Phenotype Phebruary Day 28 - Disabilities: Severe Visual Impairment and Blindness

[jwyrwa (Jordan Wyrwa)]

@Patrick_Ryan

Cortical blindness

I apologize in advance if this is a dumb question - why was this concept excluded? Your other exclusions make sense to me if the goal is to exclude temporary / context-specific causes of loss of vision / blindness. Cerebral/cortical visual impairment is the currently preferred clinical term (although, if we split hairs, cortical is more specific), which @ClaudiaP included in the clinical description.

@Patrick_Ryan

You’ve provided a lot of chew on, some of which I’d comment on here, but I’ll start with my gut intuition: if blindness is not always coded, but a wide array of diseases/complications underlying or causing the blindness are coded, then this might be an excellent candidate for probabilistic phenotyping, because it could be a complex model to capture the events around visual disturbance and may be difficult to model in a rule-based heuristic, but an APHRODITE-style approach may provide some insights. I’d defer to @Juan_Banda on this idea though, since he’s our resident community expert on probabilistic phenotyping.

music to my ears as a rehab medicine physician working with children with disabilities. Truly identifying these patients seemingly always results in a large portion of manual chart review. Thank you @Patrick_Ryan for sharing your wisdom. Time for me to learn more about APHRODITE!