How To Use This Site: Clinicians


This is a portal site, designed to be used at the point-of-service to enable rapid determination of the most likely diagnosis by reviewing the salient clinical and genetic features of single gene disorders.  Each condition also has links to other online resources, including peer-reviewed articles, for additional study when time permits.  The database is encyclopedic containing over 630 conditions with abnormalities of the eye including both systemic disorders and those with clinical signs limited to the eye.

The Clinical Characteristics section contains information about the phenotype separated into subsections entitled 'Ocular Features' and 'Systemic Features'.  The Genetics section describes the mode of inheritance together with information on the gene locus and the nature of the molecular mutation if known.  Known genes mentioned in this section are now links to Genetics Home Reference or OMIM websites containing basic metabolic and clinical information regarding the nature and function of disorder-specific coding sequences.  In addition, when downstream biochemical information is available regarding specific gene action responsible for the phenotype, it is presented graphically.  

Treatment  Options mentions common therapies that deserve consideration but because these are often highly technical and individualized, no attempt is made to discuss these in detail.  The References section contains a limited number of the most relevant and current publications with PubMed links to journal abstracts.

The OMIM number is a link to the condition described in Online Mendelian Inheritance in Man(tm), a comprehensive and current compendium of human genes and phenotypes copyrighted by the Johns Hopkins University and made available online by the National Center for Biotechnology Information (NCBI).  The mode of inheritance and the symbol of the gene containing the mutation are next listed whenever known.  Many conditions have alternate titles and these are listed next.

The Clinical Features list contains signs and symptoms characteristic of the disorder.  These are live links so that clicking on any of these will generate a list of disorders that also have this feature (see Search Tips). The Resources box contains links to online sites containing more detailed medical information.

Clinical information may be sparse especially when few families have been reported.  Ocular evaluations in older publications are also less extensive since more modern diagnostic techniques such as OCT, electrodiagnostic studies, and ultrasound were not available.  Further advancements in molecular biology will clarify the classification of the many disorders that are confusing today when overlapping clinical and anatomical characteristics create confusion.


A patient information page for each disorder can be accessed from the medical description page or accessed directly from the PATIENT INFORMATION menu. They may be printed for patients or emailed. The latter may be preferable since the active links will take the patient directly to support groups, relevant foundations, or consumer organizations containing more information.