anophthalmia/microphthalmia (A/M) are birth defects defined by either extremely small or underdeveloped eyes. Anophthalmia/microphthalmia are considered to be the severe end of a spectrum of eye anomalies; which include coloboma at the milder end of the spectrum. A/M may be in on eye or both and can occur as an isolated finding or in combination with birth defects. There are thought to be many underlying causes of A/M. In most cases, there is no family history of the condition.

    The Anophthalmia/Microphthalmia Registry was established in 1993 at Einstein Medical Center Philadelphia, with funding from the Albert Einstein Society, to assemble a national database of individuals with A/M and to undertake a descriptive analysis of the registry population. Recent advances in gene research have identified several genes associated with development of the mammalian eye. Research is currently being undertaken to identify mutations in these genes, which lead to A/M in humans.

    Our aim is to collect extensive clinical information on individuals with severe eye malformations including anophthalmia, microphthalmia and coloboma. We will then summarize the findings and describe other birth defects that occur with eye malformation. We also hope to identify new syndromes associated with severe eye malformations. In addition we will attempt to identify genes that can cause these eye malformations. These genes will help us understand how these malformations occur.

    We are looking for individuals with:

    • Anophthalmia (absence of one or both eyes)
    • Microphthalmia (small eye)
    • Coloboma (closure defect in iris, retina or optic nerve)



    This study will try to learn more about the genetic cause and conditions related to anophthalmia and microphthalmia. The study will combine all relevant clinical information in individuals with A/M and analyze DNA whenever possible. The goal is to better understand the conditions that may be associated with A/M, and to identify genetic mutations associated with the condition.

    Patients with anophthalmia or microphthalmia in one or both eyes are eligible for this study. The parents and siblings may also be included in genetic studies. Patients may participate in both the clinical and laboratory part of the study or the clinical alone. If a patient wants to participate in the laboratory part he/she must also take part in the clinical part. Each part of the study is described below.


    For this part of the study, individuals provide medical evaluation records, travel to our site for Clinical Genetics evaluation or have an evaluation by a local Geneticist near them. A clinical Genetics evaluation entails a physical exam, clinical photography and blood tests.


    This arm entails DNA analysis to identify or attempt to identify the genetic cause of anophthalmia/microphthalmia. The DNA sample is obtained by blood draw in most cases. The blood is then shipped (at no cost to participant) to the laboratory. In some cases a cotton swab may be used to collect a specimen from the inside of the cheek.


    Any individual with anophthalmia or microphthalmia will be eligible for inclusion in this study. Parents and siblings of affected individuals will be enrolled in some cases.

    Specimens from patients collected at outside institutions can be accepted if accompanied by the Einstein Healthcare Network IRB approved consent form.


    Tanya M. Bardakjian, MS, CGC
    Coordinator of anophthalmia/microphthalmia Research Project
    Einstein Medical Center Philadelphia
    5501 Old York Rd
    Genetics Levy 2 West
    Philadelphia, PA 19141


    Funding for this Project provided by

    Albert B. Millett Memorial Foundaition, a Mellon Mid-Atlantic Charitable Trust
    Rae S. Uber Trust, a Mellon Mid- Atlantic Charitable Trust
    Gustavus and Louise Pfeiffer Research Foundation

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    Accreditation & Partnerships

    Victor Center Philadelphia

    The Victor Center for Jewish Genetic Diseases

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