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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

Abstract

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.

Keywords

Primary immunodeficiency diseases ophthalmic manifestations uveitis infection 

Abbreviations

AT

Ataxia telangiectasia

ATLD

Ataxia telangiectasia like disorder

APECED

Autoimmune Polyendocrinopathy candidiasis ectodermal dystrophy

BS

Bloom syndrome

BTK

Bruton tyrosine kinase

CVID

Common variable immunodeficiency

CMV

Cytomegalovirus

CGD

Chronic granulomatous disease

CHS

Chediak- Higashi syndrome

CMC

Chronic mucocutaneous candidiasis

CINCA

Chronic infantile neurological cutaneous and articular syndrome

CFH

Complement factor H

DGS

DiGeorge syndrome

DC

Dyskeratosis congenital

EV

Epidermodysplasia verruciformis

GS

Griscelli syndrome

HPV

Human papilloma virus

HIES

Hyper IgE syndromes

HPS

Hermansky-pudlak syndrome

MVK

Mevalonate kinase deficiency

NOMID

Neonatal onset multisystem inflammatory disorder

NBS

Nijmegen breakage syndrome

PID

Primary immunodeficiency

PLS

Papillon–Lefèvre syndrome

SCID

Severe combined immunodeficiency

WAS

Wiskott-Aldrich syndrome

XLA

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.

Iridophacodonesis

Abnormal trembling of the iris and lens during ocular movement

Phtisis bulbi

Nonfunctional, atrophic and disorganized globe

Ectropion

Turning out of the eye lid (usually lower lid)

Entropion

Turning in of the eye lid (usually lower lid)

Trichiasis

Misdirection of the eyelashes toward the globe

Descemetocele

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

Staphyloma

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

Lagophthalmos

Inability to complete eyelid closure

Spherophakia

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

Anisometropia

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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