Incontinentia pigmenti and the eye.

PURPOSE OF REVIEW: Incontinentia pigmenti (IP) is a rare X-linked dominant phakomatosis that predominately presents with dermatologic manifestations but can also cause central nervous system and ocular abnormalities. Awareness of the ocular complications of IP is crucial to identify ocular abnormalities early and prevent permanent vision loss. RECENT FINDINGS: There have been significant recent advances in ocular diagnostic imaging in IP. Optical coherence tomography (OCT) has helped characterize outer plexiform layer abnormalities in the macula, which can help explain central vision loss in IP patients. OCT angiography (OCT-A) also identifies macular vascular changes that induce these foveal structural abnormalities and may supplement fluorescein angiography, the current standard of care to identify peripheral retinal ischemia and neovascularization for infants with IP. Additionally, recent studies have presented excellent anatomic outcomes years after laser photocoagulation to ischemic retina. Early data indicates that antivascular endothelial growth factor therapy can induce retinal revascularization, but runs the risk of late recurrent neovascularization and requires long-term monitoring. SUMMARY: Ophthalmic imaging is evolving in the evaluation of IP and is increasingly guiding treatment modalities. A particular focus on the ocular manifestations of IP has been the ideal treatment for retinopathy in this disorder.

Outcomes of Vitreoretinal Complications Requiring Operation after Abusive Head Trauma.

Abusive head trauma (AHT) can result in retinal complications that require operative intervention. There is no review evaluating the outcomes of vitreoretinal operations in aggregate or on the timing of vitreoretinal intervention. This systematic review aims to fill this knowledge gap. A literature search between 2011 and 2021 was performed with PubMed, Web of Science, and Embase. Included articles described outcomes of vitreoretinal operations after AHT either in aggregate or as individual cases. Nine articles met criteria; the direct outcomes of operations were collected to minimize bias. Visual acuity (VA) and anatomic outcomes were compared between patients who received operations within 4 weeks of diagnosis and those who had delayed intervention. This review found that vitreoretinal surgery after AHT has excellent anatomical success rates, but there is a trend toward improved VA outcomes when performed within 4 weeks of diagnosis. This highlights the importance of urgent referral to a pediatric retina surgeon for non-clearing vitreous hemorrhage, retinal detachment, and retinal tears after AHT.

Compliance With Hydroxychloroquine Screening Guidelines at a Large Academic Medical Center.

Purpose: Long-term hydroxychloroquine use can result in irreversible maculopathy and vision loss. New screening guidelines to identify early maculopathy were issued by American Academy of Ophthalmology (AAO) in 2016; however, few studies have evaluated compliance with these updated guidelines. Methods: This cross-sectional study evaluated compliance with hydroxychloroquine maculopathy screening examinations at a large academic institution. Patients seen in the ophthalmology department who were prescribed hydroxychloroquine between 2011 and 2021 were included. This retrospective chart review included patients screened for hydroxychloroquine toxicity between 2011 and 2021. The main outcome measure was compliance with AAO screening guidelines (based on 2011 guidelines for patients screened between 2011 and 2015 and on 2016 guidelines for those screened in 2016 and later). Results: Of the 419 patients included, 239 were evaluated between 2011 and 2015 and 357 between 2016 and 2021. Only 60.7% of patients screened before 2016 met the recommended screening examination frequency, while 40.6% received adequate visual field screenings. Of patients screened after 2016, 55.3% met the recommended examination screening frequency, 46.4% received screening with macula ocular coherence tomography at the recommended interval, and 21.0% received appropriate visual field screening. One third of patients were prescribed higher than the recommended 5 mg/kg/day of hydroxychloroquine. Ten patients developed definite macular toxicity; most had concomitant risk factors for toxicity. Conclusions: Despite clear guidelines set forth by AAO in 2011 and 2016, compliance with screening was suboptimal. Hydroxychloroquine prescribers and eye care providers must collaborate to ensure patients are not overdosed and that they receive appropriate maculopathy screening.

Glaucoma Drainage Device Erosions in Patients Receiving Anti-Vascular Endothelial Growth Factor Therapy for Diabetic Retinopathy.

Purpose: To determine if intravitreal anti-vascular endothelial growth factor (anti-VEGF) injections are associated with an increased risk of glaucoma drainage device (GDD) erosions. Patients and Methods: A retrospective chart review was conducted including patients with diabetic retinopathy and had a GDD implanted at a large academic institution. The rate of GDD erosions was compared between eyes that did or did not receive intravitreal anti-VEGF injections. A subanalysis was also performed the relationship between diabetic macular edema (DME) and intravitreal steroid injections and GDD erosions. Results: A total of 677 eyes from 608 patients was included. A total of 447 eyes received at least one anti-VEGF injection; 230 eyes never received such therapy. Twenty eyes (4.5%) receiving anti-VEGF had at least one erosion event, compared to 7 eyes (3.0%) of patients not receiving anti-VEGF therapy (OR 1.49, p=0.37). Diabetic macular edema was associated with a significantly increased rate of erosion in eyes not receiving anti-VEGF (71.4% versus 31.4%, p=0.034), but not in eyes receiving anti-VEGF (30.0% versus 40.7%, p=0.34). Receiving more than one specific anti-VEGF agent, an increased frequency or total number of anti-VEGF injections, or receiving intravitreal steroids were not associated with an increased risk of erosion (p>0.05). Conclusion: In patients with diabetic retinopathy, the use of anti-VEGF does not result in an increased rate of GDD erosions or recurrent erosions. Further research is needed over a longer follow-up period to determine if longer or more frequent anti-VEGF treatment is a risk factor for recurrent erosions.

Diagnosis and management of iatrogenic trochar-induced cyclodialysis cleft with intraoperative gonioscopy and argon endolaser.

Purpose: To report a case of iatrogenic vitrectomy trochar-induced cyclodialysis cleft successfully treated with intraoperative argon endolaser. Observations: A 68-year-old Caucasian male with a history of high myopia underwent pars plana vitrectomy to clear symptomatic vitreous opacities but developed early postoperative hypotony that was recalcitrant to medical management for the first 6 postoperative months. Intraoperative gonioscopy demonstrated a cyclodialysis cleft and argon endolaser was applied to close the cleft. Conclusions and Importance: Endolaser is an effective treatment for cyclodialysis clefts and intraoperative gonioscopy allows direct visualization of the cleft in a controlled operating room setting. Placement of vitrectomy ports should be done with care in high myopes to avoid accidental piercing of the ciliary body and inducing a cyclodialysis cleft.

Management of endophthalmitis related to glaucoma drainage devices: review of the literature and our experience.

Glaucoma drainage device (GDD)-related endophthalmitis is a devastating complication of device implantation. There are no guidelines in the literature to assist clinicians in deciding if the GDD should be explanted or if patients require pars plana vitrectomy (PPV). This study compares the outcomes of GDD explantation with device retention and also independently compares the outcomes of PPV versus intravitreal antibiotics alone in patients with GDD-related endophthalmitis. A literature search for studies discussing GDD-related endophthalmitis from 2005 to 2019 was performed; 30 articles were included. The visual acuity/anatomical outcomes were compared between GDD explantation and retention, and between patients that received a PPV and those that did not. These outcomes were combined with a medical records review of 13 patients with GDD-related endophthalmitis from an academic institution. A total of 88 eyes were included. 70.5% underwent GDD explantation, while 37.8% received a PPV. GDD explantation was associated with a lower rate of evisceration/enucleation when compared to GDD retention (4.8% versus 19.2%, OR 0.22, 95% CI 0.05-1.01, p = 0.05), but visual acuity outcomes were similar. No eyes that received an immediate vitrectomy became phthisic or required evisceration/enucleation, compared an evisceration/enucleation rate of 15.2% in eyes treated solely with intravitreal antibiotics (OR 1.18, 95% CI 1.04-1.33, p = 0.04). Explantation of the GDD and immediate vitrectomy are both associated with better anatomical outcomes in GDD-related endophthalmitis. Further research is needed to provide more definitive guidelines in the ideal management of these patients.

Like Father, Like Daughter-inherited cutis aplasia occurring in a family with Marfan syndrome: a case report.

We present the case of a newborn with co-occurrence of Marfan syndrome and aplasia cutis congenita (ACC) and a family history significant for Marfan syndrome and ACC in the father. This case details a previously unreported mutation in Marfan syndrome and describes a novel coinheritance of Marfan syndrome and ACC.

Timing and Outcomes of Vitreoretinal Surgery after Traumatic Retinal Detachment.

Traumatic retinal detachments are a significant cause of morbidity. There are currently no evidence-based guidelines on the appropriate time to perform vitreoretinal surgery to repair a traumatic retinal detachment. Early intervention, within seven days of the inciting trauma, may decrease proliferative vitreoretinopathy and postoperative endophthalmitis. Later intervention may yield a reduced risk of inflammation and hemorrhage, particularly in cases of concomitant open globe injuries. This article reviews the literature on the management of retinal detachments associated with ocular trauma from the years 2006 to 2016. Particular focus was placed on the timing of surgery, concomitant open globe injury, anatomical success rates, visual acuity, and complication rates. In this review, anatomical success was not significantly related to timing of intervention when compared between early and delayed intervention in eyes with and without concomitant open globe injuries. Visual acuities postoperatively varied widely despite timing of intervention due to the large variation in mechanism and extent of ocular injuries. Proliferative vitreoretinopathy was a common complication. Preliminary data indicate that endophthalmitis rates may be lower when early vitreoretinal surgery is performed. There is insufficient data to conclude whether early or delayed surgery leads to improved outcomes, highlighting the need for further research in this domain.