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Full-Text Articles in Ophthalmology
Custom Ampliseq Targeted Sequencing Panel For Orphan Pediatric Retinal Diseases: Norrie Disease, Fevr, And Retinoschisis, Michael Sun, Wendy Dailey, Amanda Petrilli Cicerone, Jennifer Felisky, Kaylee Moyer, Naomi Haque, Alvaro Guzman, Kendra Mellert, Kimberly Drenser, Kenneth P. Mitton
Custom Ampliseq Targeted Sequencing Panel For Orphan Pediatric Retinal Diseases: Norrie Disease, Fevr, And Retinoschisis, Michael Sun, Wendy Dailey, Amanda Petrilli Cicerone, Jennifer Felisky, Kaylee Moyer, Naomi Haque, Alvaro Guzman, Kendra Mellert, Kimberly Drenser, Kenneth P. Mitton
Posters
INTRODUCTION
DNA-sequencing is not readily available in countries with little research resources or where health insurance does not cover the costs. This is especially true for very rare (orphan) inheritable retinal diseases. We wanted to develop a rapid targeted-sequencing protocol for eight genes involved in Familial Exudative Vitreo-Retinopathy (FEVR), Norrie Disease, and Retinoschisis, at greatly reduced cost.
Optic Disc Pit Maculopathy Leading To Vision Loss In A Pediatric Patient, Allyson Hall
Optic Disc Pit Maculopathy Leading To Vision Loss In A Pediatric Patient, Allyson Hall
Posters
This case will review optic disc pit maculopathy in children and treatments available. An emphasis in vision rehabilitation will be discussed as any visual insult during this development period can lead to long-term visual consequences.