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Optically empty vitreous

MedGen UID:
892643
Concept ID:
C4073118
Anatomical Abnormality
HPO: HP:0030663

Definition

Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOptically empty vitreous

Conditions with this feature

Stickler syndrome, type I, nonsyndromic ocular
MedGen UID:
322820
Concept ID:
C1836080
Disease or Syndrome
Wagner syndrome
MedGen UID:
326741
Concept ID:
C1840452
Disease or Syndrome
VCAN-related vitreoretinopathy, which includes Wagner syndrome and erosive vitreoretinopathy (ERVR), is characterized by "optically empty vitreous" on slit-lamp examination and avascular vitreous strands and veils, mild or occasionally moderate to severe myopia, presenile cataract, night blindness of variable degree associated with progressive chorioretinal atrophy, retinal traction and retinal detachment in the advanced stages of disease, and reduced visual acuity. Optic nerve inversion as well as uveitis has also been described. Systemic abnormalities are not observed. The first signs usually become apparent during early adolescence, but onset can be as early as age two years.
Snowflake vitreoretinal degeneration
MedGen UID:
395476
Concept ID:
C1860405
Disease or Syndrome
The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous.

Recent clinical studies

Etiology

Taylor K, Su M, Richards Z, Mamawalla M, Rao P, Chang E
Ophthalmol Retina 2023 Oct;7(10):848-856. Epub 2023 Jun 23 doi: 10.1016/j.oret.2023.06.012. PMID: 37356493
Ahmadieh H, Banaee T, Javadi MA, Jafarinasab MR, Yazdani S, Sajjadi H
Jpn J Ophthalmol 2006 Nov-Dec;50(6):515-523. Epub 2006 Dec 18 doi: 10.1007/s10384-006-0370-9. PMID: 17180525
Vu CD, Brown J Jr, Körkkö J, Ritter R 3rd, Edwards AO
Ophthalmology 2003 Jan;110(1):70-7. doi: 10.1016/s0161-6420(02)01446-x. PMID: 12511349

Diagnosis

Taylor K, Su M, Richards Z, Mamawalla M, Rao P, Chang E
Ophthalmol Retina 2023 Oct;7(10):848-856. Epub 2023 Jun 23 doi: 10.1016/j.oret.2023.06.012. PMID: 37356493
Li H, Li H, Yang L, Sun Z, Wu S, Sui R
Ophthalmic Genet 2020 Oct;41(5):432-439. Epub 2020 Jul 6 doi: 10.1080/13816810.2020.1786843. PMID: 32623950
Vu CD, Brown J Jr, Körkkö J, Ritter R 3rd, Edwards AO
Ophthalmology 2003 Jan;110(1):70-7. doi: 10.1016/s0161-6420(02)01446-x. PMID: 12511349
Bowling EL, Brown MD, Trundle TV
Optometry 2000 Mar;71(3):177-82. PMID: 10970261
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

Prognosis

Edwards AO
Eye (Lond) 2008 Oct;22(10):1233-42. Epub 2008 Feb 29 doi: 10.1038/eye.2008.38. PMID: 18309337
Godel V, Nemet P, Lazar M
Doc Ophthalmol 1981 Dec 16;52(2):179-88. doi: 10.1007/BF01675204. PMID: 7035111

Clinical prediction guides

Vu CD, Brown J Jr, Körkkö J, Ritter R 3rd, Edwards AO
Ophthalmology 2003 Jan;110(1):70-7. doi: 10.1016/s0161-6420(02)01446-x. PMID: 12511349

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