Introduction: Congenital optic disc anomalies in children refer to structural variations of the optic nerve head present from birth. These deformations involve the size, shape, color, and vessels of the optic disc. Al...Introduction: Congenital optic disc anomalies in children refer to structural variations of the optic nerve head present from birth. These deformations involve the size, shape, color, and vessels of the optic disc. Although often asymptomatic, these anomalies can impact the visual development of the child, underscoring the importance of a thorough fundus examination for early detection and appropriate medical follow-up. We present two cases of congenital optic disc anomalies in children, illustrating the diagnostic challenges and complexity of their management. Case 1: A 3-year-old girl presented with a white spot in her left eye present since birth. Uncorrected distance visual acuity was 2/10 in the right eye, while she could perceive hand movements at 2 meters with the left eye. Normal examination in the right eye showed leukocoria, microphthalmia, and a white mass at the center of the optic disc on fundus examination in the left eye. Ocular imaging, including ultrasound and optical coherence tomography (OCT), confirmed the diagnosis of persistent hyperplastic primary vitreous (PHPV) in its mixed form in the left eye. Management included prescribing full optical correction and functional rehabilitation, without resorting to surgery. The course was marked by persistent amblyopia leading to a poor prognosis. Case 2: A 7-year-old girl consulted for vision disturbance in her right eye. Visual acuity was finger counting at 2 meters in the right eye and 10/10 in the left eye. Anterior segment examination revealed no abnormalities in both eyes. However, fundus examination highlighted a large funnel-shaped excavation associated with central glial proliferation, wheel spoke vessels, and neuroretinal ring atrophy in the right eye. Optical coherence tomography (OCT) of the right eye confirmed the diagnosis of isolated unilateral Morning Glory syndrome. Management included full optical correction and orthoptic rehabilitation. The course was marked by the absence of ocular complication and maintenance of visual stability in the right eye. The prognosis seemed favorable. Conclusion: Congenital optic disc anomalies in children exhibit great clinical variability and require an individualized diagnostic and therapeutic approach.展开更多
Neogenin is a transmembrane receptor critical for multiple cellular processes,including neurogenesis,astrogliogenesis,endochondral bone formation,and iron homeostasis.Here we present evidence that loss of neogenin con...Neogenin is a transmembrane receptor critical for multiple cellular processes,including neurogenesis,astrogliogenesis,endochondral bone formation,and iron homeostasis.Here we present evidence that loss of neogenin contributes to pathogenesis of persistent hyperplastic primary vitreous(PHPV)formation,a genetic disorder accounting for^5% of blindness in the USA.Selective loss of neogenin in neural crest cells(as observed in Wntl-Cre;Neofff mice),but not neural stem cells(as observed in GFAP-Cre and Nestin-Cre;Neo^f/f mice),resulted in a dysregulation of neural crest cell migration or delamination,exhibiting features of PHPV-like pathology(e.g.elevated retrolental mass),unclosed retinal fissure,and microphthalmia.These results demonstrate an unrecognized function of neogenin in preventing PHPV pathogenesis,implicating neogenin regulation of neural crest cell delamination/migration and retinal fissure formation as potential underlying mechanisms of PHPV.展开更多
文摘Introduction: Congenital optic disc anomalies in children refer to structural variations of the optic nerve head present from birth. These deformations involve the size, shape, color, and vessels of the optic disc. Although often asymptomatic, these anomalies can impact the visual development of the child, underscoring the importance of a thorough fundus examination for early detection and appropriate medical follow-up. We present two cases of congenital optic disc anomalies in children, illustrating the diagnostic challenges and complexity of their management. Case 1: A 3-year-old girl presented with a white spot in her left eye present since birth. Uncorrected distance visual acuity was 2/10 in the right eye, while she could perceive hand movements at 2 meters with the left eye. Normal examination in the right eye showed leukocoria, microphthalmia, and a white mass at the center of the optic disc on fundus examination in the left eye. Ocular imaging, including ultrasound and optical coherence tomography (OCT), confirmed the diagnosis of persistent hyperplastic primary vitreous (PHPV) in its mixed form in the left eye. Management included prescribing full optical correction and functional rehabilitation, without resorting to surgery. The course was marked by persistent amblyopia leading to a poor prognosis. Case 2: A 7-year-old girl consulted for vision disturbance in her right eye. Visual acuity was finger counting at 2 meters in the right eye and 10/10 in the left eye. Anterior segment examination revealed no abnormalities in both eyes. However, fundus examination highlighted a large funnel-shaped excavation associated with central glial proliferation, wheel spoke vessels, and neuroretinal ring atrophy in the right eye. Optical coherence tomography (OCT) of the right eye confirmed the diagnosis of isolated unilateral Morning Glory syndrome. Management included full optical correction and orthoptic rehabilitation. The course was marked by the absence of ocular complication and maintenance of visual stability in the right eye. The prognosis seemed favorable. Conclusion: Congenital optic disc anomalies in children exhibit great clinical variability and require an individualized diagnostic and therapeutic approach.
文摘Neogenin is a transmembrane receptor critical for multiple cellular processes,including neurogenesis,astrogliogenesis,endochondral bone formation,and iron homeostasis.Here we present evidence that loss of neogenin contributes to pathogenesis of persistent hyperplastic primary vitreous(PHPV)formation,a genetic disorder accounting for^5% of blindness in the USA.Selective loss of neogenin in neural crest cells(as observed in Wntl-Cre;Neofff mice),but not neural stem cells(as observed in GFAP-Cre and Nestin-Cre;Neo^f/f mice),resulted in a dysregulation of neural crest cell migration or delamination,exhibiting features of PHPV-like pathology(e.g.elevated retrolental mass),unclosed retinal fissure,and microphthalmia.These results demonstrate an unrecognized function of neogenin in preventing PHPV pathogenesis,implicating neogenin regulation of neural crest cell delamination/migration and retinal fissure formation as potential underlying mechanisms of PHPV.
