Patient Resources- Genetic Eye Disease Links

Genetic Eye Disorders Resources

American Academy of Ophthalmology (AAO) Recommendations for Genetic Testing of Inherited Eye Diseases
AAO task force's 2014 recommendations for ophthalmic genetic testing.

American Board of Genetic Counseling
The organization in charge of giving credential certification in the field of genetic counseling in the United States and Canada.

American College of Medical Genetics
An organization composed of various individuals with specializations in genetics focused on the practice of medical genetics.

American Society of Human Genetics
Professional organization for specialist in human genetics.

Atlas of Genetics and Cytogenetics in Oncology and Haematology
Online encyclopedia and database atlas of genes, cytogenetics and cancer diseases that includes an overview of eye tumors.

Children's Craniofacial Association
Children's Craniofacial Association is a national, 501(c)3 nonprofit organization, headquartered in Dallas, Texas. Nationally and internationally, CCA addresses the medical, financial, psychosocial, emotional, and educational concerns relating to craniofacial conditions.

Clinical Trials Database
A database that contains clinical studies of human participants from around the world.

Eye Wiki Genetic Eye Diseases
List of select genetic eye conditions in AAO’s online eye encyclopedia written and maintained by eye physicians & surgeons.

Comprehensive database containing information on known and predicted human genes.

Publications consisting of standardized and clinical information for the diagnoses, management, and treatment of patients with inherited conditions.

Genetic Alliance
Nonprofit health advocacy group with a network of numerous disease advocacy organizations that has a focus of promoting health in genetic research and technology.

Genetic and Rare Disease Information Center (GARD)
A database that is part of the NIH that provides useful information about genetic and rare diseases.

Genetics Home Reference
A website that provides information about genetic variations.

Hermansky-Pudlak syndrome Network INC
This Network is a not for profit support group, founded in 1992, with a mission to provide information, awareness, research and support to individuals and families affected with Hermansky-Pudlak syndrome and other related disorders.  Hermansky-Pudlak syndrome is a type of albinism in which patients bleed or bruise easily and may have lung or gastrointestinal problems as well.

Hereditary Ocular Disease, University of Arizona
A database of hereditary ocular diseases for patients and clinicians.

HUGO Gene Nomenclature Committee (HGNC)
Authority that assigns the nomenclature standards for human genes.

Human Genome Variation Society (HGVS)
Maintains genomic variation data and nomenclature information on sequence variants.

International Society for Genetic Eye Diseases & Retinoblastoma (ISGEDR)
Professional organization with a goal of promoting shared information, collaborations and the dissemination of scientific knowledge of genetic diseases of the eye and in retinoblastoma.

Published material related to human medical genetics.

This is a nonprofit organization, stared in 2005, with an aim to promote the quality of life of individuals and families affected by mitochondrial disease.

Mitochondrial Medicine Society
This Society, founded in 2000, represents a group of international physicians, researchers and clinicians with an aim to promote the identification, management and treatment for mitochondrial diseases.

My Family Health Portrait
Tool used to create a family health history.

National Center for Biotechnology Information (NCBI)
Formed as a division of the National Library of Medicine in 1988, which now serves as a central hub for providing numerous databases, tools and educational resources of biomedical information.

National Human Genome Research Institute Glossary
Contains terms and concepts used in the study of genetics for the public.

National Institutes of Health Genetic Testing Registry (GTR)
Serves as a centralized location for providers to submit genetic test information.

National Newborn Screening & Global Resource Center (NNSGRC)
Contains information on newborn screening, state contacts, general resources, and provides information sheets that describes the proper steps to follow after receiving a screening report

National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE)
National Eye Institute research initiative allowing researchers access to DNA samples, clinical data, and patients interested in research.

National Organization for Rare Disorders (NORD)
An organization that provides support to those with rare disease by providing funding, research, education, and networking.

National Society of Genetic Counselors
An organization composed of trained genetic counselors and other health professionals dedicated to the promotion of genetic counseling.

OMIM(Online Mendelian Inheritance in Man)

A database of human genes and genetic phenotypes.

Provides information about rare diseases and treatments.

Pediatric Ophthalmology Education Center
AAO pediatric ophthalmology resource center.

Pedigree Nomenclature
A standard used in the design of pedigrees to provide consistent information to research and health professionals as well as those in training.
(Bennett RL et al, Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors, J Genet Couns. 2008 Oct;17(5):424-33, doi: 10.1007/s10897-008-9169-9. Epub 2008 Sep 16)

United Mitochondrial Disease Foundation (UMDF)
The UMDF has a mission is to promote research and education, and give support for the identification and treatment of mitochondrial disorders.

Provides resources and support for families of children that have rare chromosome disorders

List revised from AAO’s Eye Wiki Genetic Eye Disease Related Terms and Resources