LONGITUDINAL STRUCTURAL CHANGES IN LATE-ONSET RETINAL DEGENERATION.

PURPOSE: To characterize longitudinal structural changes in early stages of late-onset retinal degeneration to investigate pathogenic mechanisms. METHODS: Two affected siblings, both with a S163R missense mutation in the causative gene C1QTNF5, were followed for 8+ years. Color fundus photos, fundus autofluorescence images, near-infrared reflectance fundus images, and spectral domain optical coherence tomography scans were acquired during follow-up. RESULTS: Both patients, aged 45 and 50 years, had good visual acuities (>20/20) in the context of prolonged dark adaptation. Baseline color fundus photography demonstrated yellow-white, punctate lesions in the temporal macula that correlated with a reticular pattern on fundus autofluorescence and near-infrared reflectance imaging. Baseline spectral domain optical coherence tomography imaging revealed subretinal deposits that resemble reticular pseudodrusen described in age-related macular degeneration. During follow-up, these affected areas developed confluent thickening of the retinal pigment epithelial layer and disruption of the ellipsoid zone of photoreceptors before progressing to overt retinal pigment epithelium and outer retinal atrophy. CONCLUSION: Structural changes in early stages of late-onset retinal degeneration, revealed by multimodal imaging, resemble those of reticular pseudodrusen observed in age-related macular degeneration and other retinal diseases. Longitudinal follow-up of these lesions helps elucidate their progression to frank atrophy and may lend insight into the pathogenic mechanisms underlying diverse retinal degenerations.

Impairments in Dark Adaptation Are Associated with Age-Related Macular Degeneration Severity and Reticular Pseudodrusen.

PURPOSE: We investigate whether ocular and person-based characteristics were associated with dark adaptation (DA). DESIGN: Cross-sectional, single-center, observational study. PARTICIPANTS: One hundred sixteen participants older than 50 years of age with a range of age-related macular degeneration (AMD) severity. METHODS: Participants underwent best-corrected visual acuity (BCVA) testing, ophthalmoscopic examination, and multimodal imaging. Presence of reticular pseudodrusen (RPD) was assessed by masked grading of fundus images and was confirmed with optical coherence tomography. Eyes also were graded for AMD features (drusen, pigmentary changes, late AMD) to generate person-based AMD severity groups. One eye was designated the study eye for DA testing. Nonparametric statistical testing was performed on all comparisons. MAIN OUTCOME MEASURES: The primary outcome of this study was the rod intercept time (RIT), which is defined as the time for a participant's visual sensitivity to recover to a stimulus intensity of 5×10(-3) cd/m(2) (a decrease of 3 log units), or until a maximum test duration of 40 minutes was reached. RESULTS: A total of 116 study eyes from 116 participants (mean age, 75.4±9.4 years; 58% female) were analyzed. Increased RIT was associated significantly with increasing AMD severity, increasing age (r = 0.34; P = 0.0002), decreasing BCVA (r = -0.54; P < 0.0001), pseudophakia (P = 0.03), and decreasing subfoveal choroidal thickness (r = -0.27; P = 0.003). Study eyes with RPD (15/116 [13%]) had a significantly greater mean RIT compared with eyes without RPD in any AMD severity group (P < 0.02 for all comparisons), with 80% reaching the DA test ceiling. CONCLUSIONS: Impairments in DA increased with age, worse visual acuity, presence of RPD, AMD severity, and decreased subfoveal choroidal thickness. Analysis of covariance found the multivariate model that best fit the data included age, AMD group, and presence of RPD (R(2) = 0.56), with the presence of RPD conferring the largest parameter estimate.

Surgical Management of Glaucoma Secondary to Bilateral Acute Iris Transillumination: A Role for Gonioscopy-assisted Transluminal Trabeculotomy.

PURPOSE: We report a case of bilateral acute iris transillumination (BAIT) in a young woman associated with ocular hypertension which eventually progressed to glaucoma that was treated with gonioscopy-assisted transluminal trabeculectomy (GATT). CASE REPORT: A 37-year-old otherwise healthy female presented with intermittently red and inflamed eyes and blurred vision. She was treated with oral moxifloxacin months prior to presentation. Iris transillumination defects, a pigmented anterior chamber reaction, the absence of keratic precipitates, and a history of upper respiratory infection treated with an oral fluoroquinolone prompted the diagnosis of BAIT. Intraocular pressure (IOP) remained uncontrolled on multiple glaucoma medications. Following the development of new visual field defects, indicating progression to glaucoma, GATT with cataract extraction was performed. CONCLUSION: Although surgical intervention is rare with BAIT, our case demonstrates that GATT may be used effectively in those patients needing better IOP control before considering incisional glaucoma surgery.