Mini-Review: Clinical Features and Management of Granular Corneal Dystrophy Type 2.


Journal

Korean journal of ophthalmology : KJO
ISSN: 2092-9382
Titre abrégé: Korean J Ophthalmol
Pays: Korea (South)
ID NLM: 8804513

Informations de publication

Date de publication:
08 2023
Historique:
received: 17 03 2023
accepted: 23 05 2023
medline: 14 8 2023
pubmed: 20 6 2023
entrez: 19 6 2023
Statut: ppublish

Résumé

Granular corneal dystrophy type 2 (GCD2) is an autosomal dominant corneal stromal dystrophy that is caused by p.Arg124His mutation of transforming growth factor β induced (TGFBI) gene. It is characterized by well demarcated granular shaped opacities in central anterior stroma and as the disease progresses, extrusion of the deposits results in ocular pain due to corneal epithelial erosion. Also, diffuse corneal haze which appears late, causes decrease in visual acuity. The prevalence of GCD2 is high in East Asia including Korea. Homozygous patients show a severe phenotype from an early age, and the heterozygote phenotype varies among patients, depending on several types of compound heterozygous TGFBI mutations. In the initial stage, conservative treatments such as artificial tears, antibiotic eye drops, and bandage contact lenses are used to treat corneal erosion. Different surgical methods are used depending on the depth and extent of the stromal deposits. Phototherapeutic keratectomy removes anterior opacities and is advantageous in terms of its applicability and repeatability. For deeper lesions, deep anterior lamellar keratoplasty can be used as the endothelial layer is not always affected. Recurrence following these treatments are reported within a wide range of rates in different studies due to varying definition of recurrence and follow-up period. In patients who have undergone corneal laser vision-correction surgeries such as photorefractive keratectomy, LASEK, or LASIK including SMILE surgery, corneal opacity exacerbates rapidly with severe deterioration of visual acuity. Further investigations on new treatments of GCD2 are necessary.

Identifiants

pubmed: 37336511
pii: kjo.2023.0032
doi: 10.3341/kjo.2023.0032
pmc: PMC10427907
doi:

Substances chimiques

Transforming Growth Factor beta 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

340-347

Subventions

Organisme : National Research Foundation of Korea
ID : 2021R1I1A1A01047951
Organisme : Minsitry of Science and ICT
Organisme : Korean Fund for Regenerative Medicine
ID : 22C0615L1
Organisme : Ministry of Health and Welfare

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Auteurs

Myung Soo Chang (MS)

Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea.

Ikhyun Jun (I)

Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea.
Corneal Dystrophy Research Institute, Yonsei University College of Medicine, Seoul, Korea.

Eung Kweon Kim (EK)

Corneal Dystrophy Research Institute, Yonsei University College of Medicine, Seoul, Korea.
Saevit Eye Hospital, Goyang, Korea.

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Classifications MeSH