Related Experiment Video
Updated: May 11, 2026

Forward Genetic Approaches in Chlamydia trachomatis
Published on: October 23, 2013
Molecular identification of bacterial DNA in the chorioretinal scars of chronic granulomatous disease
Yujuan Wang1, Beatriz E Marciano, Defen Shen
1Immunopathology Section, Laboratory of Immunology, National Eye Institute, National Institutes of Health, 10 Center Dr., 10/10N103, NIH/NEI, Bethesda, MD 20892-1857, USA.
Insights
Bacterial DNA was detected in most chorioretinal lesions associated with Chronic Granulomatous Disease (CGD). This finding suggests that bacterial infection may contribute to the development of these ocular lesions in CGD patients.
Area of Science:
- Ophthalmology
- Immunology
- Infectious Diseases
Background:
- Chronic Granulomatous Disease (CGD) is an inherited immune deficiency affecting phagocyte function.
- CGD leads to severe, recurrent bacterial and fungal infections.
- Chorioretinal lesions are a common ocular manifestation in CGD.
Purpose of the Study:
- To investigate the presence of infectious agents in chorioretinopathy associated with CGD.
- To determine if bacterial DNA can be identified within CGD-related chorioretinal lesions.
Main Methods:
- Retrospective review of medical records and ocular histopathology from CGD patients.
- Microdissection of chorioretinal cells from lesional and normal tissues.
- Polymerase chain reaction (PCR) using primers for specific bacteria and panbacterial 16S ribosomal DNA.
Main Results:
- Bacterial DNA (16S ribosomal DNA) was amplified in 7 of 8 (88%) CGD-associated chorioretinal lesions.
- Specific bacterial DNA (S. epidermidis, P. aeruginosa) was identified in some lesions.
- No microbial DNA was detected in normal, non-lesional ocular tissues from the same patients.
Conclusions:
- Bacterial DNA is frequently detected in CGD-associated chorioretinal lesions.
- Bacterial infection is implicated as a potential factor in the pathogenesis of these ocular lesions.
- Further research is warranted to understand the role of infection in CGD chorioretinopathy.
Purpose:
Chronic granulomatous disease (CGD) is an inherited disorder characterized by defects in phagocyte-derived nicotinamide adenine dinucleotide phosphate oxidase. It is typically diagnosed in childhood and leads to severe, recurrent bacterial or fungal infections. Chorioretinal lesions are the most common ocular manifestation. We sought to determine whether there are infectious agents in CGD-associated chorioretinopathy.
Methods:
Medical records and ocular histopathology from CGD cases from January 1983 to January 2012 at the National Institutes of Health were retrospectively reviewed. Chorioretinal cells from normal and lesional tissues of the same eye were microdissected. Primers for Staphylococcus epidermidis, Staphylococcus aureus, Pseudomonas aeruginosa, Burkholderia sp., and a panbacterial 16S ribosomal DNA were used for polymerase chain reaction.
Results:
Seventeen CGD patients had ocular tissues (16 autopsied cases and 1 chorioretinal biopsy) examined. Of these 17, 8 demonstrated CGD-associated chorioretinal lesions in at least one eye on histopathology. Of these 8, 7 showed amplification of 16S ribosomal DNA within the lesion; of these 7, two also amplified S. epidermidis and one P. aeruginosa. One had no bacterial DNA amplified. Importantly, no microbial DNA was amplified from the normal, non-lesional ocular tissues of these 8 cases. Furthermore, only 1 of the 9 eyes without chorioretinopathy had amplified Burkholderia DNA, that patient had a history of Burkholderia infection.
Conclusions:
We detected bacterial DNA in 7 of 8 (88%) cases with CGD-associated chorioretinopathy and only in 1 normal ocular tissue of 17 CGD cases. Bacterial infection may play a role in the pathogenesis of CGD-associated chorioretinal lesions.

