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Marginal corneal dystrophy

MedGen UID:
870335
Concept ID:
C4024779
Disease or Syndrome
HPO: HP:0007880

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMarginal corneal dystrophy

Conditions with this feature

Bietti crystalline corneoretinal dystrophy
MedGen UID:
347895
Concept ID:
C1859486
Disease or Syndrome
Bietti crystalline dystrophy (BCD) is a chorioretinal degeneration characterized by the presence of yellow-white crystals and/or complex lipid deposits in the retina and (to a variable degree) the cornea. Progressive atrophy and degeneration of the retinal pigment epithelium (RPE) / choroid lead to symptoms similar to those of other forms of retinal degeneration that fall under the category of retinitis pigmentosa and allied disorders, namely: reduced visual acuity, poor night vision, abnormal retinal electrophysiology, visual field loss, and often impaired color vision. Marked asymmetry between eyes is not uncommon. Onset is typically during the second to third decade of life, but ranges from the early teenage years to beyond the third decade. With time, loss of peripheral visual field, central acuity, or both result in legal blindness in most if not all affected individuals.

Professional guidelines

PubMed

Ruutila M, Fagerholm P, Lagali N, Hjortdal J, Bram T, Moilanen J, Kivelä TT
Cornea 2021 Feb 1;40(2):133-141. doi: 10.1097/ICO.0000000000002427. PMID: 33155577
Yong JJ, Hatch KM
Semin Ophthalmol 2019;34(7-8):512-517. Epub 2019 Aug 26 doi: 10.1080/08820538.2019.1659832. PMID: 31449434
Tzelikis PF, Cohen EJ, Rapuano CJ, Hammersmith KM, Laibson PR
Cornea 2005 Jul;24(5):555-60. doi: 10.1097/01.ico.0000153555.82278.5b. PMID: 15968160

Recent clinical studies

Diagnosis

Mauldin WM, O'Connor PS
Am J Ophthalmol 1981 Nov;92(5):640-6. doi: 10.1016/s0002-9394(14)74655-0. PMID: 7304691

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