The Anophthalmia/ Microphthalmia (A/M) 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 Albert Einstein Medical Center, 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)
Purpose
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.
Clinical
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.
Laboratory
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.
Eligibility
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 Albert Einstein Healthcare
Network IRB approved consent form.
Publications
Click here for a list of publications
Contacts
Tanya M. Bardakjian, MS, CGC
Coordinator of anophthalmia/microphthalmia Research Project
215-456-8722
Albert Einstein Medical Center
5501 Old York Rd
Genetics Levy 2 West
Philadelphia, PA 19141
bardakjiant@einstein.edu
Funding for this Project provided by
Albert B. Millett Memorial Foundaition, a Mellon Mid-Atlantic Charitable Trust
and
Rae S. Uber Trust, a Mellon Mid- Atlantic Charitable Trust
and
Gustavus and Louise Pfeiffer Research Foundation
