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Leber Congenital Amaurosis

A rare degenerative inherited eye disease that appears at birth or in the first few months of life that results in a loss of vision. Not to be confused with LEBER HEREDITARY OPTIC NEUROPATHY, the disease is thought to be caused by abnormal development of PHOTORECEPTOR CELLS in the RETINA, or by the extremely premature degeneration of retinal cells.
Also Known As:
Amaurosis, Leber Congenital; Congenital Amaurosis of Retinal Origin; Congenital Retinal Blindness; Dysgenesis Neuroepithelialis Retinae; Hereditary Epithelial Dysplasia of Retina; Hereditary Retinal Aplasia; Heredoretinopathia Congenitalis; Leber Abiotrophy; Leber Congenital Tapetoretinal Degeneration; Leber's Amaurosis; Abiotrophies, Leber; Abiotrophy, Leber; Amauroses, Leber Congenital; Amauroses, Leber's; Amaurosis, Leber's; Blindness, Congenital Retinal; Blindnesses, Congenital Retinal; Congenital Amauroses, Leber; Congenital Amaurosis, Leber; Congenital Retinal Blindnesses; Leber Abiotrophies; Leber Amaurosis; Leber Congenital Amauroses; Leber's Amauroses; Lebers Amaurosis; Retinal Blindnesses, Congenital
Networked: 306 relevant articles (5 outcomes, 29 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Retinal Diseases
2. Retinal Dystrophies
3. Ciliopathies
4. Retinitis Pigmentosa (Pigmentary Retinopathy)
5. Choroideremia

Experts

1. Jacobson, Samuel G: 34 articles (01/2022 - 01/2003)
2. Cideciyan, Artur V: 28 articles (01/2022 - 04/2004)
3. Sumaroka, Alexander: 20 articles (01/2022 - 04/2005)
4. Roman, Alejandro J: 19 articles (01/2022 - 05/2007)
5. Koenekoop, Robert K: 14 articles (01/2018 - 04/2004)
6. Schwartz, Sharon B: 14 articles (01/2017 - 04/2005)
7. Stone, Edwin M: 13 articles (01/2017 - 04/2005)
8. Hauswirth, William W: 12 articles (01/2020 - 03/2006)
9. Aleman, Tomas S: 12 articles (01/2018 - 04/2004)
10. Cremers, Frans P M: 12 articles (01/2018 - 09/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Leber Congenital Amaurosis:
1. Retinaldehyde (Retinal)IBA
2. Phosphotransferases (Kinase)IBA
3. guanylate cyclase 1IBA
4. A-Form DNA (A-DNA)IBA
5. Proteins (Proteins, Gene)FDA Link
6. Retinal Pigments (Pigments, Visual)IBA
7. aryl hydrocarbon receptor-interacting proteinIBA
8. RetinoidsIBA
9. DNA (Deoxyribonucleic Acid)IBA
10. retinol dehydrogenaseIBA

Therapies and Procedures

1. Therapeutics
2. Slit Lamp
3. Cell- and Tissue-Based Therapy (Cell Therapy)
4. Precision Medicine
5. Corneal Transplantation (Keratoplasty)