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Hereditary corneal dystrophy

MedGen UID:
3618
•Concept ID:
C0010035
•
Disease or Syndrome
Synonyms: Corneal Dystrophies; Corneal Dystrophies, Hereditary; Corneal Dystrophy; Corneal Dystrophy, Hereditary; Dystrophy, Corneal; Dystrophy, Hereditary Corneal; Hereditary Corneal Dystrophies; Hereditary Corneal Dystrophy
SNOMED CT: Hereditary corneal dystrophy (77797009)

Definition

A family of inherited disorders characterized by the gradual, progressive accumulation of extraneous material on one or both corneas, which, without proper treatment, can impair vision. [from NCI]

Term Hierarchy

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

Professional guidelines

PubMed

Topical Losartan: Practical Guidance for Clinical Trials in the Prevention and Treatment of Corneal Scarring Fibrosis and Other Eye Diseases and Disorders.
Wilson SE
J Ocul Pharmacol Ther 2023 Apr;39(3):191-206. Epub 2023 Mar 6 doi: 10.1089/jop.2022.0174. PMID: 36877777Free PMC Article
Update on the Corneal Dystrophies-Genetic Testing and Therapy.
Weiss JS, Willoughby CE, Abad-Morales V, Turunen JA, Lisch W
Cornea 2022 Nov 1;41(11):1337-1344. Epub 2022 Jul 4 doi: 10.1097/ICO.0000000000002857. PMID: 36219210
Genetic Testing in Pediatric Ophthalmology.
Verma IC, Paliwal P, Singh K
Indian J Pediatr 2018 Mar;85(3):228-236. Epub 2017 Oct 2 doi: 10.1007/s12098-017-2453-7. PMID: 28971364

Recent clinical studies

Etiology

Pediatric penetrating keratoplasty: indications and outcomes.
Limaiem R, Chebil A, Baba A, Ben Youssef N, Mghaieth F, El Matri L
Transplant Proc 2011 Mar;43(2):649-51. doi: 10.1016/j.transproceed.2011.01.055. PMID: 21440785
Avastin use in high risk corneal transplantation.
Vassileva PI, Hergeldzhieva TG
Graefes Arch Clin Exp Ophthalmol 2009 Dec;247(12):1701-6. Epub 2009 Aug 13 doi: 10.1007/s00417-009-1170-y. PMID: 19680676
Recurrence of hereditary corneal dystrophy following keratoplasty.
Herman SJ, Hughes WF
Am J Ophthalmol 1973 Apr;75(4):689-94. doi: 10.1016/0002-9394(73)90822-2. PMID: 4572335

Diagnosis

Autosomal recessive congenital hereditary corneal dystrophy associated with a novel SLC4A11 mutation in two consanguineous Tunisian families.
Chibani Z, Abid IZ, Söderkvist P, Feki J, Aifa MH
Br J Ophthalmol 2022 Feb;106(2):281-287. Epub 2021 Apr 20 doi: 10.1136/bjophthalmol-2020-318204. PMID: 33879471
Unilateral corneal edema in young: A diagnostic dilemma.
Angmo D, Selvan H, Behera AK, Suman PK
Indian J Ophthalmol 2018 Nov;66(11):1612-1614. doi: 10.4103/ijo.IJO_564_18. PMID: 30355874Free PMC Article
A novel decorin gene mutation in congenital hereditary stromal dystrophy: a Korean family.
Lee JH, Ki CS, Chung ES, Chung TY
Korean J Ophthalmol 2012 Aug;26(4):301-5. Epub 2012 Jul 24 doi: 10.3341/kjo.2012.26.4.301. PMID: 22870031Free PMC Article
Congenital hereditary corneal dystrophy associated with esotropia.
Biedner B, Mer Y, Sachs U
J Pediatr Ophthalmol Strabismus 1979 Sep-Oct;16(5):306-7. doi: 10.3928/0191-3913-19790901-09. PMID: 316006
Histology of congenital hereditary corneal dystrophy.
Antine B
Am J Ophthalmol 1970 Jun;69(6):964-9. doi: 10.1016/0002-9394(70)91039-1. PMID: 5310439

Therapy

Avastin use in high risk corneal transplantation.
Vassileva PI, Hergeldzhieva TG
Graefes Arch Clin Exp Ophthalmol 2009 Dec;247(12):1701-6. Epub 2009 Aug 13 doi: 10.1007/s00417-009-1170-y. PMID: 19680676
The heterogeneity of microphthalmia in the mentally retarded.
Warburg M
Birth Defects Orig Artic Ser 1971 Mar;7(3):136-54. PMID: 4950916

Prognosis

Association of macular corneal dystrophy with excessive cell senescence and apoptosis induced by the novel mutant CHST6.
Hao XD, Liu YN, Hu SH, Pan XJ, Chen P
Exp Eye Res 2022 Jan;214:108862. Epub 2021 Nov 24 doi: 10.1016/j.exer.2021.108862. PMID: 34826417
Pediatric penetrating keratoplasty: indications and outcomes.
Limaiem R, Chebil A, Baba A, Ben Youssef N, Mghaieth F, El Matri L
Transplant Proc 2011 Mar;43(2):649-51. doi: 10.1016/j.transproceed.2011.01.055. PMID: 21440785
Avastin use in high risk corneal transplantation.
Vassileva PI, Hergeldzhieva TG
Graefes Arch Clin Exp Ophthalmol 2009 Dec;247(12):1701-6. Epub 2009 Aug 13 doi: 10.1007/s00417-009-1170-y. PMID: 19680676
Recurrence of hereditary corneal dystrophy following keratoplasty.
Herman SJ, Hughes WF
Am J Ophthalmol 1973 Apr;75(4):689-94. doi: 10.1016/0002-9394(73)90822-2. PMID: 4572335

Clinical prediction guides

Association of macular corneal dystrophy with excessive cell senescence and apoptosis induced by the novel mutant CHST6.
Hao XD, Liu YN, Hu SH, Pan XJ, Chen P
Exp Eye Res 2022 Jan;214:108862. Epub 2021 Nov 24 doi: 10.1016/j.exer.2021.108862. PMID: 34826417
Pediatric penetrating keratoplasty: indications and outcomes.
Limaiem R, Chebil A, Baba A, Ben Youssef N, Mghaieth F, El Matri L
Transplant Proc 2011 Mar;43(2):649-51. doi: 10.1016/j.transproceed.2011.01.055. PMID: 21440785
Avastin use in high risk corneal transplantation.
Vassileva PI, Hergeldzhieva TG
Graefes Arch Clin Exp Ophthalmol 2009 Dec;247(12):1701-6. Epub 2009 Aug 13 doi: 10.1007/s00417-009-1170-y. PMID: 19680676
Endothelial alterations in congenital corneal dystrophies.
Rodrigues MM, Waring GO, Laibson PR, Weinreb S
Am J Ophthalmol 1975 Oct;80(4):678-89. doi: 10.1016/0002-9394(75)90400-6. PMID: 1080955

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