Laser treatment of macular retinal folds in late postoperative period after retinal detachment repair

Macular retinal folds are a rare yet grave complication of surgical rhegmatogenous retinal detachment repair. Clinical symptoms vary depending on the location and severity of folding. Fold located in the periphery of the ocular fundus can be asymptomatic, but macular retinal folds cause diminished visual acuity and metamorphopsia. Currently, the most effective treatment for retinal folds is repeat surgery. Its serious disadvantage is the risk of complications in the early postoperative period, including hemophthalmia, inflammation, secondary glaucoma, cataracts, RRD recurrence, macular tears, retinal vascular occlusion, etc. The clinical case described below demonstrates the potential of combination laser therapy for the treatment of macular retinal folds based on the use of modern diagnostic and therapeutic methods.

Severe protein C deficiency in a newborn caused by a homozygous pathogenic variant in the PROC gene: a case report

Background Severe protein C deficiency is a rare and inherited cause of thrombophilia in neonates. Protein C acts as an anticoagulant, and its deficiency results in vascular thrombosis. Herein, we report a case of protein C deficiency with a homozygous pathogenic variant in a term neonate, with good outcomes after proper treatment. Case presentation A four-day-old male newborn was transferred to the Seoul National University Hospital on account of dark red to black skin lesions. He was born full-term with an average birth weight without perinatal problems. There were no abnormal findings in the prenatal tests, including intrauterine sonography. The first skin lesion was observed on his right toes and rapidly progressed to proximal areas, such as the lower legs, left arm, and buttock. Under the impression of thromboembolism or vasculitis, we performed a coagulopathy workup, which revealed a high D-dimer level of 23.05 μg/ml. A skin biopsy showed fibrin clots in most capillaries, and his protein C activity level was below 10%, from which we diagnosed protein C deficiency. On postnatal day 6, he experienced an apnea event with desaturation and an abnormal right pupillary light reflex. Brain computed tomography showed multifocal patchy intracranial hemorrhage and intraventricular hemorrhage with an old ischemic lesion. Ophthalmic examination revealed bilateral retinal traction detachments with retinal folds. Protein C concentrate replacement therapy was added to previous treatments including steroids, prostaglandin E1, and anticoagulation. After replacement therapy, there were no new skin lesions, and the previous lesions recovered with scarring. Although there were no new brain hemorrhagic infarctions, there was ongoing ischemic tissue loss, which required further rehabilitation. Ophthalmic surgical interventions were performed to treat the bilateral retinal traction detachments with retinal folds. Molecular analysis revealed a homozygous pathogenic variant in the PROC gene. Conclusion Severe protein C deficiency can manifest as a fatal coagulopathy in any organ. Early diagnosis and proper treatment, including protein C concentrate replacement, may improve outcomes without serious sequelae.

Vogt-Koyanagi-Harada Disease Following COVID-19 Infection

A 29-year-old female presented to the emergency clinic with gradual visual disturbance in both eyes for 15 days duration, accompanied by bilateral tinnitus, and ocular pain that increased with ocular movements. One month prior to presentation, the patient had tested positive for severe acute respiratory syndrome coronavirus-2 but without complications. Visual acuity was 20/100 in the right eye and 20/300 in the left eye. Funduscopy demonstrated optic nerve swelling, radial nerve fiber striation disruption, and bilateral retinal folds. Optical coherence tomography showed serous (bacillary) retinal detachment and multifocal areas of hyper-reflective changes in the inner and outer plexiform layer with inner nuclear layer thickening and disruption of the interdigitation zone bilaterally. We present a case of incomplete Vogt-Koyanagi-Harada disease following COVID-19 infection.

Whole-Gene Deletions of FZD4 Cause Familial Exudative Vitreoretinopathy

Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by abnormalities in the retinal vasculature. The FZD4 gene is associated with FEVR, but the prevalence and impact of FZD4 copy number variation (CNV) on FEVR patients are unknown. The aim of this study was to better understand the genetic features and clinical manifestations of patients with FZD4 CNVs. A total of 651 FEVR families were recruited. Families negative for mutations in FEVR-associated genes were selected for CNV analysis using SeqCNV. Semiquantitative multiplex polymerase chain reaction and multiplex ligation-dependent probe amplification were conducted to verify the CNVs. Four probands were found to carry whole-gene deletions of FZD4, accounting for 5% (4/80) of probands with FZD4 mutations and 0.6% (4/651) of all FEVR probands. The four probands exhibited similar phenotypes of unilateral retinal folds. FEVR in probands with CNVs was not more severe than in probands with FZD4 missense mutations (p = 1.000). Although this is the first report of FZD4 CNVs and the associated phenotypes, the interpretation of FZD4 CNVs should be emphasized when analyzing the next-generation sequencing data of FEVR patients because of their high prevalence.

A novel technique to avoid intraoperative giant tear slippage: the bimanual double aspiration technique

Background The aim of this paper is to present a novel bimanual double aspiration technique to avoid intraoperative giant tear slippage. The major problem of giant retinal tears (GRT) surgery is the mobility of the posterior flap (slippage), which has been classically solved by the use of intraoperative perfluorocarbon liquid (PFCL). However, avoiding slippage of the posterior flap can be a serious technical challenge when the PFCL is removed, especially when a GRT circumference is > 180°. Methods Conventional three-port 23-gauge pars plana vitrectomy (PPV) plus chandelier was performed in three patients with giant retinal tears (GRT), using the “bimanual double aspiration technique” with non-contact wide field viewing systems. All surgeries were performed by the same surgeon. Results None of the three cases presented with a retinal slippage after the bimanual aspiration technique. Discussion GRT are full thickness retinal tears that extend circumferentially more than 90° of the retina. Management of GRT is a challenge for the vitreoretinal surgeons because the higher risk of proliferative vitreoretinopathy (PVR), re-detachment and increased risk of retinal slippage; this last can occur intraoperative or postoperative. Retinal slippage is not uncommon but far under-reported and can lead to various complications such as hypotony, retinal folds, and may exacerbate PVR formation. We performed bimanual double aspiration technique to avoid intraoperative giant tear slippage. We believe that this maneuver may avoid slippage by drying the posterior edge of the GRT. There were no complications related with the technique, and no additional equipment was needed. Conclusion In summary, “bimanual double aspiration technique”, is a simple, effective, safe and economic maneuver that could be a good option to avoid intraoperative slippage in giant retinal detachment surgery, thus achieving the stabilization of the posterior retinal flap.

Morphological alternation and influence of aqueous flare in idiopathic epiretinal membrane

Background Idiopathic epiretinal membrane (iERM) is a common retinal disease in the elderly population. The exact pathogenesis of iERM is unknown. The present study aimed to evaluate the relationship between aqueous flare and morphology of iERM using swept-source optical coherence tomography (OCT). Methods A consecutive series of 36 eyes of 33 patients with iERM and 109 control eyes of 109 patients were retrospectively examined. Aqueous flare measurements and OCT images were obtained on the same day. The average total retinal, inner retinal, outer retinal, and choroidal thicknesses were calculated using the thickness map mode with an Early Treatment Diabetic Retinopathy Study nine-zone grid that was divided into three zones. The maximum depth of the retinal folds in iERMs was manually measured. The correlation among flare value, maximum depth of folds, and retinal and choroidal thicknesses was evaluated. The morphological changes between the control eyes and the eyes with iERM in different stages were examined. Results The result demonstrated a significant positive correlation between the aqueous flare value and total and inner retinal thicknesses in the early stage of iERM. There was a significant positive correlation between the maximum depth of folds and total and inner retinal thicknesses in the early stage of iERM, and the maximum depth of folds significantly increased in the advanced stage. The total and inner retinal thicknesses and proportion of inner retinal thickness significantly increased as the stage of iERM progressed. Conclusions The aqueous flare value was associated with retinal thickness in the early stage of iERM, which supports the idea that inflammation or breakdown of blood–ocular barrier is involved in the process of iERM formation. The maximum retinal folds increased as the stage of iERM progressed and retinal thickness increased, which indicates that the tangential force increases as the iERM stage progresses.