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Syndromic corneal dystrophy

MedGen UID:: 1842949
•Concept ID:: C5681673
•: Disease or Syndrome

Orphanet:

ORPHA98628

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Phenotypic abnormality
- Abnormality of the eye
  - Abnormal eye morphology
    - Abnormal anterior eye segment morphology
      - Abnormal cornea morphology
        Corneal dystrophy
        Syndromic corneal dystrophy
        Brittle cornea syndrome
        Brittle cornea syndrome 1
        Brittle cornea syndrome 2
        Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
        Corneal dystrophy-perceptive deafness syndrome
        Corneal-cerebellar syndrome
        de Barsy syndrome
        ALDH18A1-related de Barsy syndrome
        PYCR1-related de Barsy syndrome
        Francois syndrome
        Iridocorneal endothelial syndrome
        Chandler syndrome
        Cogan-Reese syndrome
        Essential iris atrophy
        LCAT deficiency
        Fish-eye disease
        Norum disease
        Meretoja syndrome
        Mietens syndrome
        Ocular cystinosis
        Oculodental syndrome, Rutherfurd type
        Ophthalmomandibulomelic dysplasia
        Spastic ataxia-corneal dystrophy syndrome
        Spondylometaphyseal dysplasia with corneal dystrophy
        Stern-Lubinsky-Durrie syndrome
        X-linked corneal dermoid
        X-linked ichthyosis with steryl-sulfatase deficiency
        X-linked reticulate pigmentary disorder

Professional guidelines

PubMed

Contact lenses for the treatment of ocular surface diseases.

Sharma N, Sah R, Priyadarshini K, Titiyal JS
Indian J Ophthalmol 2023 Apr;71(4):1135-1141. doi: 10.4103/IJO.IJO_17_23. PMID: 37026245 Free PMC Article

Topical Losartan: Practical Guidance for Clinical Trials in the Prevention and Treatment of Corneal Scarring Fibrosis and Other Eye Diseases and Disorders.

Wilson SE
J Ocul Pharmacol Ther 2023 Apr;39(3):191-206. Epub 2023 Mar 6 doi: 10.1089/jop.2022.0174. PMID: 36877777 Free PMC Article

Congenital Corneal Anesthesia and Neurotrophic Keratitis: Diagnosis and Management.

Mantelli F, Nardella C, Tiberi E, Sacchetti M, Bruscolini A, Lambiase A
Biomed Res Int 2015;2015:805876. Epub 2015 Sep 16 doi: 10.1155/2015/805876. PMID: 26451380 Free PMC Article

See all (17)

Recent clinical studies

Etiology

Genetic predisposition to ocular surface disorders and opportunities for gene-based therapies.

Roshandel D, Semnani F, Rayati Damavandi A, Masoudi A, Baradaran-Rafii A, Watson SL, Morgan WH, McLenachan S
Ocul Surf 2023 Jul;29:150-165. Epub 2023 May 14 doi: 10.1016/j.jtos.2023.05.003. PMID: 37192706

Epithelial thickness mapping for corneal refractive surgery.

Reinstein DZ, Archer TJ, Vida RS
Curr Opin Ophthalmol 2022 Jul 1;33(4):258-268. doi: 10.1097/ICU.0000000000000867. PMID: 35779050

Corneal Sensitivity and Tear Function in Recurrent Corneal Erosion Syndrome.

Kang EY, Chen HT, Hsueh YJ, Chen HC, Tan HY, Hsiao CH, Yeh LK, Wu WC
Invest Ophthalmol Vis Sci 2020 Mar 9;61(3):21. doi: 10.1167/iovs.61.3.21. PMID: 32181797 Free PMC Article

Congenital Corneal Anesthesia and Neurotrophic Keratitis: Diagnosis and Management.

Mantelli F, Nardella C, Tiberi E, Sacchetti M, Bruscolini A, Lambiase A
Biomed Res Int 2015;2015:805876. Epub 2015 Sep 16 doi: 10.1155/2015/805876. PMID: 26451380 Free PMC Article

Flecked retina disorders.

De Laey JJ
Bull Soc Belge Ophtalmol 1993;249:11-22. PMID: 7952338

See all (149)

Diagnosis

Artificial intelligence and corneal diseases.

Kang L, Ballouz D, Woodward MA
Curr Opin Ophthalmol 2022 Sep 1;33(5):407-417. Epub 2022 Jul 12 doi: 10.1097/ICU.0000000000000885. PMID: 35819899 Free PMC Article

Harboyan Syndrome.

Javaid A, Orakzai AA
J Ayub Med Coll Abbottabad 2020 Oct-Dec;32(Suppl 1)(4):S701-S703. PMID: 33754535

Shewanella algae keratitis.

Bravenec CA, Pandit RT, Beaver HA
Indian J Ophthalmol 2019 Jan;67(1):148-150. doi: 10.4103/ijo.IJO_617_18. PMID: 30574928 Free PMC Article

Congenital Corneal Anesthesia and Neurotrophic Keratitis: Diagnosis and Management.

Mantelli F, Nardella C, Tiberi E, Sacchetti M, Bruscolini A, Lambiase A
Biomed Res Int 2015;2015:805876. Epub 2015 Sep 16 doi: 10.1155/2015/805876. PMID: 26451380 Free PMC Article

Hereditary gelsolin amyloidosis.

Kiuru-Enari S, Haltia M
Handb Clin Neurol 2013;115:659-81. doi: 10.1016/B978-0-444-52902-2.00039-4. PMID: 23931809

See all (214)

Therapy

Contact lenses for the treatment of ocular surface diseases.

Sharma N, Sah R, Priyadarshini K, Titiyal JS
Indian J Ophthalmol 2023 Apr;71(4):1135-1141. doi: 10.4103/IJO.IJO_17_23. PMID: 37026245 Free PMC Article

Recurrent corneal erosion syndrome.

Lin SR, Aldave AJ, Chodosh J
Br J Ophthalmol 2019 Sep;103(9):1204-1208. Epub 2019 Feb 13 doi: 10.1136/bjophthalmol-2019-313835. PMID: 30760455

Shewanella algae keratitis.

Bravenec CA, Pandit RT, Beaver HA
Indian J Ophthalmol 2019 Jan;67(1):148-150. doi: 10.4103/ijo.IJO_617_18. PMID: 30574928 Free PMC Article

Superficial keratectomy: indications and outcomes.

Bae SS, Chan CC
Can J Ophthalmol 2018 Dec;53(6):553-559. Epub 2018 Apr 4 doi: 10.1016/j.jcjo.2018.01.030. PMID: 30502977

Update on phototherapeutic keratectomy.

Stasi K, Chuck RS
Curr Opin Ophthalmol 2009 Jul;20(4):272-5. doi: 10.1097/ICU.0b013e32832b4f44. PMID: 19381088

See all (78)

Prognosis

Epithelial thickness mapping for corneal refractive surgery.

Reinstein DZ, Archer TJ, Vida RS
Curr Opin Ophthalmol 2022 Jul 1;33(4):258-268. doi: 10.1097/ICU.0000000000000867. PMID: 35779050

Corneal Sensitivity and Tear Function in Recurrent Corneal Erosion Syndrome.

Kang EY, Chen HT, Hsueh YJ, Chen HC, Tan HY, Hsiao CH, Yeh LK, Wu WC
Invest Ophthalmol Vis Sci 2020 Mar 9;61(3):21. doi: 10.1167/iovs.61.3.21. PMID: 32181797 Free PMC Article

Superficial keratectomy: indications and outcomes.

Bae SS, Chan CC
Can J Ophthalmol 2018 Dec;53(6):553-559. Epub 2018 Apr 4 doi: 10.1016/j.jcjo.2018.01.030. PMID: 30502977

SLC4A11 and the Pathophysiology of Congenital Hereditary Endothelial Dystrophy.

Patel SP, Parker MD
Biomed Res Int 2015;2015:475392. Epub 2015 Sep 16 doi: 10.1155/2015/475392. PMID: 26451371 Free PMC Article

Cone rod dystrophies.

Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046 Free PMC Article

See all (84)

Clinical prediction guides

Prevalence of neurotrophic keratopathy in patients with chronic ocular graft-versus-host disease.

Singh RB, Yuksel E, Sinha S, Wang S, Taketani Y, Luznik Z, Yin J, Dohlman TH, Dana R
Ocul Surf 2022 Oct;26:13-18. Epub 2022 Jul 16 doi: 10.1016/j.jtos.2022.07.001. PMID: 35843560

Epithelial thickness mapping for corneal refractive surgery.

Reinstein DZ, Archer TJ, Vida RS
Curr Opin Ophthalmol 2022 Jul 1;33(4):258-268. doi: 10.1097/ICU.0000000000000867. PMID: 35779050

Corneal Sensitivity and Tear Function in Recurrent Corneal Erosion Syndrome.

Kang EY, Chen HT, Hsueh YJ, Chen HC, Tan HY, Hsiao CH, Yeh LK, Wu WC
Invest Ophthalmol Vis Sci 2020 Mar 9;61(3):21. doi: 10.1167/iovs.61.3.21. PMID: 32181797 Free PMC Article

Ocular features in Alport syndrome: pathogenesis and clinical significance.

Savige J, Sheth S, Leys A, Nicholson A, Mack HG, Colville D
Clin J Am Soc Nephrol 2015 Apr 7;10(4):703-9. Epub 2015 Feb 3 doi: 10.2215/CJN.10581014. PMID: 25649157 Free PMC Article

Flecked retina disorders.

De Laey JJ
Bull Soc Belge Ophtalmol 1993;249:11-22. PMID: 7952338

See all (107)

Recent systematic reviews

Safety and Efficacy of the Phototherapeutic Keratectomy for Treatment of Recurrent Corneal Erosions: A Systematic Review and Meta-Analysis.

Chen S, Chu X, Zhang C, Jia Z, Yang L, Yang R, Huang Y, Zhao S
Ophthalmic Res 2023;66(1):1114-1127. Epub 2023 Jul 25 doi: 10.1159/000533160. PMID: 37490883 Free PMC Article

Pediatric endothelial keratoplasty: a systematic review and individual participant data meta-analysis.

Mohebbi M, Mehrpour M, Sanij AD, Mohammadi N, Mirghorbani M
Graefes Arch Clin Exp Ophthalmol 2022 Apr;260(4):1069-1082. Epub 2021 Oct 28 doi: 10.1007/s00417-021-05459-8. PMID: 34709453

See all (2)

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Syndromic corneal dystrophy

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

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Practice guidelines

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