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Bornholm Eye Disease

Networked: 4 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Eye Diseases: 3522
- Refractive Errors: 3499
  - Myopia: 8363
    - Bornholm Eye Disease: 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - X-Linked Genetic Diseases: 42
    - Bornholm Eye Disease: 4

Related Diseases

1.	Myopia
2.	Color Vision Defects (Color Blindness)
3.	Blue cone monochromatism

Experts

1.	Neitz, Maureen: 3 articles (05/2017 - 02/2013)
2.	Davies, Wayne I L: 2 articles (01/2019 - 02/2013)
3.	Hunt, David M: 2 articles (01/2019 - 02/2013)
4.	Neitz, Jay: 2 articles (05/2017 - 01/2016)
5.	Michaelides, Michel: 2 articles (01/2016 - 02/2013)
6.	Griffiths, Lyn R: 1 article (01/2019)
7.	Mackey, David A: 1 article (01/2019)
8.	Mountford, Jessica K: 1 article (01/2019)
9.	Yazar, Seyhan: 1 article (01/2019)
10.	Greenwald, Scott H: 1 article (05/2017)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Bornholm Eye Disease:

1.	OpsinsIBA 01/01/2019 - "In Bornholm eye disease, a defect in the splicing of transcripts from a variant OPN1LW opsin gene leads to a depletion in spliced transcript levels and, consequently, a reduction in photopigment in photoreceptors expressing the variant gene. " 01/01/2016 - "Mutations in the coding sequence of the L and M opsin genes are often associated with X-linked cone dysfunction (such as Bornholm Eye Disease, BED), though the exact color vision phenotype associated with these disorders is variable. " 02/15/2013 - "To determine the role of variant L opsin haplotypes in seven families with Bornholm Eye Disease (BED), a cone dysfunction syndrome with dichromacy and myopia. "
2.	Cone OpsinsIBA 05/01/2017 - "Two L/M cone opsin interchange mutants, designated LIAVA and LVAVA, are associated with clinical diagnoses, including red-green color vision deficiency, blue cone monochromacy, cone degeneration, myopia, and Bornholm Eye Disease. "