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Abnormal intraocular pressure

MedGen UID:
636377
Concept ID:
C0520999
Finding
Synonym: Abnormal eye pressure
SNOMED CT: Abnormal intraocular pressure (24075007)
 
HPO: HP:0012632

Definition

An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye. [from HPO]

Term Hierarchy

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

Conditions with this feature

Megalocornea-intellectual disability syndrome
MedGen UID:
162904
Concept ID:
C0796086
Disease or Syndrome
The cardinal findings of Neuhauser syndrome, also known as MMR syndrome, are impaired intellectual development or developmental delay, megalocornea, hypotonia, prominent forehead, micrognathia, prominent nasal bridge, and thin upper lip or carp-like mouth (Naritomi et al., 1997). Reviews Gutierrez-Amavizca et al. (2013) reviewed published reports and tabulated the clinical features of 35 patients with Neuhauser syndrome. Primary megalocornea and psychomotor delay were present in all patients. Characteristics observed in more than half of patients included hypotonia, growth retardation, abnormal electroencephalography (EEG) and/or seizures, micro- or macrocephaly, brain malformations such as cerebral atrophy and hypoplastic corpus callosum, craniofacial dysmorphisms, cardiac anomalies, osteoarticular abnormalities, and refractive errors. Additional features found at low frequency included primary hypothyroidism, recurrent infections, feeding difficulties, cerebral hypomyelination, dyslipidemia, sensorineural deafness, laryngomalacia, large fleshy and cup-shaped ears, obesity, and cryptorchidism. The authors stated that the classification suggested by Verloes et al. (1993) did not seem to be applicable, and proposed that the diagnosis of Neuhauser syndrome should be made in the presence of intellectual disability and megalocornea in the absence of elevated intraocular pressure, with at least 1 minor feature from among those observed in more than half of patients.
Isolated congenital megalocornea
MedGen UID:
1385311
Concept ID:
C4518341
Congenital Abnormality
Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment. The disease has characteristics of bilateral enlargement of the corneal diameter and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development and secondary glaucoma. There is evidence this disease is caused by mutation in the CHRDL1 gene on chromosome Xq23.

Professional guidelines

PubMed

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
Chang RT, Singh K
Asia Pac J Ophthalmol (Phila) 2016 Jan-Feb;5(1):32-7. doi: 10.1097/APO.0000000000000173. PMID: 26886117
Cohen LP, Pasquale LR
Cold Spring Harb Perspect Med 2014 Jun 2;4(6) doi: 10.1101/cshperspect.a017236. PMID: 24890835Free PMC Article

Recent clinical studies

Etiology

Day AC, MacLaren RE, Bunce C, Stevens JD, Foster PJ
J Cataract Refract Surg 2013 Jan;39(1):87-96. doi: 10.1016/j.jcrs.2012.08.057. PMID: 23245362
Park SP, Ahn JK, Lee GH
J Cataract Refract Surg 2009 May;35(5):868-73. doi: 10.1016/j.jcrs.2008.12.032. PMID: 19393886
Westfall AC, Lauer AK, Suhler EB, Rosenbaum JT
J Glaucoma 2005 Feb;14(1):3-10. doi: 10.1097/01.ijg.0000146373.51495.c1. PMID: 15650597
Lashutka MK, Chandra A, Murray HN, Phillips GS, Hiestand BC
Ann Emerg Med 2004 May;43(5):585-91. doi: 10.1016/j.annemergmed.2003.12.006. PMID: 15111918
Williams BI, Peart WS, Letley E
Br J Ophthalmol 1980 Nov;64(11):845-51. doi: 10.1136/bjo.64.11.845. PMID: 7426555Free PMC Article

Diagnosis

Ratnarajan G, Newsom W, French K, Kean J, Chang L, Parker M, Garway-Heath DF, Bourne RR
Br J Ophthalmol 2013 Feb;97(2):210-4. Epub 2012 Oct 30 doi: 10.1136/bjophthalmol-2012-302352. PMID: 23111242
Thorne JE, Woreta F, Kedhar SR, Dunn JP, Jabs DA
Am J Ophthalmol 2007 May;143(5):840-846. Epub 2007 Mar 23 doi: 10.1016/j.ajo.2007.01.033. PMID: 17362866
Lashutka MK, Chandra A, Murray HN, Phillips GS, Hiestand BC
Ann Emerg Med 2004 May;43(5):585-91. doi: 10.1016/j.annemergmed.2003.12.006. PMID: 15111918
Anyanwu EC, Ehiri J
ScientificWorldJournal 2004 Mar 12;4:159-66. doi: 10.1100/tsw.2004.21. PMID: 15105955Free PMC Article
Gamblin GT, Harper DG, Galentine P, Buck DR, Chernow B, Eil C
N Engl J Med 1983 Feb 24;308(8):420-4. doi: 10.1056/NEJM198302243080803. PMID: 6687400

Therapy

Park SP, Ahn JK, Lee GH
J Cataract Refract Surg 2009 May;35(5):868-73. doi: 10.1016/j.jcrs.2008.12.032. PMID: 19393886
Thorne JE, Woreta F, Kedhar SR, Dunn JP, Jabs DA
Am J Ophthalmol 2007 May;143(5):840-846. Epub 2007 Mar 23 doi: 10.1016/j.ajo.2007.01.033. PMID: 17362866
Hutton WL, Fuller DG, Snyder WB, Fellman RL, Swanson WH
Ophthalmology 1996 Dec;103(12):2152-8; discussion 2158-9. doi: 10.1016/s0161-6420(96)30376-x. PMID: 9003351
Barr CC, Lai MY, Lean JS, Linton KL, Trese M, Abrams G, Ryan SJ, Azen SP
Ophthalmology 1993 Nov;100(11):1629-35. doi: 10.1016/s0161-6420(93)31425-9. PMID: 8233387

Prognosis

Day AC, MacLaren RE, Bunce C, Stevens JD, Foster PJ
J Cataract Refract Surg 2013 Jan;39(1):87-96. doi: 10.1016/j.jcrs.2012.08.057. PMID: 23245362
Ratnarajan G, Newsom W, French K, Kean J, Chang L, Parker M, Garway-Heath DF, Bourne RR
Br J Ophthalmol 2013 Feb;97(2):210-4. Epub 2012 Oct 30 doi: 10.1136/bjophthalmol-2012-302352. PMID: 23111242
Thorne JE, Woreta F, Kedhar SR, Dunn JP, Jabs DA
Am J Ophthalmol 2007 May;143(5):840-846. Epub 2007 Mar 23 doi: 10.1016/j.ajo.2007.01.033. PMID: 17362866
Westfall AC, Lauer AK, Suhler EB, Rosenbaum JT
J Glaucoma 2005 Feb;14(1):3-10. doi: 10.1097/01.ijg.0000146373.51495.c1. PMID: 15650597
Barr CC, Lai MY, Lean JS, Linton KL, Trese M, Abrams G, Ryan SJ, Azen SP
Ophthalmology 1993 Nov;100(11):1629-35. doi: 10.1016/s0161-6420(93)31425-9. PMID: 8233387

Clinical prediction guides

Oda M, Yamamoto H, Matsumoto H, Ishizaki Y, Shibasaki K
Lab Invest 2020 Feb;100(2):297-310. Epub 2019 Dec 16 doi: 10.1038/s41374-019-0347-1. PMID: 31844148
Ratnarajan G, Newsom W, French K, Kean J, Chang L, Parker M, Garway-Heath DF, Bourne RR
Br J Ophthalmol 2013 Feb;97(2):210-4. Epub 2012 Oct 30 doi: 10.1136/bjophthalmol-2012-302352. PMID: 23111242
Westfall AC, Lauer AK, Suhler EB, Rosenbaum JT
J Glaucoma 2005 Feb;14(1):3-10. doi: 10.1097/01.ijg.0000146373.51495.c1. PMID: 15650597
Lashutka MK, Chandra A, Murray HN, Phillips GS, Hiestand BC
Ann Emerg Med 2004 May;43(5):585-91. doi: 10.1016/j.annemergmed.2003.12.006. PMID: 15111918
Davis JL, Serfass MS, Lai MY, Trask DK, Azen SP
Arch Ophthalmol 1995 Nov;113(11):1401-9. doi: 10.1001/archopht.1995.01100110061026. PMID: 7487601

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