دورية أكاديمية

Optic disc coloboma in two nigerian siblings: Case report and review of literature.

التفاصيل البيبلوغرافية
العنوان: Optic disc coloboma in two nigerian siblings: Case report and review of literature.
المؤلفون: Babalola YO; Department of Ophthalmology, University College Hospital; Department of Ophthalmology, College of Medicine, University of Ibadan, Ibadan, Nigeria., Olawoye OO; Department of Ophthalmology, University College Hospital; Department of Ophthalmology, College of Medicine, University of Ibadan, Ibadan, Nigeria., Idam PO; Department of Ophthalmology, University College Hospital, Ibadan, Nigeria.
المصدر: Nigerian journal of clinical practice [Niger J Clin Pract] 2017 Nov; Vol. 20 (11), pp. 1505-1509.
نوع المنشور: Case Reports; Journal Article; Review
اللغة: English
بيانات الدورية: Publisher: Medknow Publications Country of Publication: India NLM ID: 101150032 Publication Model: Print Cited Medium: Internet ISSN: 1119-3077 (Print) NLM ISO Abbreviation: Niger J Clin Pract Subsets: MEDLINE
أسماء مطبوعة: Publication: Mumbai : Medknow Publications
Original Publication: [Lagos?] : Medical and Dental Consultants' Association of Nigeria
مواضيع طبية MeSH: Siblings* , Visual Acuity*, Coloboma/*diagnosis , Macula Lutea/*abnormalities , Optic Nerve/*abnormalities, Child ; Child, Preschool ; Coloboma/physiopathology ; Female ; Humans ; Macula Lutea/physiopathology ; Optic Disk ; Optic Nerve/physiopathology ; Syndrome
مستخلص: We report two cases of bilateral asymmetric optic disc coloboma (ODC) in siblings. The index patient is a 9-year-old Nigerian girl with severe cognitive deficit who presented with a poor vision of 3 years' duration. She had a history of childhood febrile convulsions and delayed developmental milestones. Her visual acuity could not be assessed because she had a cognitive deficit and expressive aphasia. Ocular examination revealed a very large excavated right optic disc with only a strip of remnant neuro-retinal rim superiorly, and a smaller left optic disc with inferior disc excavation, superior wedge of the pink neuro-retinal rim as well as a temporal optic disc pit. No systemic features of syndromes associated with ODCs and intellectual disability were present in both patients. The younger sibling an 8-year-old girl later presented to the eye clinic with a 5-month history of poor vision in the left eye. Ocular examination revealed visual acuity of 6/6 in the right eye and counting fingers in the left eye. Dilated binocular indirect ophthalmoscopy revealed a right large excavated colobomatous disc and a left small disc with infero-temporal disc coloboma.
SCR Disease Name: Coloboma of optic nerve
تواريخ الأحداث: Date Created: 20180106 Date Completed: 20180611 Latest Revision: 20180611
رمز التحديث: 20240628
DOI: 10.4103/njcp.njcp_412_16
PMID: 29303140
قاعدة البيانات: MEDLINE
الوصف
تدمد:1119-3077
DOI:10.4103/njcp.njcp_412_16