U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Stromal corneal dystrophy

MedGen UID:
20973
Concept ID:
C0038457
Disease or Syndrome
Synonyms: Corneal Stromal Dystrophies; Corneal Stromal Dystrophy; Dystrophy, Corneal Stromal; Stromal Dystrophies, Corneal; Stromal Dystrophy, Corneal
SNOMED CT: Stromal corneal dystrophy (231931001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0020213
Orphanet: ORPHA98626

Definition

The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy. [from ORDO]

Professional guidelines

PubMed

Chang MS, Jun I, Kim EK
Korean J Ophthalmol 2023 Aug;37(4):340-347. Epub 2023 Jun 19 doi: 10.3341/kjo.2023.0032. PMID: 37336511Free PMC Article
Dursun D, Kim MC, Solomon A, Pflugfelder SC
Am J Ophthalmol 2001 Jul;132(1):8-13. doi: 10.1016/s0002-9394(01)00913-8. PMID: 11438047

Recent clinical studies

Etiology

Gómez-Calleja V, Burgos-Blasco B, Méndez-Fernández R, Pérez-García P, Ariño-Gutiérrez M, Borrego-Sanz L, Colino Gallardo AM, Díaz-Valle D
J Fr Ophtalmol 2024 Apr;47(4):104138. Epub 2024 Mar 13 doi: 10.1016/j.jfo.2024.104138. PMID: 38484481
Kodavoor SK, Deb B, Ramamurthy D
Indian J Ophthalmol 2019 Nov;67(11):1830-1833. doi: 10.4103/ijo.IJO_1623_18. PMID: 31638043Free PMC Article
Naz S, Sharif S, Kaul H, Kaleem A, Tehseen A
J Pak Med Assoc 2018 Apr;68(4):663-665. PMID: 29808064
Szentmáry N, Langenbucher A, Hafner A, Seitz B
Am J Ophthalmol 2004 Feb;137(2):301-7. doi: 10.1016/j.ajo.2003.08.039. PMID: 14962421
Nguyen NX, Langenbucher A, Seitz B, Graupner M, Cursiefen C, Küchle M, Naumann GO
Graefes Arch Clin Exp Ophthalmol 2001 Feb;239(2):114-7. doi: 10.1007/s004170000244. PMID: 11372539

Diagnosis

Gómez-Calleja V, Burgos-Blasco B, Méndez-Fernández R, Pérez-García P, Ariño-Gutiérrez M, Borrego-Sanz L, Colino Gallardo AM, Díaz-Valle D
J Fr Ophtalmol 2024 Apr;47(4):104138. Epub 2024 Mar 13 doi: 10.1016/j.jfo.2024.104138. PMID: 38484481
Williams D, Chung DD, Hovakimyan A, Davtyan A, Glasgow BJ, Aldave AJ
Cornea 2023 Apr 1;42(4):464-469. Epub 2022 Dec 19 doi: 10.1097/ICO.0000000000003167. PMID: 36534610
Irusteta L, Ramírez-Miranda A, Navas-Pérez A, Montes-Almanza L, Arteaga J, García-Martínez F, Graue-Hernández E, Zenteno JC
Ophthalmic Genet 2022 Oct;43(5):589-593. Epub 2022 Apr 26 doi: 10.1080/13816810.2022.2068047. PMID: 35470743
Lisch W, Weiss JS
Exp Eye Res 2019 Sep;186:107715. Epub 2019 Jul 10 doi: 10.1016/j.exer.2019.107715. PMID: 31301286
Zemba M, Neacsa R, Cucu BI
Rom J Ophthalmol 2018 Apr-Jun;62(2):175-180. PMID: 30206563Free PMC Article

Therapy

Alafaleq M, Knoeri J, Boutboul S, Borderie V
Eur J Ophthalmol 2021 Sep;31(5):2313-2318. Epub 2020 Oct 30 doi: 10.1177/1120672120968724. PMID: 33124478
Sridhar U, Tripathy K, Bansal Y
Indian J Ophthalmol 2020 Dec;68(12):3038-3040. doi: 10.4103/ijo.IJO_975_20. PMID: 33229698Free PMC Article
Szentmáry N, Langenbucher A, Hafner A, Seitz B
Am J Ophthalmol 2004 Feb;137(2):301-7. doi: 10.1016/j.ajo.2003.08.039. PMID: 14962421
Nguyen NX, Langenbucher A, Seitz B, Graupner M, Cursiefen C, Küchle M, Naumann GO
Graefes Arch Clin Exp Ophthalmol 2001 Feb;239(2):114-7. doi: 10.1007/s004170000244. PMID: 11372539

Prognosis

Williams D, Chung DD, Hovakimyan A, Davtyan A, Glasgow BJ, Aldave AJ
Cornea 2023 Apr 1;42(4):464-469. Epub 2022 Dec 19 doi: 10.1097/ICO.0000000000003167. PMID: 36534610
Kodavoor SK, Deb B, Ramamurthy D
Indian J Ophthalmol 2019 Nov;67(11):1830-1833. doi: 10.4103/ijo.IJO_1623_18. PMID: 31638043Free PMC Article
Correa-Gomez V, Villalvazo-Cordero L, Zenteno JC
Mol Vis 2007 Sep 17;13:1695-700. PMID: 17893671
Rødahl E, Van Ginderdeuren R, Knappskog PM, Bredrup C, Boman H
Am J Ophthalmol 2006 Sep;142(3):520-1. doi: 10.1016/j.ajo.2006.03.064. PMID: 16935612
Nguyen NX, Langenbucher A, Seitz B, Graupner M, Cursiefen C, Küchle M, Naumann GO
Graefes Arch Clin Exp Ophthalmol 2001 Feb;239(2):114-7. doi: 10.1007/s004170000244. PMID: 11372539

Clinical prediction guides

Williams D, Chung DD, Hovakimyan A, Davtyan A, Glasgow BJ, Aldave AJ
Cornea 2023 Apr 1;42(4):464-469. Epub 2022 Dec 19 doi: 10.1097/ICO.0000000000003167. PMID: 36534610
Alafaleq M, Knoeri J, Boutboul S, Borderie V
Eur J Ophthalmol 2021 Sep;31(5):2313-2318. Epub 2020 Oct 30 doi: 10.1177/1120672120968724. PMID: 33124478
Mellgren AE, Bruland O, Vedeler A, Saraste J, Schönheit J, Bredrup C, Knappskog PM, Rødahl E
Invest Ophthalmol Vis Sci 2015 May;56(5):2909-15. doi: 10.1167/iovs.14-16014. PMID: 26029887
Correa-Gomez V, Villalvazo-Cordero L, Zenteno JC
Mol Vis 2007 Sep 17;13:1695-700. PMID: 17893671
Rødahl E, Van Ginderdeuren R, Knappskog PM, Bredrup C, Boman H
Am J Ophthalmol 2006 Sep;142(3):520-1. doi: 10.1016/j.ajo.2006.03.064. PMID: 16935612

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...