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The Conformer

ICAN's Family Newsletter Summer 1996

Message from the President


An update From Summer Vacation...


While we have all been taking advantage of summer vacation
opportunities, ICAN has been working hard. The priorities this summer have
been to continue to establish and strengthen ICAN's structure and its services to families, friends and professionals. This summer update provides an overview of the exciting progress ICAN is making. We hope you and your families had a safe and happy summer!

                            Sandy Gomberg


Funding for this newsletter provided by
The Albert Einstein Society
Albert Einstein Healthcare Network


page 2

ICAN receives MARHGN Grant

As we announced in the last Conformer, ICAN was awarded a grant by the Mid-Atlantic Regional Human Genetics Network (MARHGN) to develop an informational brochre about anophthalmia/microphthalmia.

Thanks to the support and efforts of the Albert Einstein Medical Center Department of Genetics and their able summer intern, Tayna M. Bardakjian, the first draft of the brochure is completed. The goal of the brochure is to provide brief and accurate information about anophthamia/microphthalmia and offer resources for individuals to contact to obtain more information and support.

A copy of the brochure is included with this issue of the Conformer for your review. Please send your comments/suggestions to:

c/o Albert Einstein Medical Center
Genetics Division, Levy 2 West
5501 Old York Road
Philadelphia, PA 19141

Additional copies of the brochure are available by contacting ICAN at 1-800-580-ican of AEMC at (215)456-8722.


ICAN Web Page

Through the generous sponsorship of Arthur C. Perry, M.D., Medical Director of Integrated Orbital Implants, Inc in San Diego, ICAN has joined the Internet with a Web page. Important ICAN news printed in the Conformer will be accessible via the Internet in the near future. We are currentl working out all of the technical details. Watch out for ICAN at this WWW (look under patients files when you reach the home page), this fall! The internet will be a wonderful place for new families to find us!


page 3

by Sarah Rediger

I had this dream:
Everyone thought I was blind,
but I knew I could see.
I tried to explain it to them,
but no one would hear me.
All people have their own colors
in voices, skin, the gentle touch of fingertips,
and soft kisses on my chin.
The colors were as real to me
as sun and sky and earth and sea.
My daddy is white like cotton and
undershirts and my favorite marshmallows.
Mommy is red with apple cheeked smiles
and kisses and love.
My sister is pink like bubble gum,
lollipops, and ice cream.
My mom-mom is yellow,
warm like sunshine hugs.
My Boppy is purple like blankets and
pillows and stuffed velvet toys.
Outside is green with flowers,
trees, and soft grass.
Rain is brown like dirt and the
mud puddles it makes.
My home is orange, bright and
safe, summertime and bouncing balls.
When I awoke from my dream
and knew I could see,
I spent hours pouring over letters
and old photographs looking for new colors.
The golden haired angel smiled out at me.
He seemed to know what it means
to really see.
His colors are ruch and vibrant, alive
with sound and texture and emotion,
a more vivid work of art than
any I could imagine.
It's not dark at all,
just pure and whole and beautiful.

Sarah Rediger is Nicky Gomberg's nanny. Four year old Nicky has bilateral anophthalmia.


page 4

ICAN and the anophthalmia/microphthalmia registry have joined efforts to update and stramlie our mailing list databases. As a result, ICAN and the A/M Registry hope to be able to process requests for information and inclusions on the mailing list more expediently.

Please contact us if you or someone you know has been previously missed on our mailing list or if you have recently changed your address. Please call 1-800-ican and leave a detailed messge on the voice mail.

* * * *

The Bulletin Board

1) An abstract about genetic counseling for anophthalmia/microphthalmia (A/M) was accepted as a poster presentation for the National Society of Genetic Counselers meeting in October 1996 in San Francisco. The poster will discuss different individuals with A/M and serve to better inform the genetic counseling community about A/M. This exposure will help speard information abot A/M and ICAN.

2)Unfortunately, there will not be a family picnic held this September. However, plans are in the works for an educational/social day towards the end of October. We will let you know the final details soon. Thanks for your patience.

3) The A/M registry at AEMC is constantly growing with more and more responses coming in. We have about 20 responses from all over the world, including, Australia, Japan, and Canada, thus far and are hoping for many more. We have noticed some common threads of issues, concerns and medical problems among the responses. If you haven't returned your registry or wish to receive one, please call (215) 456-8722.


page 5

reviewed by Dr. Adele Schneider

Three dimensional ultrasound: abnormalities of the fetal face in surface and volume rendering mode. Andreas Lee,et al.
British Journal of OB/GYN,102:302-306,1995

The new technique of three dimensional ultrasound is desctibed in the evaluation of complex malformations of the face in the fetus. Many fetal anomalies can be diagnosed by routine level II ultrasound but difficulties are encountered if there is insufficient amniotic fluid or if the fetus is in an awkward position for viewing a particular area.

A 29 year old woman with a history of a child with unilateral anophthalmia was referred at 28 weeks gestation for ultrasound. On routine ultrasound of the face, the orbital cavities appeared normal but the eyeball on the right and the lens could not be seen because of the position of the fetal face. The rest of the face was not visible. On 3-D ultrasound a normal appearing face was noted with possible unilateral anophtahlmia. At birth a healthy infant with normal appearing face and unilateral anopthalmia was noted.

The authors concluded that 3-D ultrasound is an exciting new tool in the ultrasound evaluation of the fetus especially the fetal face. It gives clearer information about the extent of the malformation which is useful for the family and provides guidance for management to the physicians.

First and second trimester diagnosis of fetal ocular defects and associated anomalies: report of eight cases. Moshe Bronshtein, et al.
OB/GYN, 77:443, 1991

Transvaginal ultrasound is described in this article as useful for the detection of many structural fetal anomalies. In 8 case reports, eye anomalies are described that were detected among 1600 fetal screenings by transvaginal U/S between 12-18 weeks gestation. In previous reports fetal ocular malformations were deteced only after 22 weeks gestation.

In all the fetuses screened, the eyes were detected from 12 weeks gestation onward. The fetal lens was identified in all the fetuses by 14 weeks. Fetal eye lids were noted in most cases by the beginning of the second trimester.

2 cases of microphthalmia and early cataract were detceted by transvaginal ultrasound screening. In two cases with previously affected fetuses with bilateral anophthalmia, they were able to diagnose normal eye and lens development as early as 12-13 weeks gestation. However, they also missed 2 cases of anophthalmia, one at 12 weeks gestation, and anoth was found to have microphthalmia at repeat U/S at 31 weeks gestation after a normal U/S early in pregnancy.



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