Snowflake vitreoretinal degeneration

Also Known As:

Snowflake degeneration in hereditary vitreoretinal degeneration; Vitreoretinal degeneration, Snowflake type

Networked: 7 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Eye Diseases: 3522
- Retinal Diseases: 3014
  - Retinal Degeneration: 4078
    - Snowflake vitreoretinal degeneration: 7
- Hereditary Eye Diseases: 18
  - Retinal Degeneration: 4078
    - Snowflake vitreoretinal degeneration: 7

Related Diseases

1.	Leber Congenital Amaurosis
2.	Retinal Degeneration
3.	Hyaloideoretinal degeneration of Wagner

Experts

1.	Dubis, Adam M: 2 articles (12/2019 - 01/2019)
2.	Moosajee, Mariya: 2 articles (12/2019 - 01/2019)
3.	Toms, Maria: 2 articles (12/2019 - 01/2019)
4.	Webster, Andrew R: 2 articles (12/2019 - 01/2019)
5.	Pattnaik, Bikash R: 2 articles (07/2015 - 01/2013)
6.	Pillers, De-Ann M: 2 articles (07/2015 - 01/2013)
7.	Edwards, Albert O: 2 articles (03/2013 - 01/2013)
8.	Gorin, Michael B: 1 article (12/2019)
9.	Lim, Wei Sing: 1 article (12/2019)
10.	Burgoyne, Thomas: 1 article (01/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Snowflake vitreoretinal degeneration:

1.	Inwardly Rectifying Potassium Channels (Inward Rectifier Potassium Channels)IBA 01/01/2013 - "Snowflake Vitreoretinal Degeneration (SVD) is associated with the R162W mutation of the Kir7.1 inwardly-rectifying potassium channel. " 07/01/2015 - "Mutations in the KCNJ13 gene that encodes the inwardly rectifying potassium channel Kir7.1 cause snowflake vitreoretinal degeneration (SVD) and leber congenital amaurosis (LCA). "
2.	Retinaldehyde (Retinal)IBA 12/01/2019 - "Mutations in KCNJ13 are associated with two retinal disorders; Leber congenital amaurosis (LCA) and snowflake vitreoretinal degeneration (SVD). " 01/01/2019 - "Mutations in KCNJ13 are associated with two retinal disorders; Leber congenital amaurosis (LCA) and snowflake vitreoretinal degeneration (SVD). "
3.	Versicans (Versican)IBA 10/01/2008 - "Wagner syndrome (WGN1) is associated with mutations in versican (CSPG2) and snowflake vitreoretinal degeneration (SVD) with a mutation in a potassium channel (KCNJ13). "
4.	Potassium Channels (Potassium Channel)IBA 10/01/2008 - "Wagner syndrome (WGN1) is associated with mutations in versican (CSPG2) and snowflake vitreoretinal degeneration (SVD) with a mutation in a potassium channel (KCNJ13). "
5.	Tryptophan (L-Tryptophan)FDA Link 03/01/2013 - "A mutation in KCNJ13 resulting in an arginine-to-tryptophan change at residue 162 (R162W) of Kir7.1 was associated with snowflake vitreoretinal degeneration, an inherited autosomal-dominant disease characterized by vitreous degeneration and mild retinal degeneration. "
6.	Ion Channels (Ion Channel)IBA 01/01/2013 - "Snowflake vitreoretinal degeneration (SVD) mutation R162W provides new insights into Kir7.1 ion channel structure and function."
7.	Arginine (L-Arginine)FDA Link 03/01/2013 - "A mutation in KCNJ13 resulting in an arginine-to-tryptophan change at residue 162 (R162W) of Kir7.1 was associated with snowflake vitreoretinal degeneration, an inherited autosomal-dominant disease characterized by vitreous degeneration and mild retinal degeneration. "

Therapies and Procedures

1.	Light Coagulation 10/01/1983 - "Prophylactic laser photocoagulation in hereditary snowflake vitreoretinal degeneration. "
2.	Lasers (Laser) 10/01/1983 - "Prophylactic laser photocoagulation in hereditary snowflake vitreoretinal degeneration. "