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Mitochondria-related neurodegenerative diseases have been implicated in the disruption of primary cilia function. Mutation in an intrinsic mitochondrial complex I component NDUFAF2 has been identified in Leigh syndrome, a severe inherited mitochondriopathy. Mutations in ARMC9, which encodes a basal body protein, cause Joubert syndrome, a ciliopathy with defects in the brain, kidney, and eye. Here, we report a mechanistic link between mitochondria metabolism and primary cilia signaling. We discovered that loss of NDUFAF2 caused both mitochondrial and ciliary defects in vitro and in vivo and identified NDUFAF2 as a binding partner for ARMC9. We also found that NDUFAF2 was both necessary and sufficient for cilia formation and that exogenous expression of NDUFAF2 rescued the ciliary and mitochondrial defects observed in cells from patients with known ARMC9 deficiency. [NAD.sup.+] supplementation restored mitochondrial and ciliary dysfunction in ARMC9-deficient cells and zebrafish and ameliorated the ocular motility and motor deficits of a patient with ARMC9 deficiency. The present results provide a compelling mechanistic link, supported by evidence from human studies, between primary cilia and mitochondrial signaling. Importantly, our findings have significant implications for the development of therapeutic approaches targeting ciliopathies., Introduction The primary cilium is a solitary, immobile microtubule-based structure present on the apical surface of many cell types, especially in sensory organs such as the eye and nose. The [...]

PurposeThe objective of this study was to identify the prevalence of CMV ocular disease in children and to identify associated risk factors for ocular involvement.DesignRetrospective multicenter, cross-sectional study.MethodsSetting: Hospitalized patients screened for CMV viremia by PCR between 2005 and 2018 at four pediatric referral centers. Participants: Seven-hundred and ninety-three children showed CMV viremia (>135 copies/mL by polymerase chain reaction; PCR). Main Outcomes and Measures: (1) Occurrence of ophthalmologic examination. (2) Presence of CMV ocular disease, defined as retinitis, vasculitis, hemorrhage, optic nerve atrophy, or anterior uveitis in the setting of CMV viremia without other identifiable causes.ResultsA total of 296/793 (37%) underwent ophthalmologic examination following CMV viremia. A total of23/296 patients (8%) had ocular symptoms prompting evaluation while the rest had eye exams for baseline screening unrelated to CMV viremia. Of these, 13 cases (4% of those with an eye exam) with ocular disease were identified (three congenital CMV, five severe combined immunodeficiency disorder (SCID) status post-stem cell transplantation, three hematologic malignancy status post-stem cell transplantation for two of them, one Evans syndrome status post-stem cell transplantation, and one medulloblastoma status post-bone marrow transplantation). No patients with solid organ transplantation developed CMV ocular disease in our cohort.ConclusionCMV ocular disease was a rare occurrence in this cohort without an identifiable pattern across sub-groups. Excluding the three congenital CMV cases, nine out of ten patients with CMV ocular disease were status post-stem cell transplantation. We provide integrated screening guidelines based on the best available evidence for this rare condition.

Well-known risk factors for anterior segment ischemia (ASI) following strabismus surgery include ipsilateral surgery on three or more rectus muscles, older age, and vasculopathy. ASI is rarely reported in young patients following uneventful strabismus surgery on two ipsilateral rectus muscles. We report a 30-year-old transgender female on long-term estrogen therapy who underwent strabismus surgery involving recessions of both lateral rectus muscles, the right inferior rectus muscle, and the left superior rectus muscle. The left eye developed severe ASI with hypotony maculopathy that was resistant to topical medications, oral steroids, anterior chamber reformation, and intravitreal steroid injection. Following phacoemulsification with intraocular lens and capsular tension ring insertion 1 year later, intraocular pressure and hypotony maculopathy improved. [ABSTRACT FROM AUTHOR]

Purpose: Amblyopia is a leading cause of low vision and warrants timely management during childhood. We performed a literature review of the management of amblyopia and potential risk factors for amblyopia.Methods: Literature review of the management of amblyopia and risk factors for amblyopia.Results: Common amblyopia risk factors include anisometropic or high refractive error, strabismus, cataract, and ptosis. Often a conservative approach with spectacles is enough to prevent amblyopia. However, surgery may be necessary to clear the visual axis or align the eyes.Conclusion: Amblyopia risk factors should be managed early. Though amblyopia treatment is more likely to be successful at a younger age, those who are older but treatment-naïve may still respond to treatment. Promoting binocular or dichoptic experiences may be the future direction of amblyopia management. [ABSTRACT FROM AUTHOR]

Acute acquired comitant esotropia (AACE) is characterized by a sudden-onset eye misalignment with an equal angle of deviation in all fields of gaze. This form of esotropia is distinct from common forms of childhood esotropia, such as infantile esotropia and accommodative esotropia, in the rapid tempo and typically later timing of onset; further, AACE is distinct from restrictive or paretic strabismus, which usually results in an incomitant angle of deviation that varies with the direction of gaze. The underlying etiologies for AACE are broad but, in some cases, it may be associated with significant neurologic disease. Therefore, the purpose of this article is to examine and summarize the current literature on AACE to provide a framework for the evaluation and management of this form of acquired strabismus. [ABSTRACT FROM AUTHOR]

Purpose: Evaluate the risk of diabetic retinopathy progression and systemic vascular events, including death, in patients with non-proliferative diabetic retinopathy (NPDR) with obstructive sleep apnea (OSA)., Design: Retrospective cohort study., Methods: Electronic chart query using TriNetX (Cambridge, MA, USA), an electronic health records network comprising data from over 124 million patients. Patients with NPDR with and without OSA were identified. Patients were excluded if they had history of proliferative disease (PDR), diabetic macular edema (DME), or prior ocular intervention (intravitreal injection, laser, or pars plana vitrectomy). Propensity score matching was performed to control for baseline demographics and comorbidities. Rate of progressing to vision threatening complications (VTCs), need for ocular intervention, and systemic events was measured at 1, 3, and 5 years., Results: 11,931 patients in each group were analyzed after propensity score matching. There was elevated risk of PDR in the OSA cohort at 1 (RR: 1.34, P<0.001), 3 (RR: 1.31, P<0.001), and 5 years (RR: 1.28, P<0.001). There was elevated risk of DME in the OSA group at all time points: 1 (RR: 1.31, P<0.001), 3 (RR: 1.19, P<0.001), and 5 years (RR: 1.18, P<0.001). With respect to ocular interventions, there was an increased risk of intravitreal injection in OSA patients at 1 (RR: 1.59, P<0.001), 3 (RR: 1.58, P<0.001), and 5 years (RR: 1.54, P<0.001), and similar trends were noted with laser photocoagulation, but not vitrectomy. Regarding systemic events, NPDR patients with OSA had a greater risk of stroke (1 year RR: 1.80, P<0.001; 3 year RR: 1.56, P<0.001; 5 year RR: 1.49, P<0.001), myocardial infarction (1 year RR: 1.51, P<0.001; 3 year RR: 1.46, P<0.001; 5 year RR: 1.43, P<0.001), and death (1 year RR: 1.31, P<0.001; 3 year RR: 1.19, P<0.001; 5 year RR: 1.15, P<0.001)., Conclusions: There is an increased rate of DR progression to VTCs, need for ocular intervention, and systemic complications, including death, for patients with OSA. We emphasize the need for improved screening measures of patients with NPDR and potential OSA., Competing Interests: Declaration of competing interest The authors report no relevant financial disclosures or proprietary interests in the materials described in the article., (Copyright © 2024. Published by Elsevier Inc.)

Purpose: To characterize delays in diagnosis and treatment of retinal detachments (RDs) in a pediatric population., Design: Retrospective cohort study using insurance claims data., Subjects: Pediatric patients with RD who underwent repair in the outpatient setting., Methods: A retrospective analysis of commercially insured patients from a national cohort (IBM MarketScan Research Databases) aged ≤ 18 years with an incident diagnosis of RD between 2007 and 2016. Patients with preceding eye-related visits, time to diagnosis, and time to repair were calculated and compared between patients with pre-existing ocular diagnosis and those without., Main Outcome Measures: The time from diagnosis to specialist consultation, time from diagnosis to repair, time from specialist consultation to repair, number of preceding visits, and presence of previous eye-related diagnosis., Results: Our sample consisted of 826 patients, the majority (77%) of whom were diagnosed with rhegmatogenous RD. Only 40% of patients had at least 1 preceding eye-related visit, and 33% had at least 2 visits before RD diagnosis, with a median time from the last eye-related visit of 32 days (4-197 days) and median time from the second to last visit of 118 days (24-437 days). The median time from RD diagnosis to repair was 2 days (0-9 days). The 323 (37.9%) patients with pre-existing ocular diagnoses more frequently had at least 1 (44% vs. 37%; P = 0.079) or 2 preceding eye-related visits (40% vs. 29%; P = 0.002) compared with those without and also had a shorter time to RD diagnosis (median, 14.5 days vs. 44.5 days; P = 0.011) and repair (1 day vs. 3 days; P = 0.003)., Conclusions: Retinal detachment is an important cause of morbidity in children. This work highlighted how pediatric patients without previous ocular diagnoses and visits with eye care professional may have a delayed diagnosis and repair of their RD., Financial Disclosure(s): Proprietary or commercial disclosure may be found after the references., (Copyright © 2022 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.)