Chorioretinal lesions in patients and carriers of chronic granulomatous disease

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D Goldblatt1, J Butcher, A J Thrasher

  • 1Immunobiology Unit and Molecular Immunology Units, Institute of Child Health, The Great Ormond Street Children's Hospital, London, United Kingdom.

The Journal of Pediatrics
|June 4, 1999
PubMed

Insights

Retinal lesions are common in patients with X-linked chronic granulomatous disease (CGD), affecting nearly a quarter of those studied. Surprisingly, some asymptomatic carriers of X-linked CGD also exhibited these characteristic chorioretinal abnormalities.

Area of Science:

  • Ophthalmology
  • Immunology
  • Genetics

Background:

  • Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder characterized by impaired phagocyte oxidative burst.
  • Retinal involvement in CGD is not well-documented, necessitating further investigation into its prevalence and characteristics.

Purpose of the Study:

  • To determine the frequency of retinal lesions in patients diagnosed with CGD.
  • To identify potential retinal abnormalities in carriers of CGD, particularly X-linked forms.

Main Methods:

  • A cohort of 74 individuals from 33 families, including 38 CGD patients (30 X-linked, 8 autosomal recessive) and 33 controls, were recruited.
  • Ophthalmic examinations included visual acuity, slit-lamp anterior segment assessment, and dilated funduscopy.

Main Results:

  • Chorioretinal lesions were observed in 9 out of 38 (23.7%) CGD patients, all with X-linked CGD and gp91(phox) deficiency.
  • The typical retinal finding was "punched out" chorioretinal lesions with pigment clumping near major retinal vessels.
  • Notably, 3 asymptomatic carriers of X-linked CGD also presented with these characteristic retinal lesions.

Conclusions:

  • Retinal lesions are relatively common in patients with X-linked CGD.
  • Ophthalmologists should screen for these lesions in individuals with X-linked CGD as they may impact vision.
  • The presence of similar lesions in asymptomatic carriers suggests a potential role in carrier identification or disease manifestation.
Abstract

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