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[National protocol for diagnosis and care of congenital aniridia: Summary for the attending physician]

D Bremond-Gignac1, M Robert2, A Daruich1

  • 1Service d'ophtalmologie, centre hospitalier universitaire Necker-Enfants Malades, AP-HP, université de Paris, 149, rue de Sèvres, 75015 Paris, France; Inserm 1138, T17, université de Paris, Paris, France; OPHTARA, Coordonnateur centre de maladies rares en ophtalmologie (CRMR), Filière Sensgene, centre hospitalier universitaire Necker-Enfants Malades, Paris, France.

Journal Francais D'Ophtalmologie
|June 6, 2022
PubMed

Insights

Congenital aniridia, a rare genetic eye disease, involves iris absence and potential blindness. Early diagnosis and specialized care are crucial for managing ocular and systemic complications, improving patient quality of life.

Area of Science:

  • Ophthalmology
  • Genetics
  • Pediatrics

Background:

  • Congenital aniridia is a rare panocular disease characterized by the absence of iris tissue, often linked to PAX6 gene mutations.
  • It is an autosomal dominant condition with high penetrance, affecting approximately 1 in 40,000 to 1 in 96,000 births.
  • Ocular manifestations include corneal opacification, glaucoma, cataracts, and foveal hypoplasia, progressing with age.

Purpose of the Study:

  • To outline the diagnostic and management protocols for congenital aniridia.
  • To highlight the spectrum of ocular and systemic associations.
  • To emphasize the importance of multidisciplinary care and rehabilitation for affected individuals.

Main Methods:

  • Review of the national diagnostic and care protocol (PNDS) for congenital aniridia.
  • Analysis of ocular and systemic manifestations based on clinical presentation and genetic factors.
  • Description of management strategies, including medical, surgical, and medico-socio-educational interventions.

Main Results:

  • Congenital aniridia presents with nystagmus, visual impairment, and photophobia in early infancy.
  • Associated conditions include WAGR syndrome, Gillespie syndrome, and systemic issues like diabetes.
  • Progressive ocular disorders necessitate proactive and responsive management.

Conclusions:

  • Congenital aniridia requires specialized, lifelong care due to its progressive nature and potential for severe visual impairment.
  • Ruling out syndromic forms and addressing systemic associations are critical.
  • Rehabilitation and support services are essential to mitigate disability and enhance autonomy.

Keywords:
Aniridie congénitaleCataractCataracteCongenital aniridiaFoveal hypoplasiaGillespie syndromeGlaucomaGlaucomeGène PAX6Handicap visuelHypoplasie fovéolairePAX6 geneSyndrome WAGRSyndrome de GillespieVisual impairmentWAGR syndrome

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