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: 18 relevant articles (2 outcomes, 1 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Blindness (Hysterical Blindness)
2.	Stroke (Strokes)
3.	Multiple Sclerosis
4.	Glaucoma
5.	Diabetes Mellitus

Experts

1.	Balicka, Agnieszka: 1 article (01/2021)
2.	Balicki, Ireneusz: 1 article (01/2021)
3.	Goleman, Małgorzata: 1 article (01/2021)
4.	Chen, Fang: 1 article (01/2020)
5.	Gao, Feng-Juan: 1 article (01/2020)
6.	Hu, Fang-Yuan: 1 article (01/2020)
7.	Huang, Jie: 1 article (01/2020)
8.	Li, Jian-Kang: 1 article (01/2020)
9.	Li, Li-Li: 1 article (01/2020)
10.	Li, Wei: 1 article (01/2020)

Drugs and Biologics

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

1.	Retinaldehyde (Retinal)IBA 12/01/2019 - "3D retinal organoids display huge potential for the investigation of the pathogenesis of monogenic hereditary eye diseases that are related to the malfunction or degeneration of photoreceptors or retinal ganglion cells by providing an effective in vitro tool with multiple applications. " 07/01/1983 - "Progressive retinal atrophy (PRA), a hereditary eye disease leading to blindness, was found in the Abyssinian breed of cat. "
2.	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. "
3.	DNA (Deoxyribonucleic Acid)IBA 04/10/2018 - "High-throughput DNA sequencing was used to analyze the sequences of 173 genes associated with hereditary eye diseases in the proband. " 06/22/2010 - "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."
4.	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."
5.	Proteins (Proteins, Gene)FDA Link 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. "
6.	EnzymesIBA 05/11/2017 - "This review introduces the molecular characteristics of 4 major enzymes used in the genome editing, including homing endonucleases, zinc finger nucleases, transcription activator-like effector nucleases, and clustered regularly interspaced short palindromic repeats (CRISPR)/ CRISPR-associated protein 9 (Cas9), and summarizes the current applications of this technology in investigating the pathogenic mechanisms underlying the hereditary eye diseases. "
7.	EndonucleasesIBA 05/11/2017 - "This review introduces the molecular characteristics of 4 major enzymes used in the genome editing, including homing endonucleases, zinc finger nucleases, transcription activator-like effector nucleases, and clustered regularly interspaced short palindromic repeats (CRISPR)/ CRISPR-associated protein 9 (Cas9), and summarizes the current applications of this technology in investigating the pathogenic mechanisms underlying the hereditary eye diseases. "
8.	Mitochondrial DNA (mtDNA)IBA 01/01/2020 - "Overall, targeted exon sequencing was used to screen 792 genes associated with common hereditary eye diseases, and the mtDNA genome-wide were screened by next-generation sequencing. "
9.	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). "
10.	CRISPR-Associated Protein 9IBA 05/11/2017 - "This review introduces the molecular characteristics of 4 major enzymes used in the genome editing, including homing endonucleases, zinc finger nucleases, transcription activator-like effector nucleases, and clustered regularly interspaced short palindromic repeats (CRISPR)/ CRISPR-associated protein 9 (Cas9), and summarizes the current applications of this technology in investigating the pathogenic mechanisms underlying the hereditary eye diseases. "

Therapies and Procedures

1.	Intraocular Injections 08/11/2018 - "The result of a clinical trial launched in 2007 indicated that intraocular injection of the recombination of adeno-associated virus and target gene is an effective and safe cure for Leber's Congenital Amaurosis (LCA), which brings hope of treating other hereditary eye diseases with gene therapy. "
2.	Therapeutics 09/15/1991 - "[Hereditary eye diseases--diagnosis, therapy and prevention]." 01/01/2001 - "Perinatal screening for intrauterine factors and hereditary eye diseases, and appropriate interventional therapy will help in reducing the prevalence of childhood blindness."
3.	Slit Lamp 01/01/2021 - "Ophthalmic examinations were performed using slit lamp biomicroscopy, ophthalmoscopy, and tonometry based on the ophthalmological protocol for the examination of hereditary eye diseases. "
4.	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. "