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Snowflake vitreoretinal degeneration(SVD)

MedGen UID:
395476
Concept ID:
C1860405
Disease or Syndrome
Synonyms: Snowflake degeneration in hereditary vitreoretinal degeneration; SVD
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): KCNJ13 (2q37.1)
 
HPO: HP:0011533
Monarch Initiative: MONDO:0008663
OMIM®: 193230
Orphanet: ORPHA91496

Definition

The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous. [from HPO]

Clinical features

From HPO
Retinal detachment
MedGen UID:
19759
Concept ID:
C0035305
Disease or Syndrome
Primary or spontaneous detachment of the retina occurs due to underlying ocular disease and often involves the vitreous as well as the retina. The precipitating event is formation of a retinal tear or hole, which permits fluid to accumulate under the sensory layers of the retina and creates an intraretinal cleavage that destroys the neurosensory process of visual reception. Vitreoretinal degeneration and tear formation are painless phenomena, and in most cases, significant vitreoretinal pathology is found only after detachment of the retina starts to cause loss of vision or visual field. Without surgical intervention, retinal detachment will almost inevitably lead to total blindness (summary by McNiel and McPherson, 1971).
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Corneal guttata
MedGen UID:
488833
Concept ID:
C0271288
Finding
Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible.
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.
Optically empty vitreous
MedGen UID:
892643
Concept ID:
C4073118
Anatomical Abnormality
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.
Retinal dots
MedGen UID:
1671040
Concept ID:
C4732809
Finding
Yellow, white or grayish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSnowflake vitreoretinal degeneration
Follow this link to review classifications for Snowflake vitreoretinal degeneration in Orphanet.

Conditions with this feature

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

Schroeder M, Peter VG, Gränse L, Andréasson S, Rivolta C, Kjellström U
Ophthalmic Genet 2022 Aug;43(4):500-507. Epub 2022 Apr 27 doi: 10.1080/13816810.2022.2068041. PMID: 35477418
Jiao X, Ritter R 3rd, Hejtmancik JF, Edwards AO
Invest Ophthalmol Vis Sci 2004 Dec;45(12):4498-503. doi: 10.1167/iovs.04-0722. PMID: 15557460
Lee MM, Ritter R 3rd, Hirose T, Vu CD, Edwards AO
Ophthalmology 2003 Dec;110(12):2418-26. doi: 10.1016/S0161-6420(03)00828-5. PMID: 14644728

Diagnosis

Ashkenazy N, Sengillo JD, Iyer PG, Negron CI, Yannuzzi NA, Berrocal AM
Ophthalmic Genet 2023 Oct;44(5):505-508. Epub 2022 Nov 28 doi: 10.1080/13816810.2022.2149816. PMID: 36440807
Kumar M, Pattnaik BR
Channels (Austin) 2014;8(6):488-95. doi: 10.4161/19336950.2014.959809. PMID: 25558901Free PMC Article
Hejtmancik JF, Jiao X, Li A, Sergeev YV, Ding X, Sharma AK, Chan CC, Medina I, Edwards AO
Am J Hum Genet 2008 Jan;82(1):174-80. doi: 10.1016/j.ajhg.2007.08.002. PMID: 18179896Free PMC Article
Jiao X, Ritter R 3rd, Hejtmancik JF, Edwards AO
Invest Ophthalmol Vis Sci 2004 Dec;45(12):4498-503. doi: 10.1167/iovs.04-0722. PMID: 15557460
Lee MM, Ritter R 3rd, Hirose T, Vu CD, Edwards AO
Ophthalmology 2003 Dec;110(12):2418-26. doi: 10.1016/S0161-6420(03)00828-5. PMID: 14644728

Prognosis

Hernandez CC, Gimenez LE, Dahir NS, Peisley A, Cone RD
Am J Physiol Cell Physiol 2023 Mar 1;324(3):C694-C706. Epub 2023 Jan 30 doi: 10.1152/ajpcell.00335.2022. PMID: 36717105Free PMC Article
Edwards AO
Eye (Lond) 2008 Oct;22(10):1233-42. Epub 2008 Feb 29 doi: 10.1038/eye.2008.38. PMID: 18309337
Hejtmancik JF, Jiao X, Li A, Sergeev YV, Ding X, Sharma AK, Chan CC, Medina I, Edwards AO
Am J Hum Genet 2008 Jan;82(1):174-80. doi: 10.1016/j.ajhg.2007.08.002. PMID: 18179896Free PMC Article
Lee MM, Ritter R 3rd, Hirose T, Vu CD, Edwards AO
Ophthalmology 2003 Dec;110(12):2418-26. doi: 10.1016/S0161-6420(03)00828-5. PMID: 14644728
Pollack A, Uchenik D, Chemke J, Oliver M
Arch Ophthalmol 1983 Oct;101(10):1536-9. doi: 10.1001/archopht.1983.01040020538005. PMID: 6626003

Clinical prediction guides

Hernandez CC, Gimenez LE, Dahir NS, Peisley A, Cone RD
Am J Physiol Cell Physiol 2023 Mar 1;324(3):C694-C706. Epub 2023 Jan 30 doi: 10.1152/ajpcell.00335.2022. PMID: 36717105Free PMC Article
Pattnaik BR, Shahi PK, Marino MJ, Liu X, York N, Brar S, Chiang J, Pillers DA, Traboulsi EI
Hum Mutat 2015 Jul;36(7):720-7. Epub 2015 May 20 doi: 10.1002/humu.22807. PMID: 25921210
Hejtmancik JF, Jiao X, Li A, Sergeev YV, Ding X, Sharma AK, Chan CC, Medina I, Edwards AO
Am J Hum Genet 2008 Jan;82(1):174-80. doi: 10.1016/j.ajhg.2007.08.002. PMID: 18179896Free PMC Article
Jiao X, Ritter R 3rd, Hejtmancik JF, Edwards AO
Invest Ophthalmol Vis Sci 2004 Dec;45(12):4498-503. doi: 10.1167/iovs.04-0722. PMID: 15557460
Donoso LA, Edwards AO, Frost AT, Ritter R 3rd, Ahmad N, Vrabec T, Rogers J, Meyer D, Parma S
Surv Ophthalmol 2003 Mar-Apr;48(2):191-203. doi: 10.1016/s0039-6257(02)00460-5. PMID: 12686304

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