How genetics works? An illustrative case report
| Autor: | Vikas Khetan, Mario Zanolli, Jenina Capasso, Nanette Zale Refice, Kimberley Neeley, Alex V Levin |
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| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: | |
| Zdroj: | Indian Journal of Ophthalmology, Vol 64, Iss 5, Pp 399-402 (2016) |
| Druh dokumentu: | article |
| ISSN: | 0301-4738 1998-3689 |
| DOI: | 10.4103/0301-4738.185629 |
| Popis: | In this communication, we report the case of a four year old boy who presented with reduced vision in the right eye. He had visual acuity of light perception right eye and 6/12 in the left eye and anterior segment examination was normal. Fundus examination of the right eye showed a falciform retinal fold extending from the optic nerve temporally involving the entire retina with exudates within the falciform fold and dense pigmentation peripherally. The left eye showed mild macular temporal dragging of the vessels and 360° of peripheral laser scars. In addition he also had some characteristic systemic features such as developmental delay, obesity, dysmorphic facies and tapered fingers. Using this case as an example, we present a systematic, logical approach to a patient with a possible genetic disorder. The growing field of ocular genetics now allows for improved diagnosis using step-wise cost efficient testing as demonstrated herein. |
| Databáze: | Directory of Open Access Journals |
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