Hereditary Eye Diseases

Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder.

Also Known As:

Networked: 11 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Stroke (Strokes)
2.	Multiple Sclerosis
3.	Glaucoma
4.	Diabetes Mellitus
5.	Retinitis Pigmentosa (Pigmentary Retinopathy)

Experts

1.	Good, Kathryn L: 1 article (08/2014)
2.	Grahn, Robert A: 1 article (08/2014)
3.	Lyons, Leslie A: 1 article (08/2014)
4.	Alhaddad, Hasan: 1 article (08/2014)
5.	Rah, Hyung-Chul: 1 article (08/2014)
6.	Pedersen, Niels C: 1 article (08/2014)
7.	Maggs, David J: 1 article (08/2014)
8.	Gandolfi, Barbara: 1 article (08/2014)
9.	Peterson, Carlyn B: 1 article (08/2014)
10.	Wang, Juan: 1 article (01/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hereditary Eye Diseases:

1.	Psychotropic Drugs (Psychoactive Drugs)IBA 08/01/1996 - "The criteria for exclusion from the study were glaucoma or hereditary eye disease in an immediate family relative, diabetes mellitus, unstable or manifest hypertonia, multiple sclerosis, convulsive disorders, a previous stroke, or the use of psychoactive drugs. "
2.	DNA (Deoxyribonucleic Acid)IBA 01/01/2010 - "Five unrelated families with suspected WS1 were selected from our Genomic DNA Repository for Hereditary Eye Diseases. " 09/01/2007 - "CCMC families were recruited from a national database on hereditary eye diseases; DNA was procured from a national gene bank on hereditary eye diseases and by blood sampling from one large family. " 12/01/2001 - "Current DNA-based tests for hereditary eye disease."
3.	Norrie diseaseIBA 03/01/1989 - "Thus, in addition to retinitis pigmentosa and Norrie disease, CSNBX represents the third well-known hereditary eye disease the locus of which is mapped on the proximal Xp and closely linked to DXS7." 11/01/1992 - "This region of the human X chromosome is known to carry genes for several hereditary eye diseases including retinitis pigmentosa (RP2), congenital stationary night blindness (CSNB-1) and Norrie disease. "
4.	Retinaldehyde (Retinal)IBA 07/01/1983 - "Progressive retinal atrophy (PRA), a hereditary eye disease leading to blindness, was found in the Abyssinian breed of cat. "
5.	Retinal Pigments (Pigments, Visual)IBA 09/15/1996 - "Due to the unique role of 11-cis retinol dehydrogenase in the generation of visual pigments, it is a candidate gene for involvement in hereditary eye disease."
6.	Proteins (Proteins, Gene)IBA 10/01/2007 - "Bioinformatics analysis indicates that this protein belongs to a clade of flagellum-specific TBCC-like proteins that includes the human protein, XRP2, mutations which lead to certain forms of the hereditary eye disease retinitis pigmentosa. "
7.	CeroidIBA 01/01/1997 - "technique in some hereditary eye diseases involving the retinal pigment epithelium (RPE) in animals (English setter dogs and Polish Owczarec Nizinny (PON) dogs with ceroid lipofuscinosis and Briard dogs with a slowly progressive rod-cone dystrophy associated with RPE inclusions) and in humans (Best's disease). "
8.	congenital stationary Night blindnessIBA 11/01/1992 - "This region of the human X chromosome is known to carry genes for several hereditary eye diseases including retinitis pigmentosa (RP2), congenital stationary night blindness (CSNB-1) and Norrie disease. "
9.	retinol dehydrogenaseIBA 09/15/1996 - "Due to the unique role of 11-cis retinol dehydrogenase in the generation of visual pigments, it is a candidate gene for involvement in hereditary eye disease."

Therapies and Procedures

1.	Drug Therapy (Chemotherapy) 08/01/2014 - "Hereditary eye diseases of animals serve as excellent models of human ocular disorders and assist in the development of gene and drug therapies for inherited forms of blindness. "