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Raised intraocular pressure

MedGen UID:
68606
Concept ID:
C0234708
Finding
Synonyms: elevated intraocular pressure; Increased intraocular pressure
SNOMED CT: Raised intraocular pressure (112222000); Elevated intraocular pressure (112222000)
 
HPO: HP:0007906

Definition

Intraocular pressure that is 2 standard deviations above the population mean. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRaised intraocular pressure

Conditions with this feature

Congenital miosis
MedGen UID:
227002
Concept ID:
C1303009
Congenital Abnormality
Inherited congenital microcoria, also referred to as congenital miosis, is characterized by bilateral small pupils (diameter less than 2 mm) that result from an underdevelopment of the dilator pupillae muscle of the iris (Holth and Berner, 1923; Simpson and Parsons, 1989). Iris transillumination defects are a constant feature. The pupil dilates poorly or not at all in response to topically administered mydriatic drugs. The disorder is transmitted as an autosomal dominant trait with complete penetrance and is associated with goniodysgenesis and glaucoma (Tawara and Inomata, 1983; Mazzeo et al., 1986; Toulemont et al., 1995).
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
MedGen UID:
330396
Concept ID:
C1832167
Disease or Syndrome
Traboulsi syndrome is characterized by dislocated crystalline lenses and anterior segment abnormalities in association with a distinctive facies involving flat cheeks and a beaked nose. Some affected individuals develop highly unusual nontraumatic conjunctival cysts (filtering blebs), presumably caused by abnormal thinning of the sclera (Patel et al., 2014).
Hyperostosis cranialis interna
MedGen UID:
327093
Concept ID:
C1840404
Disease or Syndrome
Hyperostosis cranialis interna is a bone disorder characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base. The progressive bone overgrowth causes entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII (Waterval et al., 2010).
Congenital primary aphakia
MedGen UID:
339935
Concept ID:
C1853230
Congenital Abnormality
Anterior segment dysgeneses are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016). Anterior segment dysgenesis is sometimes divided into subtypes, including aniridia (see 106210), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002). Some patients with ASGD2 have been reported with a congenital primary aphakia subtype. Congenital primary aphakia is a rare developmental disorder characterized by absence of the lens, the development of which is normally induced during the fourth to fifth week of human embryogenesis. This original failure leads, in turn, to complete aplasia of the anterior segment of the eye, which is the diagnostic histologic criterion for CPAK. In contrast, in secondary aphakia, lens induction occurs and the lens vesicle develops to some degree, but is progressively resorbed perinatally, resulting in less severe ocular defects (summary by Valleix et al., 2006).
Glaucoma 3A
MedGen UID:
383912
Concept ID:
C1856439
Congenital Abnormality
Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs.
Neonatal diabetes mellitus with congenital hypothyroidism
MedGen UID:
347541
Concept ID:
C1857775
Disease or Syndrome
Neonatal diabetes mellitus with congenital hypothyroidism (NDH) syndrome is characterized by intrauterine growth retardation and onset of nonimmune diabetes mellitus within the first few weeks of life. Other features include renal parenchymal disease, primarily renal cystic dysplasia, and hepatic disease, with hepatitis in some patients and hepatic fibrosis and cirrhosis in others. Facial dysmorphism, when present, consistently involves low-set ears, epicanthal folds, flat nasal bridge, long philtrum, and thin upper lip. Most patients exhibit developmental delay (Dimitri et al., 2015).
Glaucoma 1, open angle, F
MedGen UID:
355096
Concept ID:
C1863926
Disease or Syndrome
Brachydactyly, coloboma, and anterior segment dysgenesis
MedGen UID:
355321
Concept ID:
C1864901
Disease or Syndrome
Colobomatous macrophthalmia-microcornea syndrome
MedGen UID:
400728
Concept ID:
C1865286
Disease or Syndrome
A rare genetic eye disease with characteristics of microcornea, coloboma of the iris and the optic disc, axial enlargement of the globe, staphyloma and severe myopia. Additional manifestations are mild cornea plana, iridocorneal angle abnormalities with elevation of intraocular pressure and shallow anterior chamber depth. Variable expressivity of the phenotype has been described, including unilateral or bilateral involvement or variable extent of coloboma among other features.
Glaucoma type 1C
MedGen UID:
356544
Concept ID:
C1866483
Disease or Syndrome
Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome
MedGen UID:
382718
Concept ID:
C2675904
Disease or Syndrome
For a detailed discussion of the WAGR syndrome, see 194072. In a subgroup of individuals with the WAGR syndrome, obesity develops. The phenotype in this subset is associated with haploinsufficiency for the BDNF gene.
Oculoauricular syndrome
MedGen UID:
393758
Concept ID:
C2677500
Disease or Syndrome
Oculoauricular syndrome (OCACS) is characterized by complex ocular anomalies, including congenital cataract, anterior segment dysgenesis, iris coloboma, and early-onset retinal dystrophy, and dysplastic ears with abnormal external ear cartilage (summary by Gillespie et al., 2015).
Weill-Marchesani 4 syndrome, recessive
MedGen UID:
416383
Concept ID:
C2750787
Disease or Syndrome
Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, short stature, brachydactyly, joint stiffness, and cardiovascular defects. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness. Height of adult males is 142-169 cm; height of adult females is 130-157 cm. Autosomal recessive WMS cannot be distinguished from autosomal dominant WMS by clinical findings alone.
Isolated microphthalmia 6
MedGen UID:
462107
Concept ID:
C3150757
Disease or Syndrome
Autosomal recessive isolated posterior microphthalmos defines a rare distinct phenotype restricted to the posterior segment of the eye. In adults, it is clinically characterized by extreme hyperopia (from +7.5 to +21 diopters) due to short axial length (14 mm to 20 mm; normal is greater than 21 mm). Other features include an essentially normal anterior segment, steep corneal curvatures, shallow anterior chamber, thick lenses, and thickened scleral wall. The palpebral fissures appear narrow because of relatively deep-set eyes, visual acuity is mildly to moderately reduced, and anisometropic or strabismic amblyopia is common. The fundus of the eye shows crowded optical discs, tortuous vessels, and an abnormal foveal avascular zone; in addition, papillomacular folds are often reported. Morphometric features of the small eyes predispose to complications such as narrow-angle glaucoma and uveal effusion (summary by Gal et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of isolated microphthalmia, see MCOP1 (251600).
Anterior segment dysgenesis 7
MedGen UID:
462967
Concept ID:
C3151617
Disease or Syndrome
Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016). In sclerocornea there is congenital, nonprogressive corneal opacification that may be peripheral, sectoral, or central in location. Visual prognosis is related to the central corneal involvement. The cornea has a flat curvature. The majority of cases are bilateral (summary by Smith and Traboulsi, 2012). Isolated sclerocornea is caused by displacement of the limbal arcades and may be associated with cornea plana; in this condition, the anterior chamber is visible and the eye is not microphthalmic. In complex sclerocornea, however, corneal opacification is associated with microphthalmia, cataract, and/or infantile glaucoma. The central cornea is usually relatively clear, but the thickness is normal or increased, never reduced (summary by Nischal, 2007).
Craniofacial anomalies and anterior segment dysgenesis syndrome
MedGen UID:
481729
Concept ID:
C3280099
Disease or Syndrome
Weill-Marchesani syndrome 3
MedGen UID:
766699
Concept ID:
C3553785
Disease or Syndrome
Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, short stature, brachydactyly, joint stiffness, and cardiovascular defects. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness. Height of adult males is 142-169 cm; height of adult females is 130-157 cm. Autosomal recessive WMS cannot be distinguished from autosomal dominant WMS by clinical findings alone.
Glaucoma 3, primary congenital, E
MedGen UID:
934606
Concept ID:
C4310639
Disease or Syndrome
Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs.
Anterior segment dysgenesis 1
MedGen UID:
1631197
Concept ID:
C4551992
Disease or Syndrome
Glaucoma, primary closed-angle
MedGen UID:
1712967
Concept ID:
C5394374
Disease or Syndrome
Primary closed-angle glaucoma (GLCC) is characterized by age-related variation in the degree of iridocorneal angle closure and its sequelae, with patients in the first 3 decades of life showing a normal eye exam, whereas older patients progressively show more evidence of angle closure and glaucomatous damage, including optic nerve head changes and visual field defects (Suri et al., 2018).

Professional guidelines

PubMed

Vithalani NM, Basu S
Semin Ophthalmol 2022 Oct-Nov;37(7-8):820-829. Epub 2022 May 24 doi: 10.1080/08820538.2022.2078166. PMID: 35608546
Chan NS, Ti SE, Chee SP
Indian J Ophthalmol 2017 Dec;65(12):1329-1339. doi: 10.4103/ijo.IJO_740_17. PMID: 29208813Free PMC Article
Migdal C
Eye (Lond) 2000 Jun;14 ( Pt 3B):515-8. doi: 10.1038/eye.2000.138. PMID: 11026981

Recent clinical studies

Etiology

Wang W, Wang H
Mol Aspects Med 2023 Dec;94:101220. Epub 2023 Oct 17 doi: 10.1016/j.mam.2023.101220. PMID: 37856931
Ang M, Sng CCA
Curr Opin Ophthalmol 2018 Mar;29(2):178-184. doi: 10.1097/ICU.0000000000000454. PMID: 29206654
Baneke AJ, Lim KS, Stanford M
Curr Eye Res 2016;41(2):137-49. Epub 2015 May 14 doi: 10.3109/02713683.2015.1017650. PMID: 25974243
Shah R, Wormald RP
BMJ Clin Evid 2011 Jun 9;2011 PMID: 21658300Free PMC Article
Kok H, Barton K
Ophthalmol Clin North Am 2002 Sep;15(3):375-87, viii. doi: 10.1016/s0896-1549(02)00028-7. PMID: 12434487

Diagnosis

Gautam Seth N, Kaur S, Yangzes S, Jugran D, Bansal R, Gupta V, Dogra MR, Suri D, Singh S, Singh R
Ocul Immunol Inflamm 2021 Nov 17;29(7-8):1375-1380. Epub 2020 Jul 10 doi: 10.1080/09273948.2020.1762897. PMID: 32649841
Zemba M, Camburu G
Rom J Ophthalmol 2017 Jan-Mar;61(1):11-17. doi: 10.22336/rjo.2017.3. PMID: 29450365Free PMC Article
Chan NS, Ti SE, Chee SP
Indian J Ophthalmol 2017 Dec;65(12):1329-1339. doi: 10.4103/ijo.IJO_740_17. PMID: 29208813Free PMC Article
Megaw R, Agarwal PK
Surv Ophthalmol 2017 May-Jun;62(3):277-285. Epub 2016 Dec 22 doi: 10.1016/j.survophthal.2016.12.005. PMID: 28012873
Kok H, Barton K
Ophthalmol Clin North Am 2002 Sep;15(3):375-87, viii. doi: 10.1016/s0896-1549(02)00028-7. PMID: 12434487

Therapy

Gautam Seth N, Kaur S, Yangzes S, Jugran D, Bansal R, Gupta V, Dogra MR, Suri D, Singh S, Singh R
Ocul Immunol Inflamm 2021 Nov 17;29(7-8):1375-1380. Epub 2020 Jul 10 doi: 10.1080/09273948.2020.1762897. PMID: 32649841
Ang M, Sng CCA
Curr Opin Ophthalmol 2018 Mar;29(2):178-184. doi: 10.1097/ICU.0000000000000454. PMID: 29206654
Zemba M, Camburu G
Rom J Ophthalmol 2017 Jan-Mar;61(1):11-17. doi: 10.22336/rjo.2017.3. PMID: 29450365Free PMC Article
Chan NS, Ti SE, Chee SP
Indian J Ophthalmol 2017 Dec;65(12):1329-1339. doi: 10.4103/ijo.IJO_740_17. PMID: 29208813Free PMC Article
Pinkney TD, King AJ, Walter C, Wilson TR, Maxwell-Armstrong C, Acheson AG
Tech Coloproctol 2012 Oct;16(5):331-5. Epub 2012 Aug 31 doi: 10.1007/s10151-012-0879-5. PMID: 22936587

Prognosis

Al-Ani HH, Li S, Niederer RL
Clin Exp Optom 2023 Sep;106(7):741-745. Epub 2022 Dec 4 doi: 10.1080/08164622.2022.2146482. PMID: 36464321
Gautam Seth N, Kaur S, Yangzes S, Jugran D, Bansal R, Gupta V, Dogra MR, Suri D, Singh S, Singh R
Ocul Immunol Inflamm 2021 Nov 17;29(7-8):1375-1380. Epub 2020 Jul 10 doi: 10.1080/09273948.2020.1762897. PMID: 32649841
Tan SZ, Yau K, Steeples LR, Ashworth J, Fenerty C, Jones N
Br J Ophthalmol 2019 Jun;103(6):748-752. Epub 2018 Jul 18 doi: 10.1136/bjophthalmol-2018-312498. PMID: 30021815
Ang M, Sng CCA
Curr Opin Ophthalmol 2018 Mar;29(2):178-184. doi: 10.1097/ICU.0000000000000454. PMID: 29206654
Chia WL, Martin F
Clin Exp Ophthalmol 2001 Apr;29(2):75-80. PMID: 11341450

Clinical prediction guides

Singh P, Krishnaprasad R, Ayachit G, Joshi S
Rom J Ophthalmol 2024 Jan-Mar;68(1):37-44. doi: 10.22336/rjo.2024.08. PMID: 38617725Free PMC Article
Gautam Adhikari P, Shrestha GB
J Nepal Health Res Counc 2022 Mar 13;19(4):824-829. doi: 10.33314/jnhrc.v19i04.3963. PMID: 35615845
AlBloushi AF, Solebo AL, Gokhale E, Hayouti H, Ajamil-Rodanes S, Petrushkin H
Am J Ophthalmol 2022 May;237:41-48. Epub 2021 Nov 13 doi: 10.1016/j.ajo.2021.11.003. PMID: 34780797
Palkar A, Sudharshan S, George AE, Ganesh SK, Biswas J, Dutta Majumder P
Ocul Immunol Inflamm 2021 Nov 17;29(7-8):1540-1543. Epub 2020 May 28 doi: 10.1080/09273948.2020.1754434. PMID: 32463347
Shah R, Wormald RP
BMJ Clin Evid 2011 Jun 9;2011 PMID: 21658300Free PMC Article

Recent systematic reviews

Mehta H, Hennings C, Gillies MC, Nguyen V, Campain A, Fraser-Bell S
Cochrane Database Syst Rev 2018 Apr 18;4(4):CD011599. doi: 10.1002/14651858.CD011599.pub2. PMID: 29669176Free PMC Article
Squires H, Poku E, Bermejo I, Cooper K, Stevens J, Hamilton J, Wong R, Denniston A, Pearce I, Quhill F
Health Technol Assess 2017 Nov;21(68):1-170. doi: 10.3310/hta21680. PMID: 29183563Free PMC Article
Cabourne E, Clarke JC, Schlottmann PG, Evans JR
Cochrane Database Syst Rev 2015 Nov 6;2015(11):CD006259. doi: 10.1002/14651858.CD006259.pub2. PMID: 26545176Free PMC Article
Pinkney TD, King AJ, Walter C, Wilson TR, Maxwell-Armstrong C, Acheson AG
Tech Coloproctol 2012 Oct;16(5):331-5. Epub 2012 Aug 31 doi: 10.1007/s10151-012-0879-5. PMID: 22936587
Shah R, Wormald RP
BMJ Clin Evid 2011 Jun 9;2011 PMID: 21658300Free PMC Article

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