Axenfeld-Rieger syndrome in the pediatric population: A review.

Axenfeld-Rieger syndrome (ARS) is a rare autosomal-dominant neurocristopathy that presents with a variety of classical ocular and systemic findings. The pathophysiology of the disease involves anterior segment dysgenesis, and patients may present with ophthalmic complications early in life, including secondary glaucoma, high refractive errors, amblyopia, and permanent visual damage. There are a limited number of studies in the literature that focus primarily on pediatric patients with ARS. The purpose of this article was to review the current literature on clinical presentation, genetic associations, diagnosis, secondary complications, and treatment of ARS in pediatric patients. Evaluating the essential clinical aspects of the disease in children may allow for earlier diagnosis and treatment and prevent visual morbidity from amblyopia and secondary glaucoma that may result in permanent visual damage.

Outcomes and surgical management of persistent fetal vasculature.

OBJECTIVE: To analyse outcomes in different forms of persistent fetal vasculature (PFV). METHODS AND ANALYSIS: Retrospective cohort study at a university-based practice of children presenting with PFV between 2011 and 2020. Exclusion criteria was surgical management outside of our institution and follow-up less than 1 month. Wilcoxon and Student's t-tests were used for statistical analysis. RESULTS: Forty-six eyes of 45 patients presented with PFV at 16.7±31.3 (median 2.8) months old with 32.6±29.8 (median 22.5) months of follow-up. Types of PFV included: mild combined anterior-posterior (23 eyes, 50%), severe combined anterior-posterior (18 eyes, 39%), severe anterior (3 eyes, 7%), mild anterior (1 eye, 2%) and posterior (1 eye, 2%). Thirty-two eyes (70%) underwent PFV surgical correction; lensectomy (13 mild combined), vitrectomy (3 mild combined), sequential lensectomy then vitrectomy (3 severe combined), combined lensectomy-vitrectomy (11 severe anterior or severe combined), laser retinopexy (1 mild combined). Five eyes required additional vitrectomy surgery for retinal detachment, fold or cyclitic membrane. Nine eyes developed glaucoma, six requiring Intraocular pressure (IOP)-lowering surgery. At final follow-up, 32 eyes had at least form vision and 6 eyes were aversive to light. Eight eyes, all which were severe combined, and four that did not undergo PFV surgery, were unable to detect light due to phthisis bulbi (7) and optic nerve hypoplasia (1). CONCLUSIONS: Classification of PFV is important in determining surgical approach with severe cases often requiring both lensectomy and vitrectomy for optimal anatomic and functional outcomes.

Toxoplasma Retinochoroiditis with Chorioretinal Neovascularization in a Young Patient.

We present a pediatric case to highlight the clinical appearance and management of choroidal neovascularization in the setting of active toxoplasma retinochoroiditis (TRC). A 17-year-old female presented with 2 days of blurry vision in her left eye. Retinal examination demonstrated a pigmented chorioretinal lesion with associated subretinal fluid, vessel sheathing, and adjacent intraretinal hemorrhage. She was diagnosed with active choroidal neovascularization and successful treatment with bevacizumab revealed an underlying active toxoplasmosis lesion. Choroidal neovascularization may rarely present during an acute case of TRC. Dual therapy with anti-vascular endothelial growth factor antibody and anti-parasitic agents leads to improved visual outcomes.

Role of Optical Coherence Tomography in Identifying Retinal Biomarkers in Frontotemporal Dementia: A Review.

PURPOSE OF REVIEW: Frontotemporal dementia (FTD) is often misdiagnosed or recognized late. Clinical heterogeneity and overlap with other dementias impede accurate diagnosis. FTD biomarkers are limited, expensive, and invasive. We present a narrative review of the current literature focused on optical coherence tomography (OCT) to identify retinal biomarkers of dementia, discuss OCT findings in FTD, and explore the implications of an FTD-specific ocular biomarker for research and patient care. RECENT FINDINGS: Recent studies suggest that outer retinal thinning detected via OCT may function as a novel ocular biomarker of FTD. The degree and rate of inner retinal thinning may correlate with disease severity and progression. In Alzheimer disease (AD), OCT demonstrates thinning of the inner retina, which may differentiate this condition from FTD. We conducted a comprehensive search of the literature and reviewed published OCT findings in FTD, AD, and mild cognitive impairment, as well as reports on biomarkers of FTD and AD used in the research and patient care settings. Three of the authors (O.M., N.S.K., and K.Z.Y.) independently conducted literature searches using PubMed to identify studies published before May 1, 2020, using the following search terminology: "Alzheimer's disease," "Alzheimer's dementia," "frontotemporal dementia," "FTD," "mild cognitive impairment," "dementia biomarkers," and "neurodegeneration biomarkers." Search results were then refined using one or more of the following keywords: "optical coherence tomography," "optical coherence tomography angiography," "retinal imaging," and "retinal thinning." The selection of published works for inclusion in this narrative review was then limited to full-text articles written in English based on consensus agreement of the authors. SUMMARY: FTD diagnosis is imprecise, emphasizing the need for improved state and trait biomarkers. OCT imaging of the retina holds considerable potential for establishing effective ocular biomarkers for FTD.

The Diagnostic Conundrum of Retinitis and a Pigmented Scar.

We report a finding of a pigmented chorioretinal scar with acute retinal necrosis (ARN) caused by herpes simplex virus 2 (HSV-2) infection rather than toxoplasma, creating an initial diagnostic dilemma. A 53-year-old functionally monocular male presented with painless floaters and blurry vision in his seeing eye over a period of 4 days. An exam demonstrated anterior chamber (AC) reaction, vitritis, multifocal patches of whitening, and an occlusive retinal vasculitis. A superior pigmented chorioretinal scar with overlying contracted vitreous was noted in the periphery with no adjacent retinal whitening. The patient was treated for both ARN and toxoplasma chorioretinitis until PCR study of the vitreous and AC returned positive for HSV-2 and negative for toxoplasmosis. Management consisted of a dual therapy regimen of both oral and intravitreal antiviral agents as well as oral corticosteroids. The patient's clinical course was complicated by rhegmatogenous retinal detachment within 2 weeks after symptom onset, requiring pars plana vitrectomy with silicone oil and intraoperative intraocular incubation with foscarnet. We review emerging evidence for pigmented chorioretinal scars in ARN specifically caused by HSV-2, as well as diagnostic and treatment dilemmas in the management of ARN and ARN detachments.

Colovaginal Fistulas: Presentation, Evaluation, and Management.

OBJECTIVE: The objective of this study was to review a single institution's experience with colovaginal fistulas to provide guidance toward identification and management of this problem. METHODS: Patients with colovaginal fistulas treated by 2 senior surgeons between January 1, 1990, and June 31, 2011, were identified. A retrospective chart review was then performed to determine presenting characteristics and history, evaluation for the fistulas, and treatment outcomes. RESULTS: Nineteen patients were identified. The mean age was 63.5 years and median parity of 2. 37% complained of flatus per vagina, 89% reported stool per vagina, and 68% noted vaginal discharge. Ninety-five percent had previously undergone hysterectomy. The fistulas were identified at the left vaginal apex in 90% of the subjects. Self-reported history and/or operative findings suggested diverticulitis as the most common etiology (79% of the subjects). All subjects underwent sigmoid resection with primary anastomosis, with complete symptom resolution in 84%. CONCLUSIONS: Patients with colovaginal fistulas commonly present for primary evaluation by gynecologists. A triad of symptoms and history should trigger a high index of suspicion for colovaginal fistulas: (1) complaints of stool or flatus per vagina or foul-smelling vaginitis resistant to treatment, (2) previous hysterectomy, and (3) history of diverticulitis. The fistulas can often be visualized on speculum examination at the left vaginal apex. Rolling the patient from left to right lateral decubitus positions during a contrast enema study can improve its sensitivity. Repair of colovaginal fistulas via rectosigmoid resection and primary reanastomosis is safe and effective. We recommend multidisciplinary management involving colorectal surgery and gynecology.

Incidental bartholin gland cysts identified on pelvic magnetic resonance imaging.

OBJECTIVE: To estimate the prevalence of Bartholin gland cysts in asymptomatic women serving as control participants who underwent pelvic magnetic resonance imaging (MRI) as part of research studies. The secondary aim was to investigate potential demographic characteristics associated with Bartholin gland cysts. METHODS: Pelvic MRIs from 430 control participants enrolled in five research projects were evaluated. All images were evaluated by at least two authors. The presence, laterality, and size of Bartholin gland cysts were recorded. Demographic information for each participant was obtained at the time of enrollment in the respective parent study. RESULTS: Approximately 3% of the participants had visible Bartholin gland cysts on MRI scans. Fifty percent of the cysts were identified on the right side, 42.9% were seen on the left side, and 7.1% were bilateral. The cysts were, on average, 1.3×1.2×1.3 cm with dimensions ranging from 0.5 to 2.7 cm. There were no demographic differences between women with and without visible Bartholin gland cysts. CONCLUSION: Bartholin gland cysts occur in 3% of adult women. The cysts affect women of broad ranges of age and parity. Women with visible Bartholin gland cysts are demographically similar to women without cysts on pelvic imaging. LEVEL OF EVIDENCE: II.