ABSTRACT
Early diagnosis of primary immunodeficiencies is crucial for timely treatment and preventing unwanted complications. Next-generation sequencing (NGS) and detailed clinical and immunological evaluation can help early detect such disorders. This study aimed to confirm the diagnosis of two cases of autosomal recessive hyper-immunoglobulin E (IgE) syndrome (AR-HIES), presenting with irreversible eye involvement. Two unrelated patients with suspected AR-HIES were referred to the Immunology, Asthma and Allergy Research Institute (IAARI), Tehran, Iran. Immunological screening tests were performed for AR-HIES, which showed elevated serum IgE levels, eosinophilia, and low T-lymphocyte responses. NGS was performed, and the results were confirmed by Sanger sequencing. Sequence analysis showed a mutation in intron 17 of the dedicator of cytokinesis 8 (DOCK8) gene in the first patient, and a homozygous three base-pair deletion in exon 45 of DOCK8 in the second patient. This is the first time such mutations are reported and these variants are predicted to be damaging. Both patients suffered from persistent viral infections along with cytomegalovirus (CMV) retinitis. Suspicion of these two novel DOCK8 mutations can benefit patients presenting with recalcitrant ophthalmic viral involvements and relevant immunological test results. This would lead to earlier referrals for immunologic and genetic confirmation and thus, a more timely intervention with hematopoietic stem cell transplantation (HSCT).
Subject(s)
Cytokinesis , Job Syndrome , Guanine Nucleotide Exchange Factors/genetics , Humans , Immunoglobulin E/genetics , Iran , Job Syndrome/diagnosis , Job Syndrome/genetics , MutationABSTRACT
PURPOSE: This study reports the findings in a large series of patients with acute bacterial endophthalmitis after intravitreal injection of bevacizumab (IVB) in two eye hospitals. METHODS: Medical records were reviewed for patients who presented with acute fulminant endophthalmitis in one or two eyes following intravitreal injection of bevacizumab from two separate batches in two eye hospitals. RESULTS: Twenty-eight eyes of 21 patients presented with acute endophthalmitis 12-48 hours after IVB injection. Cultures from the eyes and the vials were positive for E. coli and Citrobacter, each in one of the hospitals. All patients were initially treated with topical, intravitreal, and systemic antibiotics. Twenty-four eyes underwent pars plana vitrectomy. Best corrected visual acuity (BCVA) was 1.27 ± 0.89 logMAR before IVB injecti,on which decreased to 2.80 ± 0.45 LogMAR after presentation of endophthalmitis and 2.12 ± 0.97 logMAR three months after IVB injection. Final visual acuity was found to be no light perception in four eyes. CONCLUSIONS: This large outbreak of E.coli and Citrobacter endophthalmitis occurred after intravitreal injection of counterfeit bevacizumab. Visual outcomes were very poor.
Subject(s)
Bevacizumab/adverse effects , Disease Outbreaks , Endophthalmitis/epidemiology , Eye Infections, Bacterial/epidemiology , Retinal Diseases/drug therapy , Visual Acuity , Acute Disease , Adult , Aged , Aged, 80 and over , Angiogenesis Inhibitors/administration & dosage , Angiogenesis Inhibitors/adverse effects , Bevacizumab/administration & dosage , Endophthalmitis/etiology , Eye Infections, Bacterial/etiology , Female , Follow-Up Studies , Humans , Intravitreal Injections , Iran/epidemiology , Male , Middle Aged , Retrospective StudiesABSTRACT
BACKGROUND: Contrast sensitivity is an important aspect of visual function and is even more important for ordinary daily tasks than visual acuity. Contrast sensitivity function may be deteriorated to a significant level in diabetic retinopathy, especially in diabetic macular edema. The objective of this study was to determine the impact of macular laser photocoagulation-as the standard treatment of clinically significant macular edema-on contrast sensitivity function. METHODS: In a prospective noncomparative interventional case series, 17 patients with clinically significant bilateral macular edema and no history of prior macular laser photocoagulation were enrolled. Baseline visual acuity, contrast sensitivity function, and fluorescein angiography were obtained and reassessed three months after macular laser photocoagulation. RESULTS: Clinically significant macular edema resolved in 22 (65%) of 34 eyes, three months after their first session of macular laser photocoagulation. The mean pretreatment visual acuity was 24.5/40 (0.21 logMAR) +/-10.3/40. Three months after macular photocoagulation, visual acuity remained stable in 19 eyes, decreased in 12 eyes, and increased in three eyes. The mean post-treatment visual acuity was 24/40 (0.24 logMAR) +/-10.8/40. There was a statistically significant (P = 0.02) decrease in visual acuity following laser therapy. In subgroup analysis, this decrease in visual acuity was only observed in those with unresolved clinically significant macular edema. The mean contrast sensitivity threshold increased in all spatial frequencies by three months after macular photocoagulation. The maximum rise was observed in the frequency of 6.4 cycles per degree in the mid range of frequencies, with a pretreatment mean of 9.41 dB and a post-treatment mean of 11.50 dB (P<0.05). CONCLUSION: Contrast sensitivity function improved after macular laser photocoagulation in clinically significant macular edema patients.
