U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Granular corneal dystrophy

MedGen UID:
42290
•Concept ID:
C0018179
•
Disease or Syndrome
Synonyms: Corneal Granular Dystrophies; Corneal Granular Dystrophy; Dystrophy, Corneal Granular; Granular Dystrophy, Corneal
SNOMED CT: Granular corneal dystrophy (45283008)
 
HPO: HP:0007802
Monarch Initiative: MONDO:0001490

Definition

The presence of central, fine, whitish granular lesions in the stroma of the cornea. This type of corneal dystrophy is usually asymptomatic and begins in childhood and shows a slow progression. Later in the course, the corneal epithelium and Bowman's layer may be affected. Histologically, the cornea shows a uniform deposition of hyaline material. [from HPO]

Term Hierarchy

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

Conditions with this feature

Groenouw corneal dystrophy type I
MedGen UID:
351521
•Concept ID:
C1641846
•
Disease or Syndrome
Groenouw type I, or granular type I, corneal dystrophy (CDGG1) is an autosomal dominant disorder characterized by irregular aggregates of hyaline material in the corneal stroma. These aggregates can cause significant visual disturbance and may require corneal transplantation for restoration of visual acuity or for relief from recurrent corneal erosions (summary by Stone et al., 1994).
See: Condition Record
Groenouw corneal dystrophy type I

Professional guidelines

PubMed

Mini-Review: Clinical Features and Management of Granular Corneal Dystrophy Type 2.
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
Sequential Custom Therapeutic Keratectomy for the Treatment of Granular Corneal Dystrophy Type 1: A Long-term Study.
Camesasca FI, Vinciguerra R, Legrottaglie EF, Morenghi E, Trazza S, Vinciguerra P
J Refract Surg 2023 Jun;39(6):422-429. Epub 2023 Jun 1 doi: 10.3928/1081597X-20230503-01. PMID: 37306202
Differential diagnosis between granular corneal dystrophy Groenouw type I and paraproteinemic crystalline keratopathy.
Møller HU, Ehlers N, Bojsen-Møller M, Ridgway AE
Acta Ophthalmol (Copenh) 1993 Aug;71(4):552-5. doi: 10.1111/j.1755-3768.1993.tb04635.x. PMID: 8249591

Recent clinical studies

Etiology

Assessment of the corneal biomechanical features of granular corneal dystrophy type 2 using dynamic ultra-high-speed Scheimpflug imaging.
Tanikawa A, Soma T, Miki A, Koh S, Kitaguchi Y, Maeda N, Oie Y, Kawasaki S, Nishida K
Graefes Arch Clin Exp Ophthalmol 2023 Mar;261(3):761-767. Epub 2022 Sep 30 doi: 10.1007/s00417-022-05847-8. PMID: 36178505
Granular corneal dystrophy: an enigma resolved.
Sahay P, Agarwal D, Maharana PK, Titiyal JS
Int Ophthalmol 2019 Jul;39(7):1599-1602. Epub 2018 Jun 25 doi: 10.1007/s10792-018-0971-6. PMID: 29943099
Corneal Higher Order Aberrations in Granular, Lattice and Macular Corneal Dystrophies.
Yagi-Yaguchi Y, Yamaguchi T, Okuyama Y, Satake Y, Tsubota K, Shimazaki J
PLoS One 2016;11(8):e0161075. Epub 2016 Aug 18 doi: 10.1371/journal.pone.0161075. PMID: 27536778Free PMC Article
Pathogenesis and treatments of TGFBI corneal dystrophies.
Han KE, Choi SI, Kim TI, Maeng YS, Stulting RD, Ji YW, Kim EK
Prog Retin Eye Res 2016 Jan;50:67-88. Epub 2015 Nov 28 doi: 10.1016/j.preteyeres.2015.11.002. PMID: 26612778
Clinical and genetic aspects of the TGFBI-associated corneal dystrophies.
Lakshminarayanan R, Chaurasia SS, Anandalakshmi V, Chai SM, Murugan E, Vithana EN, Beuerman RW, Mehta JS
Ocul Surf 2014 Oct;12(4):234-51. Epub 2014 Jul 18 doi: 10.1016/j.jtos.2013.12.002. PMID: 25284770

Diagnosis

Mini-Review: Clinical Features and Management of Granular Corneal Dystrophy Type 2.
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
Assessment of the corneal biomechanical features of granular corneal dystrophy type 2 using dynamic ultra-high-speed Scheimpflug imaging.
Tanikawa A, Soma T, Miki A, Koh S, Kitaguchi Y, Maeda N, Oie Y, Kawasaki S, Nishida K
Graefes Arch Clin Exp Ophthalmol 2023 Mar;261(3):761-767. Epub 2022 Sep 30 doi: 10.1007/s00417-022-05847-8. PMID: 36178505
Granular corneal dystrophy: an enigma resolved.
Sahay P, Agarwal D, Maharana PK, Titiyal JS
Int Ophthalmol 2019 Jul;39(7):1599-1602. Epub 2018 Jun 25 doi: 10.1007/s10792-018-0971-6. PMID: 29943099
Corneal Higher Order Aberrations in Granular, Lattice and Macular Corneal Dystrophies.
Yagi-Yaguchi Y, Yamaguchi T, Okuyama Y, Satake Y, Tsubota K, Shimazaki J
PLoS One 2016;11(8):e0161075. Epub 2016 Aug 18 doi: 10.1371/journal.pone.0161075. PMID: 27536778Free PMC Article
Granular corneal dystrophy Groenouw type I (GrI) and Reis-Bücklers' corneal dystrophy (R-B). One entity?
Møller HU
Acta Ophthalmol (Copenh) 1989 Dec;67(6):678-84. doi: 10.1111/j.1755-3768.1989.tb04401.x. PMID: 2694746

Therapy

Mini-Review: Clinical Features and Management of Granular Corneal Dystrophy Type 2.
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
Exacerbation of Granular Corneal Dystrophy Type 2 After Small Incision Lenticule Extraction.
Kwak JJ, Yoon SH, Seo KY, Kim TI, Lee HK, Stulting RD, Kim EK
Cornea 2021 Apr;40(4):519-524. doi: 10.1097/ICO.0000000000002655. PMID: 33560675Free PMC Article
Post-LASIK exacerbation of granular corneal dystrophy type 2 in members of a chinese family.
Chao-Shern C, Me R, DeDionisio LA, Ke BL, Nesbit MA, Marshall J, Moore CBT
Eye (Lond) 2018 Jan;32(1):39-43. Epub 2017 Dec 1 doi: 10.1038/eye.2017.265. PMID: 29192679Free PMC Article
Clinical findings and treatments of granular corneal dystrophy type 2 (avellino corneal dystrophy): a review of the literature.
Han KE, Kim TI, Chung WS, Choi SI, Kim BY, Kim EK
Eye Contact Lens 2010 Sep;36(5):296-9. doi: 10.1097/ICL.0b013e3181ef0da0. PMID: 20724852
Update on phototherapeutic keratectomy.
Stasi K, Chuck RS
Curr Opin Ophthalmol 2009 Jul;20(4):272-5. doi: 10.1097/ICU.0b013e32832b4f44. PMID: 19381088

Prognosis

Exacerbation of Granular Corneal Dystrophy Type 2 After Small Incision Lenticule Extraction.
Kwak JJ, Yoon SH, Seo KY, Kim TI, Lee HK, Stulting RD, Kim EK
Cornea 2021 Apr;40(4):519-524. doi: 10.1097/ICO.0000000000002655. PMID: 33560675Free PMC Article
Granular type I corneal dystrophy in a large consanguineous Tunisian family with homozygous p.R124S mutation in the TGFBI gene.
Bouyacoub Y, Falfoul Y, Ouederni M, Sayeb M, Chedli A, Chargui M, Sassi H, Chakroun Chenguel I, Munier FL, El Matri L, Abdelhak S, Cheour M
Ophthalmic Genet 2019 Aug;40(4):329-337. Epub 2019 Jul 19 doi: 10.1080/13816810.2019.1639202. PMID: 31322463
Corneal Dystrophy Mutations Drive Pathogenesis by Targeting TGFBIp Stability and Solubility in a Latent Amyloid-forming Domain.
Stenvang M, Schafer NP, Malmos KG, Pérez AW, Niembro O, Sormanni P, Basaiawmoit RV, Christiansen G, Andreasen M, Otzen DE
J Mol Biol 2018 Apr 13;430(8):1116-1140. Epub 2018 Mar 7 doi: 10.1016/j.jmb.2018.03.001. PMID: 29524512
The Oskar Fehr Lecture.
Weiss JS
Klin Monbl Augenheilkd 2016 Jun;233(6):708-12. Epub 2016 Jun 17 doi: 10.1055/s-0042-100735. PMID: 27315290
Granular corneal dystrophy Groenouw type I. Clinical aspects and treatment.
Møller HU
Acta Ophthalmol (Copenh) 1990 Aug;68(4):384-9. doi: 10.1111/j.1755-3768.1990.tb01665.x. PMID: 2220354

Clinical prediction guides

Compound heterozygous mutations in TGFBI cause a severe phenotype of granular corneal dystrophy type 2.
Jun I, Ji YW, Choi SI, Lee BR, Min JS, Kim EK
Sci Rep 2021 Mar 26;11(1):6986. doi: 10.1038/s41598-021-86414-9. PMID: 33772078Free PMC Article
Exacerbation of Granular Corneal Dystrophy Type 2 After Small Incision Lenticule Extraction.
Kwak JJ, Yoon SH, Seo KY, Kim TI, Lee HK, Stulting RD, Kim EK
Cornea 2021 Apr;40(4):519-524. doi: 10.1097/ICO.0000000000002655. PMID: 33560675Free PMC Article
Oxidative Stress, Ocular Disease and Diabetes Retinopathy.
Tangvarasittichai O, Tangvarasittichai S
Curr Pharm Des 2018;24(40):4726-4741. doi: 10.2174/1381612825666190115121531. PMID: 30644339
The Oskar Fehr Lecture.
Weiss JS
Klin Monbl Augenheilkd 2016 Jun;233(6):708-12. Epub 2016 Jun 17 doi: 10.1055/s-0042-100735. PMID: 27315290
Pathogenesis and treatments of TGFBI corneal dystrophies.
Han KE, Choi SI, Kim TI, Maeng YS, Stulting RD, Ji YW, Kim EK
Prog Retin Eye Res 2016 Jan;50:67-88. Epub 2015 Nov 28 doi: 10.1016/j.preteyeres.2015.11.002. PMID: 26612778

Recent systematic reviews

Autophagy modulation in animal models of corneal diseases: a systematic review.
Martínez-Chacón G, Vela FJ, Campos JL, Abellán E, Yakhine-Diop SMS, Ballestín A
Mol Cell Biochem 2020 Nov;474(1-2):41-55. Epub 2020 Jul 24 doi: 10.1007/s11010-020-03832-5. PMID: 32710189

Supplemental Content

Table of contents

    Clinical resources

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

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...