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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

Villarrubia Cuadrado A, Sánchez-Ventosa Á, Villalba-González M, Palacín Miranda E, López Pérez MD, Castillo Eslava R, González-Cruces T, Cano-Ortiz A
Cornea 2024 Oct 1;43(10):1291-1299. Epub 2024 Apr 30 doi: 10.1097/ICO.0000000000003551. PMID: 38692690
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

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
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
Ganger A, Gupta N, Tomar AS, Vanathi M, Tandon R
Trop Doct 2018 Jul;48(3):199-206. Epub 2017 Oct 17 doi: 10.1177/0049475517736709. PMID: 29041837

Therapy

Villarrubia Cuadrado A, Sánchez-Ventosa Á, Villalba-González M, Palacín Miranda E, López Pérez MD, Castillo Eslava R, González-Cruces T, Cano-Ortiz A
Cornea 2024 Oct 1;43(10):1291-1299. Epub 2024 Apr 30 doi: 10.1097/ICO.0000000000003551. PMID: 38692690
Berger T, Hasenfus A, Bredrup C, Gatzioufas Z, Flockerzi F, Käsmann-Kellner B, Daas L, Flockerzi E, Knappskog PM, Stang E, Seitz B
Cornea 2024 Jun 1;43(6):784-789. Epub 2024 Mar 5 doi: 10.1097/ICO.0000000000003519. PMID: 38437155
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

Prognosis

Braddock FL, Gardner JC, Bhattacharyya N, Sanchez-Pintado B, Costa M, Zarouchlioti C, Szabo A, Lišková P, Cheetham ME, Young RD, Thaung C, Davidson AE, Tuft SJ, Hardcastle AJ
Eur J Hum Genet 2024 Dec;32(12):1583-1589. Epub 2024 Aug 21 doi: 10.1038/s41431-024-01687-8. PMID: 39169229
Villarrubia Cuadrado A, Sánchez-Ventosa Á, Villalba-González M, Palacín Miranda E, López Pérez MD, Castillo Eslava R, González-Cruces T, Cano-Ortiz A
Cornea 2024 Oct 1;43(10):1291-1299. Epub 2024 Apr 30 doi: 10.1097/ICO.0000000000003551. PMID: 38692690
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
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

Clinical prediction guides

Braddock FL, Gardner JC, Bhattacharyya N, Sanchez-Pintado B, Costa M, Zarouchlioti C, Szabo A, Lišková P, Cheetham ME, Young RD, Thaung C, Davidson AE, Tuft SJ, Hardcastle AJ
Eur J Hum Genet 2024 Dec;32(12):1583-1589. Epub 2024 Aug 21 doi: 10.1038/s41431-024-01687-8. PMID: 39169229
Villarrubia Cuadrado A, Sánchez-Ventosa Á, Villalba-González M, Palacín Miranda E, López Pérez MD, Castillo Eslava R, González-Cruces T, Cano-Ortiz A
Cornea 2024 Oct 1;43(10):1291-1299. Epub 2024 Apr 30 doi: 10.1097/ICO.0000000000003551. PMID: 38692690
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
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
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

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