corneal type 1 Macular dystrophy

Also Known As:

Macular dystrophy, corneal type 1; Corneal dystrophy, macular type; Groenouw type II corneal dystrophy; Macular Corneal Dystrophy, Type I; Macular Dystrophy, Corneal, 1; Macular corneal dystrophy type 1; Mcd; Mcdc1

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

Disease Context: Research Results

Eye Diseases: 3522
- Corneal Diseases: 916
  - Hereditary Corneal Dystrophies: 820
    - corneal type 1 Macular dystrophy: 4
- Hereditary Eye Diseases: 18
  - Hereditary Corneal Dystrophies: 820
    - corneal type 1 Macular dystrophy: 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Hereditary Eye Diseases: 18
    - Hereditary Corneal Dystrophies: 820
      - corneal type 1 Macular dystrophy: 4

Experts

1.	Akama, Tomoya O: 1 article (07/2010)
2.	Boote, Craig: 1 article (07/2010)
3.	Kinoshita, Shigeru: 1 article (07/2010)
4.	Meek, Keith M: 1 article (07/2010)
5.	Palka, Barbara P: 1 article (07/2010)
6.	Quantock, Andrew J: 1 article (07/2010)
7.	Sotozono, Chie: 1 article (07/2010)
8.	Tanioka, Hidetoshi: 1 article (07/2010)
9.	Yagi, Naoto: 1 article (07/2010)
10.	Young, Robert D: 1 article (07/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to corneal type 1 Macular dystrophy:

1.	Keratan SulfateIBA 09/01/2007 - "Serum antigenic keratan sulfate (AgKS) levels were measured for confirmation of the diagnosis and subtyping of MCDC1. " 03/01/2000 - "Ultrastructural localization of sulfated and unsulfated keratan sulfate in normal and macular corneal dystrophy type I." 03/01/2000 - "Keratan sulfate (KS) proteoglycans are of importance for the maintenance of corneal transparency as evidenced in the condition macular corneal dystrophy type I (MCD I), a disorder involving the absence of KS sulfation, in which the cornea becomes opaque. " 11/01/1997 - "Patients with macular corneal dystrophy type I have sulfotransferase activity for sulfating at least 1 of the 2 sugars in keratan sulfate. " 11/01/1997 - "Serum from patients with macular corneal dystrophy type I has the same level of sulfotransferase activity for keratan sulfate and chondroitin sulfate as found in age-matched controls. "
2.	SulfotransferasesIBA 11/01/1997 - "Serum sulfotransferase levels in patients with macular corneal dystrophy type I." 11/01/1997 - "Patients with macular corneal dystrophy type I have sulfotransferase activity for sulfating at least 1 of the 2 sugars in keratan sulfate. " 11/01/1997 - "Serum from patients with macular corneal dystrophy type I has the same level of sulfotransferase activity for keratan sulfate and chondroitin sulfate as found in age-matched controls. " 11/01/1997 - "To measure the levels of sulfotransferase activity for keratan sulfate and chondroitin sulfate in serum of patients with macular corneal dystrophy type I, an inherited disorder that is characterized by the absence of sulfate esters on keratan sulfate in the corneal stroma. "
3.	Sulfates (Sulfates, Inorganic)IBA 11/01/1997 - "To measure the levels of sulfotransferase activity for keratan sulfate and chondroitin sulfate in serum of patients with macular corneal dystrophy type I, an inherited disorder that is characterized by the absence of sulfate esters on keratan sulfate in the corneal stroma. "
4.	Proteoglycans (Proteoglycan)IBA 03/01/2000 - "Keratan sulfate (KS) proteoglycans are of importance for the maintenance of corneal transparency as evidenced in the condition macular corneal dystrophy type I (MCD I), a disorder involving the absence of KS sulfation, in which the cornea becomes opaque. "
5.	EstersIBA 11/01/1997 - "To measure the levels of sulfotransferase activity for keratan sulfate and chondroitin sulfate in serum of patients with macular corneal dystrophy type I, an inherited disorder that is characterized by the absence of sulfate esters on keratan sulfate in the corneal stroma. "
6.	CollagenIBA 07/01/2010 - "Collagen fibril spacing is reduced and large-diameter collagen fibrils are seen in macular corneal dystrophy type I, with the deep stroma affected more. " 07/01/2010 - "Keratan sulphate was not detectable in blood serum, classifying the disease as macular corneal dystrophy type I. Collagen interfibrillar spacing dropped linearly with stromal depth from the anterior to posterior cornea, measuring 5-10% less in the posterior 100 microm of the MCD stroma compared to the anterior 100 microm (p < 0.001). "
7.	Chondroitin Sulfates (Chondroitin Sulfate)IBA 11/01/1997 - "Serum from patients with macular corneal dystrophy type I has the same level of sulfotransferase activity for keratan sulfate and chondroitin sulfate as found in age-matched controls. " 11/01/1997 - "To measure the levels of sulfotransferase activity for keratan sulfate and chondroitin sulfate in serum of patients with macular corneal dystrophy type I, an inherited disorder that is characterized by the absence of sulfate esters on keratan sulfate in the corneal stroma. "
8.	Amino Acids FDA Link 09/01/2007 - "However, screening of CHST6 in the proband demonstrated a novel homozygous missense mutation involving a highly conserved amino acid (c.518T > C; Leu173Pro) and undetectable serum AgKS levels in the proband confirmed the diagnosis of type I MCDC1. "
9.	SugarsIBA 11/01/1997 - "Patients with macular corneal dystrophy type I have sulfotransferase activity for sulfating at least 1 of the 2 sugars in keratan sulfate. "