PURPOSE: To determine outcome measures for a clinical trial of @entity26000 ( @entity26000 ) associated with mutations in the @entity37188 gene. DESIGN: Retrospective observational case series. METHODS: 28 @entity1 with @entity37188 - @entity26000 (ages 2-59) were studied clinically and with chromatic full-field sensitivity testing (FST), optical coherence tomography (OCT), pupillometry, and the NEI Visual Function Questionnaire. RESULTS: FST permitted quantitation of cone and rod sensitivity in these @entity1 with severe @entity227 . For most @entity1 , the degree of rod and cone sensitivity losses showed a relationship, thereby providing an opportunity to divide @entity1 into cohorts by severity of @entity6121 . OCT analyses indicated that retinal structure could be used not only as an objective safety measure but also as an exploratory efficacy outcome. A foveal bulge was not present in 67% of @entity1 . The intensity of IS/ @entity3012 (EZ line) reflectivity was reduced significantly at the fovea and in the rod-dense superior retina. Based on OCT and FST parameters, most @entity1 had dissociation of structure and function. Abnormal pupillometry sensitivity in the majority of @entity37188 - @entity26000 @entity1 provided another objective efficacy outcome. NEI VFQ scores showed a similar range of findings to those of other severe @entity989 . CONCLUSION: Conventional outcome measures, such as visual acuity and the NEI VFQ, will need to be complemented by methods more specific to this @entity37188 - @entity26000 population. Any therapeutic strategy should determine if there is an effect on rod as well as cone function and structure. FST provides a photoreceptor-based subjective outcome; and OCT in two retinal regions, fovea and superior retina, can assess photoreceptor structure. A change in the relationship of structure and function away from baseline becomes evidence of efficacy.

Defining Outcomes for Clinical Trials of XXXX caused by @entity37188 Mutations.

@entity1 :: ('9606', 'Species') :: ['patients'] @entity227 :: ('MESH:D014786', 'Disease') :: ['visual impairment'] @entity3012 :: ('MESH:C567932', 'Disease') :: ['OS'] @entity26000 :: ('MESH:D057130', 'Disease') :: ['Leber congenital amaurosis', 'LCA'] @entity6121 :: ('MESH:C566719', 'Disease') :: ['rod and cone dysfunction'] @entity989 :: ('MESH:D012164', 'Disease') :: ['retinal diseases'] @entity37188 :: ('3000', 'Gene') :: ['GUCY2D']
@entity26000 :: (MESH:D057130,Disease) :: ['Leber Congenital Amaurosis']
