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Persistent hyperplastic primary vitreous, autosomal recessive(PHPVAR)

MedGen UID:
341740
Concept ID:
C1857299
Congenital Abnormality; Disease or Syndrome
Synonyms: PERSISTENT FETAL VASCULATURE; PHPVAR; Retinal nonattachment and falciform detachment; Retinal nonattachment, nonsyndromic congenital
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: HPO
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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: HPO
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
OMIM®: 221900
Orphanet: ORPHA300337

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

Hyphema
MedGen UID:
9379
Concept ID:
C0020581
Pathologic Function
Bleeding in the anterior chamber of the eye.
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').
Glaucoma, congenital
MedGen UID:
42532
Concept ID:
C0020302
Disease or Syndrome
Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haabs striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing (hyperlacrimation). Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated cases, blindness invariably occurs.
Hyphema
MedGen UID:
9379
Concept ID:
C0020581
Pathologic Function
Bleeding in the anterior chamber of the eye.
Microphthalmos
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.People 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.People 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.Between 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.
Retinal dysplasia
MedGen UID:
48433
Concept ID:
C0035313
Congenital Abnormality
The presence of developmental dysplasia of the retina.
Uveitis
MedGen UID:
52961
Concept ID:
C0042164
Disease or Syndrome
Inflammation of one or all portions of the uveal tract.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Acquired Abnormality
A cataract is a clouding of the lens in your eye. It affects your vision. Cataracts are very common in older people. By age 80, more than half of all Americans either have a cataract or have had cataract surgery. A cataract can occur in either or both eyes. It cannot spread from one eye to the other. Common symptoms are. -Blurry vision. -Colors that seem faded. -Glare - headlights, lamps or sunlight may seem too bright. You may also see a halo around lights. -Not being able to see well at night. -Double vision . -Frequent prescription changes in your eye wear . Cataracts usually develop slowly. New glasses, brighter lighting, anti-glare sunglasses or magnifying lenses can help at first. Surgery is also an option. It involves removing the cloudy lens and replacing it with an artificial lens. Wearing sunglasses and a hat with a brim to block ultraviolet sunlight may help to delay cataracts. NIH: National Eye Institute.
Posterior synechiae
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.
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
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. This condition is known as Persistent Hyperplastic Primary Vitreous (PHPV).
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.
Congenital retinal fold
MedGen UID:
488857
Concept ID:
C0344550
Congenital Abnormality
An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset.
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.
Retinal fold
MedGen UID:
870307
Concept ID:
C4024749
Anatomical Abnormality
A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy.
Hyphema
MedGen UID:
9379
Concept ID:
C0020581
Pathologic Function
Bleeding in the anterior chamber of the eye.
Uveitis
MedGen UID:
52961
Concept ID:
C0042164
Disease or Syndrome
Inflammation of one or all portions of the uveal tract.
Microphthalmos
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.People 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.People 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.Between 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.
Iris coloboma
MedGen UID:
116097
Concept ID:
C0240063
Anatomical Abnormality
A coloboma of the iris.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPersistent hyperplastic primary vitreous, autosomal recessive
Follow this link to review classifications for Persistent hyperplastic primary vitreous, autosomal recessive in Orphanet.

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. [Epub ahead of print] 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

Shastry BS
Clin Experiment 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. 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

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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