Purpose: To show epidemiological and imaging aspects of congenital optic disc abnormalities diagnosed late. Method: It was a retrospective study, including all patients with congenital optic disc abnormalities diagnosed at a late age between January 2020 and October 2022 at the eye center of Abass Ndao Hospital. Complete ophthalmological examination was performed with eye imaging according to the cases. Results: 09 patients (10 eyes) were diagnosed with congenital optic disc abnormalities. The mean age was 29 years, with a sex ratio of 0.8. Three patients had consulted for unilateral decreased visual acuity since childhood, two for sudden vision loss and in four cases the diagnosis was fortuitous. Visual acuity was ranged from 1/200 to 20/20. Fundus examination showed myelinated retinal nerve fibers in four eyes, optic disc pit in three eyes including two complicated by maculopathy, two cases of morning glory syndrome and a case of pseudoduplication of the optic disc. Optical coherence tomography, ocular ultrasound B and OCT-Angiography were performed according to the cases. Conclusion: Congenital optic disc abnormalities are often diagnosed late. They are potentially amblyogenic and complications are not rare, worsening the visual prognosis. Their screening should be systematic by ophthalmological examination in newborns.
References
[1]
Denis, D., Hugo, J., Beylerian, M., Ramtohul, P., Aziz, A., Matonti, F., et al. (2019) Congenital Abnormalities of the Optic Disc. Journal Françaisd’Ophtalmologie, 42, 778-789. https://doi.org/10.1016/j.jfo.2018.09.011
[2]
Brémond-Gignac, D. and Milazzo, S. (2011) Optic Disc Abnormalities in Children. Les Cahiers d’Ophtalmologie, 146, 33-34.
[3]
Brodsky, M.C. (1994) Congenital Optic Disk Anomalies. Survey of Ophthalmology, 39, 89-112. https://doi.org/10.1016/0039-6257(94)90155-4
[4]
Williams, T.D. (1986) Medullated Retinal Nerve Fibers: Speculations on Their Cause and Presentation of Cases. American Journal of Optometry and Physiological Optics, 63, 142-151. https://doi.org/10.1097/00006324-198602000-00010
[5]
Traboulsi, E.I., Lim, J.I., Pyeritz, R., Goldberg, H.K. and Haller, JA. (1993) A New Syndrome of Myelinated Nerve Fibers, Vitreoretinopathy, and Skeletal Malformations. Archives of Ophthalmology, 111, 1543-1545. https://doi.org/10.1001/archopht.1993.01090110109034
[6]
Cekić, S., Stanković-Babić, G., Višnjić, Z., Jovanović, I. and Risimić, D. (2010) Optic Disc Abnormalities—Diagnosis, Evolution and Influence on Visual Acuity. Bosnian Journal of Basic Medical Sciences, 10, 125-132. https://doi.org/10.17305/bjbms.2010.2711
[7]
Brown, G.C., Shields, J.A. and Goldberg, R.E. (1980) Congenital Pits of the Optic Nerve Head: II. Clinical Studies in Humans. Ophthalmology, 87, 51-65. https://doi.org/10.1016/S0161-6420(80)35278-0
[8]
Irvine, A.R., Crawford, J.B. and Sullivan, J.H. (1986) The Pathogenesis of Retinal Detachment with Morning Glory Disc and Optic Pit. Retina, 6, 146-150. https://doi.org/10.1097/00006982-198600630-00002
[9]
Loudot, C., Fogliarini, C., Baeteman, C., Mancini, J., Girard, N. and Denis, D. (2007) Rehabilitation on Functional Amblyopia in Morning Glory Syndrome. Journal Françaisd’Ophtalmologie, 30, 998-1001. https://doi.org/10.1016/S0181-5512(07)79276-8
[10]
Zou, Y., She, K., Hu, Y., Ren, J., Fei, P., Xu, Y., et al. (2022) Clinical and Echographic Features of Morning Glory Disc Anomaly in Children: A Retrospective Study of 249 Chinese Patients. Frontiers in Medicine, 8, Article 800623. https://doi.org/10.3389/fmed.2021.800623
[11]
Padhi, T.R., Samal, B., Kesarwani, S., Basu, S. and Das, T. (2012) Optic Disc Doubling. Journal of Neuro-Ophthalmology, 32, 238-239. https://doi.org/10.1097/WNO.0b013e3182464d9f
[12]
Koman, C.E., Soumahoro, M., Sowagnon, Y.T.C., Kra, A.N.S., Agbohoun, R.P., Kouakou, A.A., et al. (2021) Late Discovery Congenital Anomalies of the Papilla. A Report about 5 Cases. SOAO Review, No. 2, 15-21.
[13]
Diatewa, B.M., Maneh, N., Domingo, A.S., Gnansa, K.E., Ayikoue, Y.F.A., et al. (2021) Congenital Ocular Anomalies at the University Hospital Campus in Lome, Togo. The Pan African Medical Journal, 38, Article No. 79.