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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
Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy.
Long Y, Gu YS, Han W, Li XY, Yu P, Qi M
J Zhejiang Univ Sci B 2011 Apr;12(4):287-92. doi: 10.1631/jzus.B1000154. PMID: 21462384Free PMC Article

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
Refractive Outcomes After Phototherapeutic Refractive Keratectomy for Granular Corneal Dystrophy.
Nakamura T, Kataoka T, Kojima T, Yoshida Y, Sugiyama Y
Cornea 2018 May;37(5):548-553. doi: 10.1097/ICO.0000000000001548. PMID: 29474295
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

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

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
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
The Role of the Reactive Oxygen Species and Oxidative Stress in the Pathomechanism of the Age-Related Ocular Diseases and Other Pathologies of the Anterior and Posterior Eye Segments in Adults.
Nita M, Grzybowski A
Oxid Med Cell Longev 2016;2016:3164734. Epub 2016 Jan 10 doi: 10.1155/2016/3164734. PMID: 26881021Free PMC Article
Granular corneal dystrophy. Visual results and pattern of recurrence after lamellar or penetrating keratoplasty.
Lyons CJ, McCartney AC, Kirkness CM, Ficker LA, Steele AD, Rice NS
Ophthalmology 1994 Nov;101(11):1812-7. doi: 10.1016/s0161-6420(94)31096-7. PMID: 7800362
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

Reduced OPA1, Mitochondrial Fragmentation and Increased Susceptibility to Apoptosis in Granular Corneal Dystrophy Type 2 Corneal Fibroblasts.
Choi SI, Lee GH, Woo JH, Jun I, Kim EK
Genes (Basel) 2023 Feb 24;14(3) doi: 10.3390/genes14030566. PMID: 36980838Free PMC Article
Torin 1 alleviates impairment of TFEB-mediated lysosomal biogenesis and autophagy in TGFBI (p.G623_H626del)-linked Thiel-Behnke corneal dystrophy.
Wang L, Zhao C, Zheng T, Zhang Y, Liu H, Wang X, Tang X, Zhao B, Liu P
Autophagy 2022 Apr;18(4):765-782. Epub 2021 Aug 17 doi: 10.1080/15548627.2021.1955469. PMID: 34403298Free 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
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
A unique TGFBI protein in granular corneal dystrophy types 1 and 2.
Han YP, Sim AJ, Vora SC, Huang AJ
Curr Eye Res 2012 Nov;37(11):990-6. Epub 2012 Jun 29 doi: 10.3109/02713683.2012.700752. PMID: 22746317Free PMC Article

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

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