How genetics works? An illustrative case report.

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This article has been peer reviewed. It is the author’s final published version in Indian Journal of Ophthalmology

Volume 64, Issue 5, May 2016, Pages 399-402.

The published version is available at DOI: 10.4103/0301-4738.185629. Copyright © Indian Journal of Ophthalmology


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.

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This work is licensed under a Creative Commons Attribution-Noncommercial-Share Alike 3.0 License.

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