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Myopia 18, autosomal recessive(MYP18)

MedGen UID:
411856
Concept ID:
C2749509
Disease or Syndrome
Synonym: MYP18
 
Monarch Initiative: MONDO:0009713
OMIM®: 255500

Definition

Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004). For a discussion of genetic heterogeneity of susceptibility to myopia, see 160700. [from OMIM]

Clinical features

From HPO
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.

Recent clinical studies

Etiology

Palmer E, Stepien KM, Campbell C, Barton S, Iosifidis C, Ghosh A, Broomfield A, Woodall A, Wilcox G, Sergouniotis PI, Black GC
Orphanet J Rare Dis 2023 Sep 4;18(1):265. doi: 10.1186/s13023-023-02840-0. PMID: 37667371Free PMC Article
Sergouniotis PI, Robson AG, Li Z, Devery S, Holder GE, Moore AT, Webster AR
Acta Ophthalmol 2012 May;90(3):e192-7. Epub 2011 Oct 19 doi: 10.1111/j.1755-3768.2011.02267.x. PMID: 22008250
Creswick HA, Stacey MW, Kelly RE Jr, Gustin T, Nuss D, Harvey H, Goretsky MJ, Vasser E, Welch JC, Mitchell K, Proud VK
J Pediatr Surg 2006 Oct;41(10):1699-703. doi: 10.1016/j.jpedsurg.2006.05.071. PMID: 17011272
Farbrother JE, Kirov G, Owen MJ, Pong-Wong R, Haley CS, Guggenheim JA
Invest Ophthalmol Vis Sci 2004 Sep;45(9):2879-85. doi: 10.1167/iovs.03-1156. PMID: 15326098
Wildsoet CF, Oswald PJ, Clark S
Invest Ophthalmol Vis Sci 2000 Jan;41(1):1-7. PMID: 10634592

Diagnosis

Palmer E, Stepien KM, Campbell C, Barton S, Iosifidis C, Ghosh A, Broomfield A, Woodall A, Wilcox G, Sergouniotis PI, Black GC
Orphanet J Rare Dis 2023 Sep 4;18(1):265. doi: 10.1186/s13023-023-02840-0. PMID: 37667371Free PMC Article
Duman SB, Dedeoglu N, Arikan B, Altun O
Surg Radiol Anat 2020 Nov;42(11):1377-1380. Epub 2020 Aug 28 doi: 10.1007/s00276-020-02558-9. PMID: 32860086
Jasani KM, Parry NRA, Black G, Kelly SP
BMJ Case Rep 2018 Feb 5;2018 doi: 10.1136/bcr-2016-217556. PMID: 29437727Free PMC Article
Désir J, Sznajer Y, Depasse F, Roulez F, Schrooyen M, Meire F, Abramowicz M
Eur J Hum Genet 2010 Jul;18(7):761-7. Epub 2010 Feb 24 doi: 10.1038/ejhg.2010.11. PMID: 20179738Free PMC Article
Wildsoet CF, Oswald PJ, Clark S
Invest Ophthalmol Vis Sci 2000 Jan;41(1):1-7. PMID: 10634592

Therapy

Jasani KM, Parry NRA, Black G, Kelly SP
BMJ Case Rep 2018 Feb 5;2018 doi: 10.1136/bcr-2016-217556. PMID: 29437727Free PMC Article
Naiglin L, Clayton J, Gazagne C, Dallongeville F, Malecaze F, Calvas P
Ann Genet 1999;42(3):140-6. PMID: 10526656

Prognosis

Rejeb I, Jilani H, Elaribi Y, Hizem S, Hila L, Zillahrdt JL, Chelly J, Benjemaa L
BMC Med Genet 2017 Nov 17;18(1):134. doi: 10.1186/s12881-017-0493-5. PMID: 29149870Free PMC Article

Clinical prediction guides

Duman SB, Dedeoglu N, Arikan B, Altun O
Surg Radiol Anat 2020 Nov;42(11):1377-1380. Epub 2020 Aug 28 doi: 10.1007/s00276-020-02558-9. PMID: 32860086

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