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Purpose: To report 2 cases of enlarged foveal avascular zone (FAZ) on optical coherence angiography (OCTA) imaging in pediatric patients with cutis marmorata telangiectatica congenita (CMTC). Observations: A 10-week-old female and a 3-year-old male diagnosed with CMTC presented for retinal examination. Both had peripheral avascularity on fluorescein angiography (FA) and enlargement of the FAZ on OCTA in both eyes. Conclusions and Importance: Pediatric patients with CMTC should undergo ocular evaluation with not only FA, but also OCTA to more robustly evaluate the affected retina in this rare disease.
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Purpose: To report a case of oculo-facio-cardio-dental (OFCD) syndrome secondary to a novel BCOR variant in a pediatric patient with congenital cataracts, microphthalmia, persistent fetal vasculature (PFV), focal chorioretinal hyperpigmentation, peripheral retinal avascularity, and foveal photoreceptor atrophy. Observations: A 3-month-old female patient was referred for bilateral congenital cataracts with microphthalmia. Her past medical history was significant for syndactyly of the toes, left bifid rib, atrial septal defect, patent ductus arteriosus, mitral regurgitation, pulmonary hypertension, anemia of prematurity, vesicoureteral reflux, and duodenal atresia. Examination under anesthesia revealed persistent fetal vasculature (PFV) with peripheral avascularity, foveal photoreceptor atrophy, and focal chorioretinal hyperpigmentation. A bilateral lensectomy with anterior vitrectomy and posterior capsulotomy were performed. Genetic testing identified a novel heterozygous pathogenic variant in the BCOR gene (c.1612C > T (p.Gln538Ter)), confirming a diagnosis of OFCD syndrome. Conclusions and importance: This case describes novel posterior segment findings in a patient with OFCD. A detailed examination of both anterior and posterior segments in combination with multimodal imaging should be performed in patients suspected of having OFCD, as this may be critical in determining visual potential and appropriate surgical management.
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This case report describes a diagnosis of combined hamartoma of the retina and retinal pigment epithelium (RPE) with filamentous RPE hyperplasia in a female child with a history of amblyopia, myopia, and exotropia of the affected eye.
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Hamartoma , Hiperplasia , Enfermedades de la Retina , Epitelio Pigmentado de la Retina , Tomografía de Coherencia Óptica , Humanos , Angiografía con Fluoresceína/métodos , Hamartoma/diagnóstico , Enfermedades de la Retina/diagnóstico , Epitelio Pigmentado de la Retina/patologíaRESUMEN
Purpose: To report 2 cases of atypically located, non-nasal colobomas in the pediatric population. Observations: A 3-week-old female neonate with no known past ocular or medical history was diagnosed with temporal iris and chorioretinal coloboma with tractional membranes upon examination under anesthesia and imaging. A 9-year-old female with a history of bilateral sensorineural hearing loss and left mild hydronephrosis presented with a temporal chorioretinal coloboma associated with retinal detachment. Conclusions and importance: Very few cases of atypically located, non-nasal pediatric colobomas have been reported, and they lack a clear cause or mechanism of formation. Continued documentation of their occurrence and research into their formation at a molecular and embryological level are warranted to better understand their pathogenesis.
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PURPOSE: To assess the safety of injecting human embryonic stem cell retinal pigment epithelial cell dose to treat Stargardt disease. METHODS: In this prospective, Phase I clinical trial, human embryonic stem cell retinal pigment epithelial cells in suspension were injected into the subretinal space in eyes with the worse best-corrected visual acuity (BCVA). After vitrectomy/posterior hyaloid removal, a partial retinal detachment was created and the human embryonic stem cell retinal pigment epithelial cells were administered. Phacoemulsification with intraocular lens implantation was performed in eyes with lens opacity. All procedures were optical coherence tomography-guided. The 12-month follow-up included retinal imaging, optical coherence tomography, visual field/electrophysiologic testing, and systemic evaluation. The main outcome was the absence of ocular/systemic inflammation or rejection, tumor formation, or toxicity during follow-up. RESULTS: The mean baseline BCVAs in the phacoemulsification and no phacoemulsification groups were similar (1.950 ± 0.446 and 1.575 ± 0.303, respectively). One year postoperatively, treated eyes showed a nonsignificant increase in BCVA. No adverse effects occurred during follow-up. Intraoperative optical coherence tomography was important for guiding all procedures. CONCLUSION: This surgical procedure was feasible and safe without cellular migration, rejection, inflammation, or development of ocular or systemic tumors during follow-up.
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Desprendimiento de Retina , Epitelio Pigmentado de la Retina , Humanos , Epitelio Pigmentado de la Retina/patología , Enfermedad de Stargardt , Estudios Prospectivos , Desprendimiento de Retina/patología , Células Madre , Inflamación , Pigmentos Retinianos , Tomografía de Coherencia ÓpticaRESUMEN
CITATION: This review's objective was to synthesize the literature on the repercussions of obstructive sleep apnea (OSA) in the retinal vascular system. Two independent investigators conducted a search using the MEDLINE/PubMed database using the following terms: sleep apnea syndrome, obstructive sleep apnea, retina, vascular tortuosity, central serous chorioretinopathy, diabetes mellitus, and subfoveal choroidal thickness. Patients with OSA present increased vascular tortuosity compared with patients without OSA, decreased parafoveal and peripapillary vessel density, and increased retinal vein occlusion incidence. In central serous chorioretinopathy patients and patients who are poor responders to intravitreal anti-VEGF (-vascular endothelial growth factor) treatment for macular edema, OSA is more frequent. Macular choroidal thickness alterations are controversial, and OSA may worsen diabetic maculopathy, thus being a risk factor for diabetic retinopathy, proliferative diabetic retinopathy, and macular edema. OSA is a prevalent syndrome with many systemic vascular changes. The retina and choroid are the most affected ocular structures, with primarily vascular changes. New noninvasive technologies such as optical coherence tomography and optical coherence tomography angiography could help to better understand retinal structures and help clarify the ophthalmological repercussions of OSA. CITATION: Nakayama LF, Tempaku PF, Bergamo VC, et al. Obstructive sleep apnea and the retina: a review. J Clin Sleep Med. 2021;17(9):1947-1952.
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Retinopatía Diabética , Vasos Retinianos/patología , Apnea Obstructiva del Sueño , Retinopatía Diabética/epidemiología , Humanos , Retina/patología , Apnea Obstructiva del Sueño/complicaciones , Apnea Obstructiva del Sueño/epidemiología , Tomografía de Coherencia Óptica , Factor A de Crecimiento Endotelial VascularRESUMEN
IMPORTANCE: Congenital viral infections leading to ocular abnormalities are frequent and devastating. As ophthalmological manifestations of COVID-19 in newborns are still unknown, it is important to clarify if SARS-CoV-2 could be associated with ocular abnormalities. OBJECTIVE: To determine whether exposure to SARS-CoV-2 is associated with outcomes in the eyes of newborns. DESIGN, SETTING, AND PARTICIPANTS: This case series enrolled newborns from April to November 2020 from 3 different maternity hospitals in São Paulo, Brazil. The diagnosis of COVID-19 in mothers and newborns was based on real-time reverse transcriptase-polymerase chain reaction assays with material obtained from oronasopharyngeal swab sample; positive IGM serology was also considered as a diagnostic test for mothers. Newborns were excluded if they had any evidence of another congenital infection. All infants underwent external ocular examination and binocular indirect ophthalmoscopy. EXPOSURES: Serology test for COVID-19 and detection of SARS-CoV-2 from oronasopharyngeal specimen using a real-time reverse transcriptase-polymerase chain reaction assay on both mothers and newborns. MAIN OUTCOMES AND MEASURES: Screening for ophthalmologic manifestation in newborns after maternal COVID-19 infection. RESULTS: A total of 165 newborns (age range at examination, 1 to 18 days) were evaluated. Of these, 123 (74.5%) were born at full term, and 42 (25.4%) were born preterm. Maternal gestational age at the time of COVID-19-positive test varied from first to 40th gestational weeks. Six newborns (3.6%) had positive polymerase chain reaction findings for SARS-CoV-2. One newborn tested positive within 18 days (horizontal transmission), and 5 newborns tested positive in the first day of life (possible vertical transmission). None had ocular abnormalities. Concerning exposed newborns with negative test results, 1 presented with venous engorgement and vascular tortuosity, 7 had intraretinal hemorrhages, and 2 were diagnosed as having retinopathy of prematurity. CONCLUSIONS AND RELEVANCE: In this uncontrolled case series of Brazilian newborns of mothers with COVID-19 infection, a low rate of COVID-19 infection was found among newborns, and none had ocular abnormalities. Additional controlled studies may be warranted to confirm these findings.