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Corneal Endothelial Dystrophy 1

MedGen UID:
503113
•Concept ID:
C3502718
•
Disease or Syndrome

Recent clinical studies

Etiology

Descemet Endothelial Thickness Comparison Trial: A Randomized Trial Comparing Ultrathin Descemet Stripping Automated Endothelial Keratoplasty with Descemet Membrane Endothelial Keratoplasty.
Chamberlain W, Lin CC, Austin A, Schubach N, Clover J, McLeod SD, Porco TC, Lietman TM, Rose-Nussbaumer J
Ophthalmology 2019 Jan;126(1):19-26. Epub 2018 Jun 23 doi: 10.1016/j.ophtha.2018.05.019. PMID: 29945801
Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome.
Siddiqui S, Zenteno JC, Rice A, Chacón-Camacho O, Naylor SG, Rivera-de la Parra D, Spokes DM, James N, Toomes C, Inglehearn CF, Ali M
Cornea 2014 Mar;33(3):247-51. doi: 10.1097/ICO.0000000000000041. PMID: 24351571Free PMC Article

Diagnosis

Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome.
Siddiqui S, Zenteno JC, Rice A, Chacón-Camacho O, Naylor SG, Rivera-de la Parra D, Spokes DM, James N, Toomes C, Inglehearn CF, Ali M
Cornea 2014 Mar;33(3):247-51. doi: 10.1097/ICO.0000000000000041. PMID: 24351571Free PMC Article
Genetics of the corneal endothelial dystrophies: an evidence-based review.
Aldave AJ, Han J, Frausto RF
Clin Genet 2013 Aug;84(2):109-19. Epub 2013 Jun 10 doi: 10.1111/cge.12191. PMID: 23662738Free PMC Article

Therapy

Descemet Endothelial Thickness Comparison Trial: A Randomized Trial Comparing Ultrathin Descemet Stripping Automated Endothelial Keratoplasty with Descemet Membrane Endothelial Keratoplasty.
Chamberlain W, Lin CC, Austin A, Schubach N, Clover J, McLeod SD, Porco TC, Lietman TM, Rose-Nussbaumer J
Ophthalmology 2019 Jan;126(1):19-26. Epub 2018 Jun 23 doi: 10.1016/j.ophtha.2018.05.019. PMID: 29945801

Prognosis

Descemet Endothelial Thickness Comparison Trial: A Randomized Trial Comparing Ultrathin Descemet Stripping Automated Endothelial Keratoplasty with Descemet Membrane Endothelial Keratoplasty.
Chamberlain W, Lin CC, Austin A, Schubach N, Clover J, McLeod SD, Porco TC, Lietman TM, Rose-Nussbaumer J
Ophthalmology 2019 Jan;126(1):19-26. Epub 2018 Jun 23 doi: 10.1016/j.ophtha.2018.05.019. PMID: 29945801

Clinical prediction guides

Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome.
Siddiqui S, Zenteno JC, Rice A, Chacón-Camacho O, Naylor SG, Rivera-de la Parra D, Spokes DM, James N, Toomes C, Inglehearn CF, Ali M
Cornea 2014 Mar;33(3):247-51. doi: 10.1097/ICO.0000000000000041. PMID: 24351571Free PMC Article

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