Persistent hyperplastic primary vitreus

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Classification according to ICD-10
Q14.0 Congenital malformation of the vitreous body
ICD-10 online (WHO version 2019)

The persistent hyperplastic primary vitreous (PHPV) is a very rare disorder of embryonic development with malformation of the glass body , wherein a fetal vasculature, the primary vitreous (precursor of the glass body) is maintained with a whitish vascularized connective tissue between the eye lens and entrance of the optic nerve ( blind spot ) and unilateral or bilateral leukocoria , and possibly microphthalmia , poor vision, and strabismus .

Scheme of persistent hyperplastic primary vitreus from the point of entry of the optic nerve to the lens with detachment of the dysplastic retina

Synonyms are: congenital retinal detachment; Persistent Fetal Vascular Structures (PFVS); NCRNA disease (Nonsyndromic Congenital Retinal Nonattachment)

The name was coined by the author of the first description from 1949 by the US ophthalmologist Algernon B Reese (1896-1981).

distribution

The frequency is not known.

root cause

There are currently two types of inheritance:

Clinical manifestations

Clinical criteria are:

  • Manifestation in newborn to toddler age
  • usually unilateral findings
  • often associated with microphthalmia, cataracts , glaucoma , strabismus, poor eyesight and (also partial) retinal detachment

Forms on both sides can often be found at:

Classification

The PHPV can be divided into an anterior and posterior form. Most of the time, however, there is a combination.

diagnosis

In addition to the ophthalmological examination ( ophthalmoscopy ), medical imaging using ultrasound , magnetic resonance or computed tomography is available.

Differential diagnosis

Other diseases in which the vitreous humor is no longer transparent, such as retinoblastoma or other rare tumors, must be distinguished .

During the ultrasound examination, the retinal detachment is mainly to be delineated.

In animals

The disease can also occur in dogs.

literature

  • M. Silbert, AS Gurwood: Persistent hyperplastic primary vitreous. In: Clinical eye and vision care. Vol. 12, No. 3-4, December 2000, pp. 131-137, PMID 11137427 .
  • S. Consul, A. Khuteja, P. Mathur: Persistent hyperplastic primary vitreous (PHPV in an adult-a case report). In: Indian journal of ophthalmology. Vol. 30, No. 1, January 1982, pp. 43-45, PMID 7141585 .

Individual evidence

  1. ↑ a b c d Radiopaedia
  2. ↑ a b [GeneReviews / NIH / NCBI / UW entry on NDP-Related Retinopathies Gene Reviews]
  3. ↑ a b Persistent hyperplastic primary vitreous. In: Orphanet (Rare Disease Database).
  4. ↑ Who named it
  5. ^ AB Reese: Persistence and hyperplasia of primary vitreous; retrolental fibroplasia; two entities. In: Archives of ophthalmology. Vol. 41, No. 5, May 1949, pp. 527-552, PMID 18128043 .
  6. ↑ Persistent hyperplastic primary vitreous, autosomal recessive.  In: Online Mendelian Inheritance in Man . (English)
  7. ↑ Persistent hyperplastic primary vitreous, autosomal dominant.  In: Online Mendelian Inheritance in Man . (English)
  8. ↑ M. Castillo, DK Wallace, SK Mukherji: Persistent hyperplastic primary vitreous involving the anterior eye. In: AJNR. American journal of neuroradiology. Vol. 18, No. 8, September 1997, pp. 1526-1528, PMID 9296195 .
  9. ↑ N. Pushker, MS Bajaj, AK Singh, G. Lokdarshi, p Bakhshi, S. Kashyap: Intra-ocular medulloepithelioma as a masquerade for PHPV and Panophthalmitis: a diagnostic dilemma. In: Saudi journal of ophthalmology: official journal of the Saudi Ophthalmological Society. Vol. 31, No. 2, 2017 Apr-Jun, pp. 109–111, doi : 10.1016 / j.sjopt.2017.02.004 , PMID 28559724 , PMC 5436372 (free full text).
  10. ↑ J. Ori, T. Yoshikai, S. Yoshimura, S. Takenaka: Persistent hyperplastic primary vitreous (PHPV) in two Siberian husky dogs. In: The Journal of veterinary medical science. Vol. 60, No. 2, February 1998, pp. 263-265, PMID 9524956 .