Genetic Counseling for Genetic Eye Disorders

Joanne E. Sutherland

in Genetic Diseases of the Eye, Second Edition

Second edition

Published on behalf of © Elias I. Traboulsi

Published in print January 2012 | ISBN: 9780195326147
Published online October 2012 | e-ISBN: 9780199975181 | DOI:

Series: Oxford Monographs on Medical Genetics

Genetic Counseling for Genetic Eye Disorders

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Ophthalmologists who diagnose GEDs can make themselves aware of the support services in the community to provide to their newly diagnosed patients. A list of resources can include contact names and a description of the services. The Royal National Institute for the Blind website22 can be used to locate services worldwide for the visually impaired.

The lack of a treatment or cure can result in feelings of disappointment for both physician and patient. Diagnosing physicians have a responsibility to provide the initial help and hope for their patients. The sense of not being able to do anything is partially alleviated when the ophthalmologist refers the patient to:

A rehabilitation and counseling service

A low-vision service for a functional vision assessment

Contact information for resources for low vision

A Foundation for the Blind and support groups

Genetic counseling

An ocular genetics service that specializes in connecting families with the above services

The genetic counseling profession does more than provide estimates of risks for another family member to be affected. Counselees need practical knowledge about the prognosis for their GED and information to make informed decisions about prenatal and other life options—for example, choices for education, employment, and leisure activities.

The genetic counseling session includes:

Information about biology, eye anatomy, etc.

Implications of the diagnosis (prognosis).

Discussion of recurrence risks

Information about research, resources, rehabilitation, and support

Discussions about follow-up plans: genetic testing, referrals for other services (low-vision clinics, early intervention programs), other eye tests (OCT, fluorescein angiogram)

In the past few years, an increasing number of genes have been identified as causing specific GEDs. More patients know their causative mutation and therefore have a more accurate diagnosis and prognosis for their GED. Gene replacement therapy depends on gene identification. Subsequently, there is a need for more ocular genetic centers specialized to offer genetic counseling, genetic testing, and the other supportive services needed by this group of ocular patients. Ocular genetic counseling and ocular genetic analysis require financial support from governments, health institutions, and insurance companies.

Chapter.  23551 words.  Illustrated.

Subjects: Clinical Genetics ; Ophthalmology

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