RT - Journal TY - JOUR A1 - Khetan, Vikas A1 - Zanolli, Mario A1 - Capasso, Jenina A1 - Refice, Nanette A1 - Neeley, Kimberley A1 - Levin, Alex T1 - How genetics works? An illustrative case report YR - 2016/5/1 JF - Indian Journal of Ophthalmology JO - Indian J Ophthalmol SP - 399 OP - 402 VO - 64 IS - 5 UL - https://journals.lww.com/ijo/pages/default.aspx/article.asp?issn=0301-4738;year=2016;volume=64;issue=5;spage=399;epage=402;aulast=Khetan;t=5 DO - 10.4103/0301-4738.185629 N2 - 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. ER -