Abstract

Two siblings aged 9 and 15 years with unexplained visual loss had normal pupillary reactions, unremarkable anterior and posterior segment, normal fluorescein angiography, visual evoked potential, and flash electroretinogram (ERG). Spectral domain optical coherence tomography (OCT) showed loss of normal inner segment-outer segment (IS-OS) junction line bump at fovea in one and absent IS-OS junction line at fovea in the other. Characteristic hypovoltaged responses from central macula in multifocal ERG (mfERG) confirmed the diagnosis of occult macular dystrophy (OMD) in both siblings. Marked difference in OCT findings despite same visual acuity indicate that structural changes in OCT might not always correlate with the extent of functional loss. Obvious mfERG changes and very subtle OCT defect in the younger one suggests that functional changes probably appear much earlier than the structural changes. OMD is often underdiagnosed because of lack of high index of suspicion and detailed work up. The patients presented here represent first OMD report from India, one of them being the second youngest reported so far (medline search).

Keywords

Publication details

DOI
10.4103/0974-620x.176103
Journal
Oman Journal of Ophthalmology, 9(1), 55-58
Publisher
Medknow Publications
Open access
Gold open access

Cite this article

APA 7

Padhi, T. R., Videkar, C., Jalali, S., Mukherjee, S., Panda, K. G., & Das, T. (2016). Structural and functional evaluation of macula in a 9-year-old boy with occult macular dystrophy and his affected elder sibling. Oman Journal of Ophthalmology, 9(1), 55-58. https://doi.org/10.4103/0974-620x.176103

MLA 9

Padhi, Tapas Ranjan, et al. "Structural and functional evaluation of macula in a 9-year-old boy with occult macular dystrophy and his affected elder sibling." Oman Journal of Ophthalmology, vol. 9, no. 1, 2016, pp. 55-58. https://doi.org/10.4103/0974-620x.176103.

Chicago (author–date)

Padhi, Tapas Ranjan, Chetan Videkar, Subhadra Jalali, Sujoy Mukherjee, Krushna Gopal Panda, and Taraprasad Das. 2016. "Structural and functional evaluation of macula in a 9-year-old boy with occult macular dystrophy and his affected elder sibling." Oman Journal of Ophthalmology 9 (1): 55-58. https://doi.org/10.4103/0974-620x.176103.

Harvard

Padhi, T. R., Videkar, C., Jalali, S., Mukherjee, S., Panda, K. G. and Das, T. (2016) 'Structural and functional evaluation of macula in a 9-year-old boy with occult macular dystrophy and his affected elder sibling', Oman Journal of Ophthalmology, 9(1), pp. 55-58. doi:10.4103/0974-620x.176103.

Vancouver

Padhi TR, Videkar C, Jalali S, Mukherjee S, Panda KG, Das T. Structural and functional evaluation of macula in a 9-year-old boy with occult macular dystrophy and his affected elder sibling. Oman Journal of Ophthalmology. 2016;9(1):55-58. doi:10.4103/0974-620x.176103

IEEE

T. R. Padhi, C. Videkar, S. Jalali, S. Mukherjee, K. G. Panda, and T. Das, "Structural and functional evaluation of macula in a 9-year-old boy with occult macular dystrophy and his affected elder sibling," Oman Journal of Ophthalmology, vol. 9, no. 1, pp. 55-58, 2016, doi: 10.4103/0974-620x.176103.