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Ocular Involvement in Primary Immunodeficiency Diseases

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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.

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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

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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Authors and Affiliations

  1. Research Center for Immunodeficiencies, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran

    Sima Hosseinverdi, Asghar Aghamohammadi & Nima Rezaei

  2. Noor Ophthalmology Research Center, Noor Eye Hospital, Tehran, Iran

    Hassan Hashemi

  3. Department of Pediatrics, University of Washington and Seattle Children’s Hospital Research Institute, Seattle, WA, USA

    Hans D. Ochs

  4. Molecular Immunology Research Center, Tehran University of Medical Sciences, Tehran, Iran

    Nima Rezaei

  5. Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran

    Nima Rezaei

  6. Department of Infection and Immunity, School of Medicine and Biomedical Sciences, The University of Sheffield, Sheffield, UK

    Nima Rezaei

  7. Children’s Medical Center Hospital, Dr Qarib St, Keshavarz Blvd, Tehran, 14194, Iran

    Nima Rezaei

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  1. Sima Hosseinverdi
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Hosseinverdi, S., Hashemi, H., Aghamohammadi, A. et al. Ocular Involvement in Primary Immunodeficiency Diseases. J Clin Immunol 34, 23–38 (2014). https://doi.org/10.1007/s10875-013-9974-2

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