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Year : 2016  |  Volume : 64  |  Issue : 5  |  Page : 399-402

How genetics works? An illustrative case report

1 Department of Ocular Genetics, Wills Eye Hospital, Philadelphia, PA, USA
2 Geisinger Health System, Sranton, PA, USA
3 Penn State Hershey Eye Center, PA, USA
4 Department of Ocular Genetics, Wills Eye Hospital, Philadelphia, PA; Thomas Jefferson University, PA, USA

Correspondence Address:
Dr. Alex V Levin
Pediatrics Ophthalmology and Ocular Genetics, Wills Eye Hospital, Suite 1201, 840 Walnut Street, Philadelphia, PA 19107-5109
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0301-4738.185629

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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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