ccidental retinal laser injuries are easily diagnosed when there are known laser sources, typical macular injuries, and visual deficits consistent with retinal findings. Decisions are more difficult when retinal findings are subtle or absent, despite reported visual problems and somatic complaints. Inaccurate diagnosis of an ocular laser injury can precipitate a costly, lengthy sequence of medical and legal problems. Analysis of laser-tissue interactions and the characteristics of unambiguous retinal laser injuries provide 6 key questions to facilitate difficult diagnoses. Case reports demonstrate the usefulness of answering these questions before making diagnostic decisions. Retinal laser lesions that cause serious visual problems are readily apparent ophthalmoscopically and angiographically. Accidental, intentional, or clinical retinal laser lesions do not cause chronic eye, face, or head pains. Diagnosis of a retinal laser injury should be evidence based, not a matter of conjecture or speculation.
A novel L151F mutation in the EF4 hand domain of GCAP1 is associated with adCORD. The clinical phenotype is characterized by early cone dysfunction and a progressive loss of rod function. The biochemical phenotype is best described as persistent stimulation of photoreceptor guanylate cyclase, representing a gain of function of mutant GCAP1. Although a conservative substitution, molecular dynamics suggests a significant change in Ca(2+)-binding to EF4 and EF2 and changes in the shape of L151F-GCAP1.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.