Tim Ratzlaff

TL;DR: A linkage study in a large pedigree with seven definitely affected, six possibly affected and 16 phenotypically unaffected family members assigns an ITD gene for the common focal form with a maximal lod score of 3.17 to the region telomeric of D18S1153 on chromosome 18p.

TL;DR: Although SCA2 in most patients cannot be distinguished from other spinocerebellar ataxias by clinical criteria, in some patients it exhibits a particular phenotype with early neuropathy/late slow saccades and late myoclonus, and complete allelic association within the Holguin population was established with the microsatellite D12S105.

TL;DR: It is concluded that RED is a reliable method for analyzing expanded repeat sequences in the genome in disorders where linkage is complicated by phenotyping problems in gradually developing adult-onset disorders, as in the non-SCA1–5 family examined.

TL;DR: The eConsult Vision Pilot Project as discussed by the authors provides an opportunity for patients to get access to specialty advice by connecting optometrists to ophthalmologists on an econsult service.

TL;DR: Compared to injection naive eyes, multiple intravitreal injections at the repeated sCleral quadrant results in scleral thinning.