Format

Send to:

Choose Destination

Disorder of eye

MedGen UID:
5092
•Concept ID:
C0015397
•
Disease or Syndrome
Synonyms: Eye Diseases; Eye Disorders
SNOMED CT: Disorder of eye (371405004); Disease of eyeball (371405004); Disorder of globe (371405004); Disorder of eyeball (371405004); Eye disorder (371405004); Disorder of eye proper (371405004)
 
Monarch Initiative: MONDO:0005328

Definition

A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Disorder of eye

Professional guidelines

PubMed

Genotype/phenotype association in Indian congenital aniridia.
Neethirajan G, Solomon A, Krishnadas SR, Vijayalakshmi P, Sundaresan P
Indian J Pediatr 2009 May;76(5):513-7. Epub 2009 Apr 23 doi: 10.1007/s12098-009-0075-4. PMID: 19390808
A new treatment for congenital nystagmus.
Abadi RV, Carden D, Simpson J
Br J Ophthalmol 1980 Jan;64(1):2-6. doi: 10.1136/bjo.64.1.2. PMID: 7356927Free PMC Article

Recent clinical studies

Diagnosis

Internuclear Ophthalmoplegia as an Isolated Symptom of Brainstem Wake-up Stroke Responsive to Intravenous Thrombolysis: Evidence from MRI.
Barbagallo G, Caggiula M, Rizzo A, Direnzo V, Lupo A, Fasano A, Greco CA, Pauciulo A, Saponaro A, Paladini A, Barbarini L
Curr Med Imaging 2023;19(6):636-639. doi: 10.2174/1573405618666220823122813. PMID: 36017839
Bilateral persistent hyperplastic primary vitreous: a close mimic of retinoblastoma.
Rizvi SW, Siddiqui MA, Khan AA, Ahmad I, Ullah E, Sukul RR
Semin Ophthalmol 2013 Jan;28(1):25-7. doi: 10.3109/08820538.2012.730098. PMID: 23305436
The one-and-a-half syndrome. Clinical correlation with a pontine lesion demonstrated by nuclear magnetic resonance imaging in a case of multiple sclerosis.
Martyn CN, Kean D
Br J Ophthalmol 1988 Jul;72(7):515-7. doi: 10.1136/bjo.72.7.515. PMID: 3415943Free PMC Article
The nystagmus blockage syndrome. Congenital nystagmus, manifest latent nystagmus, or both?
Dell'Osso LF, Ellenberger C Jr, Abel LA, Flynn JT
Invest Ophthalmol Vis Sci 1983 Dec;24(12):1580-7. PMID: 6654639
A new treatment for congenital nystagmus.
Abadi RV, Carden D, Simpson J
Br J Ophthalmol 1980 Jan;64(1):2-6. doi: 10.1136/bjo.64.1.2. PMID: 7356927Free PMC Article

Therapy

Chronic neutropenia and defect in superoxide generation of granulocytes in two patients: enhancement of bactericidal capacity and respiratory burst activity by treatment with recombinant human granulocyte colony-stimulating factor.
Káposzta R, Maródi L
Pediatr Res 1995 Jan;37(1):50-5. doi: 10.1203/00006450-199501000-00011. PMID: 7535420

Prognosis

Internuclear Ophthalmoplegia as an Isolated Symptom of Brainstem Wake-up Stroke Responsive to Intravenous Thrombolysis: Evidence from MRI.
Barbagallo G, Caggiula M, Rizzo A, Direnzo V, Lupo A, Fasano A, Greco CA, Pauciulo A, Saponaro A, Paladini A, Barbarini L
Curr Med Imaging 2023;19(6):636-639. doi: 10.2174/1573405618666220823122813. PMID: 36017839

Clinical prediction guides

An autopsied case of adult-onset bulbospinalform Alexander disease with a novel S393R mutation in the GFAP gene.
Iwasaki Y, Saito Y, Mori K, Ito M, Mimuro M, Aiba I, Saito K, Mizuta I, Yoshida T, Nakagawa M, Yoshida M
Clin Neuropathol 2015 Jul-Aug;34(4):207-14. doi: 10.5414/NP300806. PMID: 25828773
Localization of a novel gene for congenital nonsyndromic simple microphthalmia to chromosome 2q11-14.
Li H, Wang JX, Wang CY, Yu P, Zhou Q, Chen YG, Zhao LH, Zhang YP
Hum Genet 2008 Jan;122(6):589-93. Epub 2007 Oct 9 doi: 10.1007/s00439-007-0435-y. PMID: 17924146
Neurological and cytogenetic study in early-onset ataxia-telangiectasia patients.
Leuzzi V, Elli R, Antonelli A, Chessa L, Cardona F, Marcucci L, Petrinelli P
Eur J Pediatr 1993 Jul;152(7):609-12. doi: 10.1007/BF01954092. PMID: 7689057

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...