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Abnormal vitreous humor morphology

MedGen UID:
870895
Concept ID:
C4025356
Anatomical Abnormality
Synonym: Abnormality of the vitreous humor
 
HPO: HP:0004327

Definition

Any structural anomaly of the vitreous body. [from HPO]

Conditions with this feature

Stickler syndrome type 2
MedGen UID:
347615
Concept ID:
C1858084
Disease or Syndrome
Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity.

Professional guidelines

PubMed

Kaplowitz K, Yung E, Flynn R, Tsai JC
Surv Ophthalmol 2015 May-Jun;60(3):229-41. Epub 2014 Dec 27 doi: 10.1016/j.survophthal.2014.12.004. PMID: 25639795
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Recent clinical studies

Etiology

Nguyen JH, Nguyen-Cuu J, Mamou J, Routledge B, Yee KMP, Sebag J
Am J Ophthalmol 2021 Apr;224:246-253. Epub 2020 Sep 17 doi: 10.1016/j.ajo.2020.09.017. PMID: 32950508
Khurana S, Gupta PC, Vaiphei K, Singh R, Ram J
Indian J Ophthalmol 2019 Jun;67(6):785-787. doi: 10.4103/ijo.IJO_1375_18. PMID: 31124487Free PMC Article
Mapelli C, Invernizzi A, Barteselli G, Pellegrini M, Tabacchi E, Staurenghi G, Viola F
Ophthalmologica 2016;236(3):166-174. Epub 2016 Sep 15 doi: 10.1159/000447412. PMID: 27627063
Kaplowitz K, Yung E, Flynn R, Tsai JC
Surv Ophthalmol 2015 May-Jun;60(3):229-41. Epub 2014 Dec 27 doi: 10.1016/j.survophthal.2014.12.004. PMID: 25639795
Richards AJ, McNinch A, Martin H, Oakhill K, Rai H, Waller S, Treacy B, Whittaker J, Meredith S, Poulson A, Snead MP
Hum Mutat 2010 Jun;31(6):E1461-71. doi: 10.1002/humu.21257. PMID: 20513134

Diagnosis

Kaštelan S, Orešković I, Bišćan F, Kaštelan H, Gverović Antunica A
Biochem Med (Zagreb) 2020 Oct 15;30(3):030502. Epub 2020 Aug 5 doi: 10.11613/BM.2020.030502. PMID: 32774120Free PMC Article
Chen C, Xiao H, Ding X
Asia Pac J Ophthalmol (Phila) 2019 Jan-Feb;8(1):86-95. Epub 2018 Oct 30 doi: 10.22608/APO.201854. PMID: 30375202
Kaufman SJ, Goldberg MF, Orth DH, Fishman GA, Tessler H, Mizuno K
Arch Ophthalmol 1982 Feb;100(2):272-8. doi: 10.1001/archopht.1982.01030030274008. PMID: 7065944
Kaplan HJ, Aaberg TM
Am J Ophthalmol 1980 Dec;90(6):773-82. doi: 10.1016/s0002-9394(14)75192-x. PMID: 7446664
Freeman HM
Arch Ophthalmol 1969 Oct;82(4):551-66. doi: 10.1001/archopht.1969.00990020553022. PMID: 4902356

Therapy

Tse DT, Ober RR
Am J Ophthalmol 1980 Nov;90(5):624-40. doi: 10.1016/s0002-9394(14)75129-3. PMID: 6160767
Tolentino FI
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Simmons RJ
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Freeman HM
Arch Ophthalmol 1969 Oct;82(4):551-66. doi: 10.1001/archopht.1969.00990020553022. PMID: 4902356

Prognosis

Kaplowitz K, Yung E, Flynn R, Tsai JC
Surv Ophthalmol 2015 May-Jun;60(3):229-41. Epub 2014 Dec 27 doi: 10.1016/j.survophthal.2014.12.004. PMID: 25639795
Edwards AO
Eye (Lond) 2008 Oct;22(10):1233-42. Epub 2008 Feb 29 doi: 10.1038/eye.2008.38. PMID: 18309337
Benson WE
Trans Am Ophthalmol Soc 1995;93:473-521. PMID: 8719692Free PMC Article
Godel V, Nemet P, Lazar M
Doc Ophthalmol 1981 Dec 16;52(2):179-88. doi: 10.1007/BF01675204. PMID: 7035111
Kaplan HJ, Aaberg TM
Am J Ophthalmol 1980 Dec;90(6):773-82. doi: 10.1016/s0002-9394(14)75192-x. PMID: 7446664

Clinical prediction guides

Yaqoob N, Zia N, Hamid A, Kaleem B, Jamal S, Amin S, Qaddoumi I, Jamal S
Pediatr Blood Cancer 2022 May;69(5):e29625. Epub 2022 Mar 6 doi: 10.1002/pbc.29625. PMID: 35253344
Nawaz IM, Rezzola S, Cancarini A, Russo A, Costagliola C, Semeraro F, Presta M
Prog Retin Eye Res 2019 Sep;72:100756. Epub 2019 Apr 2 doi: 10.1016/j.preteyeres.2019.03.002. PMID: 30951889
Li CQ, Cho AA, Edward NJ, Edward DP, Fajardo RG, Mafee MF
Neuroradiology 2015 Aug;57(8):825-32. Epub 2015 Apr 24 doi: 10.1007/s00234-015-1531-7. PMID: 25903430
Stefani FH, Hausmann N, Lund OE
Am J Ophthalmol 1991 Nov 15;112(5):581-6. doi: 10.1016/s0002-9394(14)76862-x. PMID: 1951597
Engerman R, Finkelstein D, Aguirre G, Diddie KR, Fox RR, Frank RN, Varma SD
Diabetes 1982;31(Suppl 1 Pt 2):82-8. doi: 10.2337/diab.31.1.s82. PMID: 6819171

Recent systematic reviews

Møller-Lorentzen TB, Eckmann-Hansen C, Faber C, Larsen M, Subhi Y
Acta Ophthalmol 2020 Dec;98(8):755-762. Epub 2020 May 15 doi: 10.1111/aos.14465. PMID: 32410360
Aparna R, Shanti Iyer R
Forensic Sci Int 2020 Jan;306:110055. Epub 2019 Nov 15 doi: 10.1016/j.forsciint.2019.110055. PMID: 31785512

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