Journal of Clinical Immunology

, Volume 34, Issue 1, pp 23–38 | Cite as

Ocular Involvement in Primary Immunodeficiency Diseases

  • Sima Hosseinverdi
  • Hassan Hashemi
  • Asghar Aghamohammadi
  • Hans D. Ochs
  • Nima Rezaei
Key Review Article


Primary immunodeficiency diseases (PID) are a group of inherited disorders characterized by recurrent infections, and in many cases autoimmunity and malignancies. A number of PID patients suffer from a variety of ocular manifestations. Although these associated ocular features are not common, awareness combined with better understanding of the contributing mechanisms will allow prompt diagnosis and specific treatment, leading to reduction or prevention of serious visual morbidities.


Primary immunodeficiency diseases ophthalmic manifestations uveitis infection 



Ataxia telangiectasia


Ataxia telangiectasia like disorder


Autoimmune Polyendocrinopathy candidiasis ectodermal dystrophy


Bloom syndrome


Bruton tyrosine kinase


Common variable immunodeficiency




Chronic granulomatous disease


Chediak- Higashi syndrome


Chronic mucocutaneous candidiasis


Chronic infantile neurological cutaneous and articular syndrome


Complement factor H


DiGeorge syndrome


Dyskeratosis congenital


Epidermodysplasia verruciformis


Griscelli syndrome


Human papilloma virus


Hyper IgE syndromes


Hermansky-pudlak syndrome


Mevalonate kinase deficiency


Neonatal onset multisystem inflammatory disorder


Nijmegen breakage syndrome


Primary immunodeficiency


Papillon–Lefèvre syndrome


Severe combined immunodeficiency


Wiskott-Aldrich syndrome


X-linked agammaglobulinemia

Definition of Described Ocular Diseases or Abnormalities

Bull’s eye maculopathy

Area of hyperpigmentation in the fovea surrounded by a zone of depigmentation.


Abnormal trembling of the iris and lens during ocular movement

Phtisis bulbi

Nonfunctional, atrophic and disorganized globe


Turning out of the eye lid (usually lower lid)


Turning in of the eye lid (usually lower lid)


Misdirection of the eyelashes toward the globe


Herniation of Descemet’s membrane (one of the last corneal layer) through the cornea


Protrusion of the uveal tissue through a weak point in the eyeball

Peter’s anomaly

Peter’s anomaly is a specific mesenchymal anterior segment dysgenesis, in which there is central corneal leukoma, adhesions of the iris and cornea, and abnormalities of the posterior corneal stroma, Descemet’s membrane, corneal endothelium, lens, and anterior chamber

Marcus Gunn’s phenomenon

Involuntary eyelid closure with jaw movement


Inability to complete eyelid closure


A congenital bilateral anomaly in which the lens of the eye is small, spherical, and prone to subluxation

Koeppe’s nodules and Busacca nodules

Koeppe nodules are small nodules located on the pupillary border. Busacca nodules are usually larger nodules located on the mid periphery of the iris


A condition in which the two eyes have unequal refractive power


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Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Sima Hosseinverdi
    • 1
  • Hassan Hashemi
    • 2
  • Asghar Aghamohammadi
    • 1
  • Hans D. Ochs
    • 3
  • Nima Rezaei
    • 1
    • 4
    • 5
    • 6
    • 7
  1. 1.Research Center for Immunodeficiencies, Children’s Medical CenterTehran University of Medical SciencesTehranIran
  2. 2.Noor Ophthalmology Research CenterNoor Eye HospitalTehranIran
  3. 3.Department of PediatricsUniversity of Washington and Seattle Children’s Hospital Research InstituteSeattleUSA
  4. 4.Molecular Immunology Research CenterTehran University of Medical SciencesTehranIran
  5. 5.Department of Immunology, School of MedicineTehran University of Medical SciencesTehranIran
  6. 6.Department of Infection and Immunity, School of Medicine and Biomedical SciencesThe University of SheffieldSheffieldUK
  7. 7.Children’s Medical Center HospitalTehranIran

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