Birth Defects of the Child Optic Disc: Diagnostic Challenges and Prospects for Care

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.

A Rare Cause of Leukocoria in Children: Persistent Hyperplastic Primary Vitreous

Introduction: Leukocoria, a whitish pupillary reflection, is a common warning sign of various pediatric ocular pathologies, including Persistent hyperplastic primary vitreous (PHVP). This case report describes the observation of a 3-year-old child with melanoderma, presenting with a white spot in the left eye since birth. Observation: Uncorrected distance visual acuity was 2/10 in the right eye and hand movements were perceived at 2 meters in the left eye. Examination of the anterior segment in the left eye revealed leukocoria and microphthalmia. The fundus examination was normal in the right eye but revealed a white mass extending from the center of the optic disc towards the temporal region in the left eye. Ocular imaging, including ocular ultrasound and optical coherence tomography, confirmed the diagnosis of PHVP, illustrated by a residual white mass at the center of the optic disc in the left eye. Conclusion: PHVP should be considered in the presence of leukocoria in a child, with urgent exclusion of retinoblastoma. This observation underscores the importance of early diagnosis for appropriate management. .

Morning Glory Syndrome or Bindweed Flower Papilla Syndrome

Introduction: Morning Glory Syndrome (MGS) is a rare anomaly of the optic nerve characterized by a flower-shaped excavation in the optic disc. This anatomical peculiarity is of growing interest due to its impact on vision and the therapeutic challenges it presents. Despite research advances, gaps persist, requiring thorough exploration to better understand this rare condition. We present the case of a young girl. Observation: A 7-year-old girl presented with persistent deterioration of vision in the right eye since birth. Visual acuity was counting fingers at 2 meters in the right eye and 10/10 in the left eye. Biomicroscopy was normal in both eyes, and fundus examination revealed a funnel-shaped excavation at the optic disc of the right eye, associated with central glial proliferation, thin blood vessels in a radial distribution, and atrophy of the neuroretinal rim. Additional tests confirmed the diagnosis of isolated unilateral Morning Glory Syndrome in the right eye. Combined treatment included appropriate optical correction and functional rehabilitation. Regular ophthalmological follow-up over a one-year period was established to monitor visual acuity evolution, optic disc stability, and detect any potential complications. The reserved prognosis was marked by the absence of ocular complications and maintenance of initial visual acuity in the right eye. Conclusion: The positive response to management underscores the importance of an integrated approach, early diagnosis, therapeutic adherence, and personalized strategies.