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Groenouw corneal dystrophy type I(CDGG1)

MedGen UID:
351521
•Concept ID:
C1641846
•
Disease or Syndrome
Synonyms: CDGG1; Corneal dystrophy punctate or nodular; GRANULAR CORNEAL DYSTROPHY, TYPE I
SNOMED CT: Groenouw corneal dystrophy type I (419039007); Granular corneal dystrophy type I (419039007)
Modes of inheritance:
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.
Autosomal dominant inheritance (Orphanet)
 
Gene (location): TGFBI (5q31.1)
 
Monarch Initiative: MONDO:0007377
OMIM®: 121900
Orphanet: ORPHA98962

Definition

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). [from OMIM]

Clinical features

From HPO
Granular corneal dystrophy
MedGen UID:
42290
•Concept ID:
C0018179
•
Disease or Syndrome
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.
See: Feature record | Search on this feature
Strabismus
MedGen UID:
21337
•Concept ID:
C0038379
•
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
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Cataract
MedGen UID:
39462
•Concept ID:
C0086543
•
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
See: Feature record | Search on this feature
Nodular corneal dystrophy
MedGen UID:
870348
•Concept ID:
C4024792
•
Finding
See: Feature record | Search on this feature
Punctate corneal dystrophy
MedGen UID:
870352
•Concept ID:
C4024796
•
Anatomical Abnormality
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGroenouw corneal dystrophy type I
Follow this link to review classifications for Groenouw corneal dystrophy type I in Orphanet.

Professional guidelines

PubMed

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

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
Recurrence of Granular Corneal Dystrophy Type 1 After Phototherapeutic Keratectomy, Lamellar Keratoplasty, and Penetrating Keratoplasty in a Single Population.
Lewis DR, Price MO, Feng MT, Price FW Jr
Cornea 2017 Oct;36(10):1227-1232. doi: 10.1097/ICO.0000000000001303. PMID: 28749898
Phototherapeutic keratectomy for recurrent granular dystrophy in postpenetrating keratoplasty eyes.
Rathi VM, Taneja M, Murthy SI, Bagga B, Vaddavalli PK, Sangwan VS
Indian J Ophthalmol 2016 Feb;64(2):140-4. doi: 10.4103/0301-4738.179715. PMID: 27050350Free PMC Article
On the role of kerato-epithelin in the pathogenesis of 5q31-linked corneal dystrophies.
Korvatska E, Munier FL, Chaubert P, Wang MX, Mashima Y, Yamada M, Uffer S, Zografos L, Schorderet DF
Invest Ophthalmol Vis Sci 1999 Sep;40(10):2213-9. PMID: 10476785
Mutation hot spots in 5q31-linked corneal dystrophies.
Korvatska E, Munier FL, Djemaï A, Wang MX, Frueh B, Chiou AG, Uffer S, Ballestrazzi E, Braunstein RE, Forster RK, Culbertson WW, Boman H, Zografos L, Schorderet DF
Am J Hum Genet 1998 Feb;62(2):320-4. doi: 10.1086/301720. PMID: 9463327Free PMC Article

Diagnosis

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
Phototherapeutic keratectomy for recurrent granular dystrophy in postpenetrating keratoplasty eyes.
Rathi VM, Taneja M, Murthy SI, Bagga B, Vaddavalli PK, Sangwan VS
Indian J Ophthalmol 2016 Feb;64(2):140-4. doi: 10.4103/0301-4738.179715. PMID: 27050350Free PMC Article
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
Granular corneal dystrophy Groenouw type I. Clinical and genetic aspects.
Møller HU
Acta Ophthalmol Suppl (1985) 1991;(198):1-40. PMID: 1651039
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

Recurrence of Granular Corneal Dystrophy Type 1 After Phototherapeutic Keratectomy, Lamellar Keratoplasty, and Penetrating Keratoplasty in a Single Population.
Lewis DR, Price MO, Feng MT, Price FW Jr
Cornea 2017 Oct;36(10):1227-1232. doi: 10.1097/ICO.0000000000001303. PMID: 28749898
Phototherapeutic keratectomy for recurrent granular dystrophy in postpenetrating keratoplasty eyes.
Rathi VM, Taneja M, Murthy SI, Bagga B, Vaddavalli PK, Sangwan VS
Indian J Ophthalmol 2016 Feb;64(2):140-4. doi: 10.4103/0301-4738.179715. PMID: 27050350Free PMC Article
Recurrence of granular corneal dystrophy type I deposits within host stroma after non-descemet baring anterior lamellar keratoplasty.
Pantanelli SM, Herzlich A, Yeaney G, Ching ST
Cornea 2014 Dec;33(12):1348-51. doi: 10.1097/ICO.0000000000000267. PMID: 25285586

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
Phototherapeutic keratectomy for recurrent granular dystrophy in postpenetrating keratoplasty eyes.
Rathi VM, Taneja M, Murthy SI, Bagga B, Vaddavalli PK, Sangwan VS
Indian J Ophthalmol 2016 Feb;64(2):140-4. doi: 10.4103/0301-4738.179715. PMID: 27050350Free PMC Article
Granular corneal dystrophy Groenouw type I. A report of a probable homozygous patient.
Møller HU, Ridgway AE
Acta Ophthalmol (Copenh) 1990 Feb;68(1):97-101. doi: 10.1111/j.1755-3768.1990.tb01658.x. PMID: 2336942
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
Inter-familial variability and intra-familial similarities of granular corneal dystrophy Groenouw type I with respect to biomicroscopical appearance and symptomatology.
Møller HU
Acta Ophthalmol (Copenh) 1989 Dec;67(6):669-77. doi: 10.1111/j.1755-3768.1989.tb04400.x. PMID: 2618635

Clinical prediction guides

Mutation effects on FAS1 domain 4 based on structure and solubility.
Kim D, Chong SH, Shin S, Ham S
Biochim Biophys Acta Proteins Proteom 2022 Mar 1;1870(3):140746. Epub 2021 Dec 20 doi: 10.1016/j.bbapap.2021.140746. PMID: 34942360
Genotypic Homogeneity in Distinctive Transforming Growth Factor-Beta Induced (TGFBI) Protein Phenotypes.
Han SB, Anandalakshmi V, Wong CW, Ng SR, Mehta JS
Int J Mol Sci 2021 Jan 27;22(3) doi: 10.3390/ijms22031230. PMID: 33513810Free PMC Article
Protein Composition of TGFBI-R124C- and TGFBI-R555W-Associated Aggregates Suggests Multiple Mechanisms Leading to Lattice and Granular Corneal Dystrophy.
Courtney DG, Poulsen ET, Kennedy S, Moore JE, Atkinson SD, Maurizi E, Nesbit MA, Moore CB, Enghild JJ
Invest Ophthalmol Vis Sci 2015 Jul;56(8):4653-61. doi: 10.1167/iovs.15-16922. PMID: 26207300
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
Early treatment of granular dystrophy (Groenouw type I).
Møller HU, Ehlers N
Acta Ophthalmol (Copenh) 1985 Oct;63(5):597-600. doi: 10.1111/j.1755-3768.1985.tb05252.x. PMID: 3907260

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    • ClinVar
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      Clinical tests in GTR
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      Related records in OMIM
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