Choroideremia presenting as vision loss secondary to choroidal neovascularization.

BACKGROUND: Choroidal neovascularization (CNV) is a rare complication of choroideremia that occurs secondary to relative atrophy of the retinal pigment epithelium and eventual rupture of Bruch's membrane. The ideal management of CNV in choroideremia is unclear. MATERIALS AND METHODS: Case report. OBSERVATIONS: A 14-year-old male with no known ocular history presented to the eye emergency department complaining of a central scotoma in the right eye for 4 days. He had no past medical history and family history was unremarkable for known ocular disease. Visual acuity was 20/70 in the right eye and 20/30 in the left eye. Posterior segment exam revealed chorioretinal atrophy extending from the outer macula to the midperiphery in both eyes. There was CNV with associated subretinal hemorrhage in the right eye. Optical coherence tomography demonstrated the presence of CNV with subretinal fluid in the right eye and parafoveal outer retinal atrophy in both eyes. Genetic testing revealed a hemizygous exon 2 deletion on the CHM gene, pathogenic for choroideremia. The patient received a total of 3 injections 4 weeks apart followed by 1 injection 6 weeks later with resolution of the subretinal hemorrhage and reduction in CNV size with improvement in visual acuity to 20/20 at last follow-up exam. CONCLUSIONS AND IMPORTANCE: Choroidal neovascularization is a rare cause of central vision loss in patients with choroideremia. In this report, we demonstrate a good functional and anatomic response to intravitreal bevacizumab in a 14-year-old patient with undiagnosed choroideremia who presented with CNV-induced central vision loss.

Patients With Dragged Optic Disc Vessels and Retinal Folds: Clinical Features, Multimodal Imaging, and Histopathology.

BACKGROUND AND OBJECTIVE: To describe the multimodal imaging and histopathological features of patients with dragged optic disc vessels (DODV). PATIENTS AND METHODS: This is a retrospective, observational analysis using multimodal imaging of eyes with DODV in patients with retinal vascular diseases including familial exudative vitreoretinopathy, inflammatory disease, and others. In addition, two additional enucleated eyes with DODV underwent histopathological analysis. RESULTS: Of the 13 patients, eight were girls and five were boys. Mean age was 5 years (ranging from 4 months to 10 years old). Of the 15 eyes, 12 (80%) demonstrated temporal dragging and three (20%) had nasal dragging. Retinal vascular abnormalities were present in 11 of the fellow eyes. Multimodal imaging demonstrated features of DODV including direction of traction, outer retinal thickening, increased flow, and other features. Only two (13.3%) eyes required surgical intervention. Mean follow-up was 14 (range 3 to 30 months) months. At last follow-up all eyes remained stable. Last visual acuity ranged from 20/100 to counting fingers. As well, two enucleated globes of adults with retinopathy of prematurity underwent histopathologic evaluation, showing optic nerve fibers that extended from the optic nerve into the DODV. CONCLUSIONS: DODV is a sign of various late-stage retinal vascular diseases, associated with poor visual function. Multimodal imaging and histopathology can assist in understanding the disease pathology. [Ophthalmic Surg Lasers Imaging Retina 2023;54:634-642.].

Familial exudative vitreoretinopathy (FEVR) in a child with novel microarray-defined deletion of 11q14 previously diagnosed as retinopathy of prematurity (ROP).

BACKGROUND: Familial exudative vitreoretinopathy (FEVR) is a rare inherited disease characterized by abnormal retinal angiogenesis that leads to incomplete vascularization of the peripheral retina and ischemia. The disease demonstrates complex genetics and can be inherited in an autosomal recessive, autosomal dominant, or X-linked recessive fashion. All presently identified pathogenic genetic variants account for about 50% of all FEVR cases worldwide. Genetic testing can confirm the diagnosis. MATERIALS AND METHODS: Case report. CASE: A 7-year-old female who was born prematurely at 33 weeks gestation and was thought to have progression of bilateral retinopathy of prematurity (ROP) was referred to a pediatric-retina specialist for management. Upon initial examination under anesthesia with multimodal imaging, the diagnosis of FEVR was suspected. Genetic testing identified a FZD4 variant involving a novel complex interchromosomal rearrangement involving chromosomes 2 and 11 associated with microarray-defined deletion of 11q14. The patient was conceived via IVF and has a fraternal twin without FEVR. This is the first report of familial exudative vitreoretinopathy associated with this combination of genetic findings. CONCLUSION: Autosomal dominant FEVR involves abnormalities in several genes, including FZD4 at the chromosome 11q. We recommend that patients with microarray-defined deletions of 11q have careful review of the allelic deletions in Chromosome 11 to determine if FZD4 is included because a loss of function variant of a single copy of FZD4 is sufficient to cause the FEVR phenotype. It is essential to differentiate FEVR from other pediatric retinal diseases in children, including ROP, persistent fetal vasculature, and Coats disease.

Outcomes in Patients with Suprachoroidal Hemorrhage After Anterior Segment Surgery.

Objective: The purpose of the current study is to report outcomes of suprachoroidal hemorrhage (SCH) after anterior segment surgery at a single institution, and to identify clinical features associated with visual prognosis. Methods and Analysis: Retrospective consecutive case series of patients with SCH occurring after anterior segment surgery. Results: The study includes 112 eyes of 112 patients between 2014 and 2020. There were 76 cases of non-appositional SCH versus 36 cases of appositional SCH. The mean presenting visual acuity for patients with non-appositional versus appositional SCH was 2.03 logMAR (SD 0.78) versus 2.39 logMAR (SD 0.43), respectively. Visual acuity outcomes generally remained poor at last follow-up: 64 (58%) patients had a visual acuity (VA) of ≤ 20/200, including 19 (17%) with light perception (LP), and 11 (10%) with no light perception (NLP). Regarding management of non-appositional versus appositional SCH, observation was selected in 46 (61%) vs 12 (33%), delayed drainage in 14 (18%) vs 15 (42%), delayed pars plana vitrectomy in 16 (21%) vs 13 (36%), and VA at last follow-up was 1.2 versus 1.86 logMAR (p=0.002). In patients that were observed, both appositional SCH (p=0.01) and duration of apposition (p=0.04) were correlated with worse outcome. Conclusion: Appositional SCH was associated with poorer visual outcomes compared to non-appositional SCH. Observation remains a reasonable management strategy for non-appositional SCH.

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.

Basal Cell Carcinoma and Eccrine Porocarcinoma of the Eyelid.

An 81-year-old woman presented with a progressively enlarging indurated, firm lesion encompassing one-third of the left upper eyelid. Four years prior, a similar lesion at that same site had been excised and diagnosed as a basal cell carcinoma. The patient underwent a full-thickness excision of the lesion with frozen section, cryotherapy, and reconstruction. A free tarsal graft and hard palate composite graft was used to reconstruct the posterior lamella. A Mustarde myocutaneous rotational flap was used to reconstruct the anterior lamella. Histopathology illustrated nests of pleomorphic basophilic cells with varying mitotic activity and immunohistochemical staining consistent with eccrine porocarcinoma. This case highlights similarities in the presentation and appearance of basal cell carcinoma and periorbital eccrine porocarcinoma. It is possible that there was de novo development of the 2 tumors on the eyelid or recurrence of a misdiagnosed eccrine porocarcinoma. Eccrine porocarcinomas are rare malignant sweat gland tumors associated with a risk of recurrence after excision and metastasis.

Ocular trauma secondary to exercise resistance bands during the COVID-19 pandemic.

OBJECTIVE: To characterize injuries caused by exercise resistance bands. METHOD: Single-site retrospective case series of patients presenting to the Bascom Palmer Eye Institute emergency room with ocular injuries secondary to exercise resistance bands from March through September 2020. RESULTS: Eleven patients (9 males, 2 females, 14 eyes) were reviewed. Eight patients had a unilateral injury (3 right eyes, 5 left eyes) while 3 had bilateral injuries. Iritis was the most common presentation, seen in all 11 patients, followed by hyphema (9 patients, 82%), and vitreous hemorrhage (4 patients, 36%). Among affected eyes, the mean presenting visual acuity was approximately 20/100, improving to 20/40 on the last follow up (p = 0.06). However, 4 eyes (33%) had vision ≤20/60 at last follow up. CONCLUSIONS: Exercise resistance bands can cause a wide spectrum of ocular injuries, some leading to long-term vision loss. As such, we recommend that patients strongly consider using eye protection goggles or glasses while using resistance bands for exercise.

Comparison Between Graders in Detection of Diabetic Neovascularization With Swept Source Optical Coherence Tomography Angiography and Fluorescein Angiography.

PURPOSE: We compared the ability of ophthalmologists to identify neovascularization (NV) in patients with proliferative diabetic retinopathy using swept-source optical coherence tomography angiography (SS-OCTA) and fluorescein angiography (FA). DESIGN: Retrospective study comparing diagnostic instruments. METHODS: Eyes with proliferative diabetic retinopathy or severe nonproliferative diabetic retinopathy and a high suspicion of NV based on clinical examination were imaged using SS-OCTA and FA at the same visit. Two separate grading sets consisting of scrambled, anonymized SS-OCTA and FA images were created. The ground truth for presence of NV was established by consensus of 2 graders with OCTA experience who did not participate in the subsequent assessment of NV in this study. The 2 anonymized image sets were graded for presence or absence of NV by 12 other graders that included 2 residents, 6 vitreoretinal fellows, and 4 vitreoretinal attending physicians. The percentage of correct grading of NV using SS-OCTA and FA was assessed for each grader and across grader training levels. RESULTS: Forty-seven eyes from 24 patients were included in this study. Overall, the mean percentage of correct NV grading was 87.8% using SS-OCTA with B-scans and 86.2% using FA (P = .92). Assessing each grader individually, there was no statistically significant asymmetry in correct grading using SS-OCTA and FA. CONCLUSIONS: Ophthalmologists across training levels were able to identify diabetic NV with equal accuracy using SS-OCTA and FA. Based on these results, SS-OCTA may be an appropriate standalone modality for diagnosing diabetic NV.

Emergent Ophthalmic Surgical Care at a Tertiary Referral Center During the COVID-19 Pandemic.

PURPOSE: This study characterized the delivery of emergent ophthalmic surgical care during April 2020 of the coronarvirus disease-19 (COVID-19) pandemic compared with the same interval the previous year. DESIGN: Retrospective observational before-and-after study. METHODS: This study reviewed and characterized each emergent and/or urgent procedure performed during April 2020 and April 2019 at a single tertiary ophthalmology referral center. Information collected included the details of patient presentation, diagnosis, surgical procedure, and preoperative COVID-19 testing. RESULTS: In total, 117 surgical procedures were performed on 114 patients during the month of April 2020 compared with 1,107 performed in April 2019 (P < .0001). Retinal detachment repair was the most common procedure (n = 37; 31.6%) in April 2020, whereas elective cataract surgery (n = 481; 47.3%) was the most common procedure in April 2019. The mean age of patients was 50.0 years in April 2020 compared with 59.0 years (P < .0001) the previous year. During April 2020, the mean age of surgeons performing procedures was 42.3 years compared with 48.4 years (P < .0001) during April 2019. In April 2020, all but 5 patients (96%) had reverse transcriptase polymerase chain reaction based COVID-19 testing before their procedure. One patient (0.88%) had a positive COVID-19 test. CONCLUSIONS: The COVID-19 pandemic decreased our institution's surgical volume in April 2020 to approximately 10% of the usual volume. The pandemic changed the type of cases performed and led to a statistically significant decrease in both the age of our surgeons and patients relative to the same interval in the previous year. Broad preoperative screening led to 1 positive COVID-19 test in an asymptomatic patient.

Peripheral combined hamartoma of the retina and retinal pigment epithelium with remote peripapillary choroidal neovascular membrane.

PURPOSE: To describe the first reported case of combined hamartoma of the retina and retinal pigment epithelium (CHRRPE) associated with a remote choroidal neovascular membrane (CNVM). OBSERVATIONS: A 19-month-old girl with a normal prenatal and infantile history presented with esotropia of the left eye. Fundus examination demonstrated a large, elevated, charcoal-colored lesion in the nasal equatorial retina. There was dragging of the nasal retinal vessels and a retinal fold, presumed to have resulted from nasal traction from the lesion. There was also subretinal hemorrhage in the peripapillary macula. Multimodal imaging demonstrated a peripapillary choroidal neovascular membrane (CNVM) underlying the retinal fold. There was no leakage within the tumor or secondary retinal neovascularization. Examination of the fellow eye was unremarkable. The patient was diagnosed with peripheral CHRRPE with associated peripapillary CNVM. She was treated with serial intravitreal bevacizumab to the affected eye which resulted in a reduction in leakage from the CNVM and resolution of the subretinal hemorrhage. The CHRRPE remained stable on follow-up. CONCLUSIONS: Peripheral CHRRPE can rarely be associated with a remote CNVM.

Social media in ophthalmology: An analysis of use in the professional sphere.

To characterize how ophthalmologists are using social media in their practice. A survey regarding ophthalmologists' personal and professional use of social media was distributed online through a university alumni listserv. Data collection occurred over 4 weeks from January to February 2020. In total, 808 ophthalmologists opened the survey email, and 160 responded (19.8%). Of 160 respondents, 115 (71.9%) participated in social media for personal use. Professional use of social media was noted by 63 (39.4%) respondents. Age >40 years old correlated with less personal (X2 = 5.06, p = 0.025) but not professional use (p = 0.065). Private practice was associated with more use of social media professionally compared to those in an academic or Veteran's Affairs hospital (X2 = 6.58, p = 0.037). A majority of respondents (58.7%) were neutral regarding the effect of social media on their practice. The present survey showed that nearly 40% of respondents are involved in social media in a professional context. Private practice correlated with increased use of social media professionally, but providers were most commonly neutral regarding the impact of social media on their practice. This finding suggests further avenues of research including how providers using social media professionally are defining and assessing successful use.

Chronic, Recurrent Bacterial Endophthalmitis Caused by Achromobacter xylosoxidans: Clinical Features and Management.

A 79-year-old man presented to a tertiary referral center from the Dominican Republic with an opaque corneal graft and a diagnosis of chronic, recurrent culture-positive Achromobacter xylosoxidans endophthalmitis of the left eye. The patient had a history of penetrating keratoplasty for Fuchs' dystrophy and had undergone multiple intraocular surgeries including pars plana vitrectomy and anterior chamber wash out for the diagnosis and management of chronic endophthalmitis. After being referred, the patient underwent a third PKP, removal of his intraocular lens (IOL), capsulectomy, and injection of intravitreal antibiotics. All surgical specimens demonstrated the growth of A. xylosoxidans. Five months after surgery, the graft remained clear without evidence of infection and best-corrected visual acuity was 20/350.

Asymmetric retinopathy of prematurity in presumed fungal endophthalmitis.

PURPOSE: To report a case of asymmetric retinopathy of prematurity (ROP) in a neonate with endophthalmitis. OBSERVATIONS: A 25-week old female was born by caesarean section due to preeclampsia. The patient required supplemental oxygen after birth. The neonatal period was complicated by sepsis secondary to necrotizing enterocolitis with intestinal perforation. The patient subsequently developed endophthalmitis in the right eye. A fungal ball was seen overlying the termination of a persistent hyaloid artery. The patient also had ROP, identified at 31 weeks postconceptional age, which progressed asymmetrically and demonstrated greater severity in the eye affected by endophthalmitis. The endophthalmitis resolved with intravitreal antifungal treatment and systemic therapy. The right eye was also treated with intravitreal bevacizumab, demonstrating regression of ROP severity on follow up. CONCLUSIONS AND IMPORTANCE: The present case describes the first reported case of asymmetric ROP associated with endophthalmitis. The more severe ROP occurred in the eye with endophthalmitis suggesting that, outside of systemic factors, the local ocular inflammatory environment is important in determining the progression of ROP. Additionally, the fungal ball present in the eye affected by endophthalmitis was seen at the termination of the hyaloid artery, suggesting the hyaloid artery as the route of entry of the fungus into the vitreous.

Differential L1 regulation in pluripotent stem cells of humans and apes.

Identifying cellular and molecular differences between human and non-human primates (NHPs) is essential to the basic understanding of the evolution and diversity of our own species. Until now, preserved tissues have been the main source for most comparative studies between humans, chimpanzees (Pan troglodytes) and bonobos (Pan paniscus). However, these tissue samples do not fairly represent the distinctive traits of live cell behaviour and are not amenable to genetic manipulation. We propose that induced pluripotent stem (iPS) cells could be a unique biological resource to determine relevant phenotypical differences between human and NHPs, and that those differences could have potential adaptation and speciation value. Here we describe the generation and initial characterization of iPS cells from chimpanzees and bonobos as new tools to explore factors that may have contributed to great ape evolution. Comparative gene expression analysis of human and NHP iPS cells revealed differences in the regulation of long interspersed element-1 (L1, also known as LINE-1) transposons. A force of change in mammalian evolution, L1 elements are retrotransposons that have remained active during primate evolution. Decreased levels of L1-restricting factors APOBEC3B (also known as A3B) and PIWIL2 (ref. 7) in NHP iPS cells correlated with increased L1 mobility and endogenous L1 messenger RNA levels. Moreover, results from the manipulation of A3B and PIWIL2 levels in iPS cells supported a causal inverse relationship between levels of these proteins and L1 retrotransposition. Finally, we found increased copy numbers of species-specific L1 elements in the genome of chimpanzees compared to humans, supporting the idea that increased L1 mobility in NHPs is not limited to iPS cells in culture and may have also occurred in the germ line or embryonic cells developmentally upstream to germline specification during primate evolution. We propose that differences in L1 mobility may have differentially shaped the genomes of humans and NHPs and could have continuing adaptive significance.