How To Use This Site: Patients

Patient information pages are written in nontechnical language and usually contain some background and historical data about each hereditary eye disease in the database.  The section on Clinical Correlations summarizes medical information about the most important clinical features of each condition.  Only minimal data on therapy is given since your physician will usually explain a course of treatment.

The Genetics section contains information about the gene mutation known to cause the disorder and how it is transmitted in families.  Some basic genetics knowledge is assumed and no attempt is made to repeat detailed explanations of specific inheritance patterns for each disease.  Every family is unique and your physician can explain the pattern for your family.  Generic pedigree patterns with explanatory legends are provided for the common modes of inheritance.  To learn more about genes, inheritance patterns, and genetic diseases, consult the Genetics Home Reference Handbook

The Diagnosis and Prognosis section explains in brief how the diagnosis can be made and how the disease may progress.  We are all unique and each individual reacts differently to a gene mutation.    Only your physician can explain the specific clinical details of your condition and advise you of possible treatments and outcomes.  For more detailed medical information about a disorder in this database, go to the patient information page of the condition and click on the disorder under Medical Information.

There are many websites that contain medical information for patients.   For general information on common eye conditions see:  .  For additional information on anatomy  and testing with video demonstrations of many condtions see:  For information on prevention of eye disease and how you can help support eye research, visit the Research to Prevent Blindness website:

The Web Resources section usually contains several Internet links specific to the condition discusssed.  Some will take you to specific support group sites (for an extensive list of these, see the Genetic and Rare Conditions Site) where others with disorders similar to that in your family offer help and information.  Where available, links to charities and foundations dedicated to specific genetic disorders are listed as well, together with government-sponsored information sites where you can learn much more about genetics and what is known about specific disorders.  For a directory of helpful sites, search the National Library of Medicine's Directory of Health Organizations.  You can learn more about professional genetic counseling by visiting the Genetic Counseling site.

You may print the patient information pages, or email them to others.  Links to the specific medical description is available on each patient information page.

NOTE:  Information contained in this database is not intended to be used as medical advice nor should it be used to substitute for or replace information provided by your family physician or medical specialist.