Cone Photoreceptor Abnormalities Correlate with Vision Loss in Patients with Stargardt Disease

Adaptive optics scanning laser ophthalmoscopy demonstrated abnormal cone spacing in regions of abnormal fundus autofluorescence and reduced visual function in 12 patients with Stargardt disease

Cone Structure in Retinal Degeneration Associated with Mutations in the peripherin/RDS Gene

Adaptive optics scanning laser ophthalmoscopy demonstrated abnormal cone spacing in patients with retinal degeneration associated with mutations in the peripherin/RDS gene

Longitudinal Study of Cone Photoreceptors during Retinal Degeneration and in Response to Ciliary Neurotrophic Factor Treatment

Adaptive optics scanning laser ophthalmoscopy demonstrated improved photoreceptor survival in eyes that received sustained-release ciliary neurotrophic factor compared with contralateral eyes, which showed progressive photoreceptor death

High-Resolution Images of Retinal Structure in Patients with ChoroideremiaHigh-Resolution Retinal Images in Choroideremia

PurposeTo study retinal structure in choroideremia patients and carriers using high-resolution imaging techniques.MethodsSubjects from four families (six female carriers and five affected males) with choroideremia (CHM) were characterized with best-corrected visual acuity (BCVA), kinetic and static perimetry, full-field electroretinography, and fundus autofluorescence (FAF). High-resolution macular images were obtained with adaptive optics scanning laser ophthalmoscopy (AOSLO) and spectral domain optical coherence tomography (SD-OCT). Coding regions of the CHM gene were sequenced.ResultsMolecular analysis of the CHM gene identified a deletion of exons 9 to 15 in family A, a splice site mutation at position 79+1 of exon 1 in family B, deletion of exons 6 to 8 in family C, and a substitution at position 106 causing a premature stop in family D. BCVA ranged from 20/16 to 20/63 in carriers and from 20/25 to 5/63 in affected males. FAF showed abnormalities in all subjects. SD-OCT showed outer retinal layer loss, outer retinal tubulations at the margin of outer retinal loss, and inner retinal microcysts. Patchy cone loss was present in two symptomatic carriers. In two affected males, cone mosaics were disrupted with increased cone spacing near the fovea but more normal cone spacing near the edge of atrophy.ConclusionsHigh-resolution retinal images in CHM carriers and affected males demonstrated RPE and photoreceptor cell degeneration. As both RPE and photoreceptor cells were affected, these cell types may degenerate simultaneously in CHM. These findings provide insight into the effect of CHM mutations on macular retinal structure, with implications for the development of treatments for CHM. (ClinicalTrials.gov number, NCT00254605.)

Concordant and discordant associations between rheumatoid arthritis, systemic lupus erythematosus and ankylosing spondylitis based on all hospitalizations in Sweden between 1973 and 2004

Objectives. To quantify the sibling risk of RA, SLE and AS. To analyse the concordant and discordant associations between RA, SLE and AS