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Persistent hyperplastic primary vitreous, autosomal recessive(PHPVAR)

MedGen UID:
370100
Concept ID:
C1969783
Disease or Syndrome
Synonyms: PERSISTENT FETAL VASCULATURE; PHPVAR; Retinal nonattachment and falciform detachment; Retinal nonattachment, nonsyndromic congenital
 
Gene (location): ATOH7 (10q21.3)
 
Monarch Initiative: MONDO:0009097
OMIM®: 221900

Definition

Persistent hyperplastic primary vitreous (PHPV), also termed 'persistent fetal vasculature,' is a developmental malformation of the eye in which the primary vitreous fails to regress in utero, resulting in the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. This abnormality is usually unilateral and associated with microphthalmia, cataract, glaucoma, and congenital retinal nonattachment (see Haddad et al., 1978; Khaliq et al., 2001; Prasov et al., 2012). PHPV shares phenotypic overlap with Norrie disease (310600). Genetic Heterogeneity of Persistent Hyperplastic Primary Vitreous A dominant form of PHPV has been described (PHPVAD; 611308). [from OMIM]

Clinical features

From HPO
Uveitis
MedGen UID:
52961
Concept ID:
C0042164
Disease or Syndrome
Inflammation of one or all portions of the uveal tract.
Corneal opacity
MedGen UID:
40485
Concept ID:
C0010038
Finding
A reduction of corneal clarity.
Esotropia
MedGen UID:
4550
Concept ID:
C0014877
Disease or Syndrome
A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.
Glaucoma
MedGen UID:
42224
Concept ID:
C0017601
Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Hyphema
MedGen UID:
9379
Concept ID:
C0020581
Pathologic Function
Bleeding in the anterior chamber of the eye.
Microphthalmia
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
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.
Posterior synechiae of the anterior chamber
MedGen UID:
488784
Concept ID:
C0152253
Disease or Syndrome
Adhesions between the iris and the lens.
Leukocoria
MedGen UID:
57540
Concept ID:
C0152458
Disease or Syndrome
An abnormal white reflection from the pupil rather than the usual black reflection.
Retinal fold
MedGen UID:
115826
Concept ID:
C0229197
Finding
A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy.
Iris coloboma
MedGen UID:
116097
Concept ID:
C0240063
Anatomical Abnormality
A coloboma of the iris.
Microcornea
MedGen UID:
78610
Concept ID:
C0266544
Congenital Abnormality
A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.
Persistent hyperplastic primary vitreous
MedGen UID:
120583
Concept ID:
C0266568
Congenital Abnormality
Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract.
Phthisis bulbi
MedGen UID:
124382
Concept ID:
C0271007
Finding
Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease.
Pendular nystagmus
MedGen UID:
78770
Concept ID:
C0271388
Disease or Syndrome
Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.
Persistent pupillary membrane
MedGen UID:
138009
Concept ID:
C0344541
Congenital Abnormality
The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil.
Shallow anterior chamber
MedGen UID:
602215
Concept ID:
C0423276
Finding
Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased.
Retinal nonattachment
MedGen UID:
867205
Concept ID:
C4021563
Congenital Abnormality
Failure of attachment of the retina during development.
Buphthalmos
MedGen UID:
1641795
Concept ID:
C4551507
Congenital Abnormality
Diffusely large eye (with megalocornea) associated with glaucoma.
Ultra-low vision with no light perception
MedGen UID:
1693914
Concept ID:
C5139244
Finding
Ultra-low vision with complete lack of light and form perception.

Recent clinical studies

Etiology

Gal M, Levanon EY, Hujeirat Y, Khayat M, Pe'er J, Shalev S
Am J Med Genet A 2014 Dec;164A(12):2996-3002. Epub 2014 Sep 22 doi: 10.1002/ajmg.a.36739. PMID: 25250762
Yu YS, Chang BL
Korean J Ophthalmol 1997 Dec;11(2):123-5. doi: 10.3341/kjo.1997.11.2.123. PMID: 9510656

Diagnosis

Bayram N, Bayram AK, Per H, Gümüş H, Ozsaygili C, Doğan MS, Çağlayan AO
Eur J Ophthalmol 2022 Sep;32(5):NP71-NP76. Epub 2021 May 12 doi: 10.1177/11206721211016306. PMID: 33977792
Kheir V, Munier FL, Aubry-Rozier B, Schorderet DF
Osteoporos Int 2016 Feb;27(2):841-4. Epub 2015 Aug 5 doi: 10.1007/s00198-015-3245-4. PMID: 26243358
Shastry BS
Clin Exp Ophthalmol 2009 Dec;37(9):884-90. doi: 10.1111/j.1442-9071.2009.02150.x. PMID: 20092598
Burke JP, O'Keefe M
Acta Ophthalmol (Copenh) 1988 Dec;66(6):731-3. doi: 10.1111/j.1755-3768.1988.tb04072.x. PMID: 3232519

Prognosis

Katoh M, Katoh M
Int J Mol Med 2003 Nov;12(5):817-21. PMID: 14533015
Yu YS, Chang BL
Korean J Ophthalmol 1997 Dec;11(2):123-5. doi: 10.3341/kjo.1997.11.2.123. PMID: 9510656

Clinical prediction guides

Kheir V, Munier FL, Aubry-Rozier B, Schorderet DF
Osteoporos Int 2016 Feb;27(2):841-4. Epub 2015 Aug 5 doi: 10.1007/s00198-015-3245-4. PMID: 26243358
Katoh M, Katoh M
Int J Mol Med 2003 Nov;12(5):817-21. PMID: 14533015
Khaliq S, Hameed A, Ismail M, Anwar K, Leroy B, Payne AM, Bhattacharya SS, Mehdi SQ
Invest Ophthalmol Vis Sci 2001 Sep;42(10):2225-8. PMID: 11527934

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