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Myopia, high, with cataract and vitreoretinal degeneration(MCVD)

MedGen UID:
481976
Concept ID:
C3280346
Disease or Syndrome
Synonym: MCVD
 
Gene (location): P3H2 (3q28)
 
Monarch Initiative: MONDO:0013670
OMIM®: 614292

Clinical features

From HPO
Vitreous floaters
MedGen UID:
5217
Concept ID:
C0016242
Finding
Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humor, which is normally transparent.
Lens subluxation
MedGen UID:
9718
Concept ID:
C0023316
Disease or Syndrome
Partial dislocation of the lens of the eye.
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.
Lattice retinal degeneration
MedGen UID:
102321
Concept ID:
C0154856
Disease or Syndrome
High myopia
MedGen UID:
78759
Concept ID:
C0271183
Disease or Syndrome
A severe form of myopia with greater than -6.00 diopters.
Peripheral vitreoretinal degeneration
MedGen UID:
481979
Concept ID:
C3280349
Finding
A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina.
Mildly reduced visual acuity
MedGen UID:
1671080
Concept ID:
C4732817
Finding
Mild reduction of the ability to see. On the 6m visual acuity scale, mild reduction is defined as less than 6/12 but at least 6/18. On the 20ft visual acuity scale, mild reduction is defined as less than 20/40 but at least 20/70. On the decimal visual acuity scale, mild reduction is defined as less than 0.5 but at least 0.3.

Recent clinical studies

Etiology

Chandra A, Banerjee P, Davis D, Charteris D
Eye (Lond) 2015 Jun;29(6):803-7. Epub 2015 Mar 27 doi: 10.1038/eye.2015.43. PMID: 25853394Free PMC Article
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

Mordechai S, Gradstein L, Pasanen A, Ofir R, El Amour K, Levy J, Belfair N, Lifshitz T, Joshua S, Narkis G, Elbedour K, Myllyharju J, Birk OS
Am J Hum Genet 2011 Sep 9;89(3):438-45. Epub 2011 Sep 1 doi: 10.1016/j.ajhg.2011.08.003. PMID: 21885030Free PMC Article
Sarra GM, Weigell-Weber M, Kotzot D, Niemeyer G, Messmer E, Hergersberg M
Arch Ophthalmol 2003 Aug;121(8):1109-16. doi: 10.1001/archopht.121.8.1109. PMID: 12912687
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

Clinical prediction guides

Mordechai S, Gradstein L, Pasanen A, Ofir R, El Amour K, Levy J, Belfair N, Lifshitz T, Joshua S, Narkis G, Elbedour K, Myllyharju J, Birk OS
Am J Hum Genet 2011 Sep 9;89(3):438-45. Epub 2011 Sep 1 doi: 10.1016/j.ajhg.2011.08.003. PMID: 21885030Free PMC Article
Sarra GM, Weigell-Weber M, Kotzot D, Niemeyer G, Messmer E, Hergersberg M
Arch Ophthalmol 2003 Aug;121(8):1109-16. doi: 10.1001/archopht.121.8.1109. PMID: 12912687
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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