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Persistent hyperplastic primary vitreous, autosomal recessive(PHPVAR)

MedGen UID:
341740
Concept ID:
C1857299
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
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
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

Microphthalmos
MedGen UID:
504501
Concept ID:
CN000533
Finding
A developmental anomaly characterized by abnormal smallness of one or both eyes.
Corneal opacity
MedGen UID:
40485
Concept ID:
C0010038
Finding
clouding that can occur in the transparent part of the coat of the eyeball or cornea, secondary to inflammation, infection or irritant exposure by a foreign body or chemical.
Phthisis bulbi
MedGen UID:
124382
Concept ID:
C0271007
Pathologic Function
Persistent hyperplastic primary vitreous
MedGen UID:
339474
Concept ID:
C1846267
Finding
Cataract
MedGen UID:
368085
Concept ID:
C1962983
Finding
Uveitis
MedGen UID:
368450
Concept ID:
C1963266
Finding
Retinal dysplasia
MedGen UID:
372635
Concept ID:
C1970771
Finding
Microcornea
MedGen UID:
504458
Concept ID:
CN000450
Finding
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.
Leukocoria
MedGen UID:
504494
Concept ID:
CN000521
Finding
An abnormal white reflection from the pupil rather than the usual black reflection.
Buphthalmos
MedGen UID:
504496
Concept ID:
CN000523
Finding
Buphthalmos refers to a congenital open-angle glaucoma of the eye. The term buphthalmos (from Greek 'bous' or ox and 'ophthalmos' or eye) is descriptive of an enlarged eyeglobe resulting from increased intraocular pressure. The eyeglobe is especially prone to distension in newborns and infants because its collagen filaments are not as rigid as in adults and may easily be stretched.
Esotropia
MedGen UID:
504499
Concept ID:
CN000530
Finding
A form of strabismus with one or both eyes turned inward ('crossed').
Microphthalmos
MedGen UID:
504501
Concept ID:
CN000533
Finding
A developmental anomaly characterized by abnormal smallness of one or both eyes.
Shallow anterior chamber
MedGen UID:
504515
Concept ID:
CN000557
Finding
Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased.
Iris coloboma
MedGen UID:
504523
Concept ID:
CN000574
Finding
A coloboma of the iris.
Falciform retinal fold
MedGen UID:
504844
Concept ID:
CN001367
Finding
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.
Retinal nonattachment
MedGen UID:
429160
Concept ID:
CN006936
Finding
Failure of attachment of the retina during development.
Persistent pupillary membrane
MedGen UID:
506338
Concept ID:
CN008755
Finding
The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil.
Posterior synechiae of the anterior chamber
MedGen UID:
507129
Concept ID:
CN167212
Finding
Adhesions between the iris and the lens.
Hyphema
MedGen UID:
807919
Concept ID:
CN167613
Finding
Bleeding in the anterior chamber of the eye.
Pendular nystagmus
MedGen UID:
506653
Concept ID:
CN167769
Finding
Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.
Hyphema
MedGen UID:
807919
Concept ID:
CN167613
Finding
Bleeding in the anterior chamber of the eye.
Hyphema
MedGen UID:
807919
Concept ID:
CN167613
Finding
Bleeding in the anterior chamber of the eye.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGPersistent hyperplastic primary vitreous, autosomal recessive

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. 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. 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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