Deep phenotyping of PROM1-associated retinal degeneration.

BACKGROUND/AIMS: The purpose of this study was to investigate retinal structure in detail of subjects with autosomal-dominant (AD) and autosomal-recessive (AR) PROM1-associated retinal degeneration (PROM1-RD), study design: institutional, cross-sectional study. METHODS: Four eyes from four subjects (three with AD and one with AR) PROM1-RD were investigated by ophthalmic examination including best-corrected visual acuity (BCVA) and multimodal retinal imaging: fundus autofluorescence (FAF), spectral-domain optical coherence tomography (SD-OCT) and adaptive optics scanning light ophthalmoscopy. Quantitative assessment of atrophic lesions determined by FAF, thickness of individual retinal layers and cone photoreceptor quantification was performed. RESULTS: BCVA ranged from 20/16 to 20/200. Initial pathological changes included the presence of hyperautofluorescent spots on FAF imaging, while later stages demonstrated discrete areas of atrophy. In all patients, thinning of the outer retinal layers on SD-OCT with varying degrees of atrophy could be detected depending on disease-causing variants and age. Cone density was quantified both in central and/or at different eccentricities from the fovea. Longitudinal assessments were possible in two patients. CONCLUSIONS: PROM1-RD comprises a wide range of clinical phenotypes. Depending on the stage of disease, the cone mosaic in PROM1-RD is relatively preserved and can potentially be targeted by cone-directed interventions.

Progression of PROM1-Associated Retinal Degeneration as Determined by Spectral-Domain Optical Coherence Tomography Over a 24-Month Period.

PURPOSE: To evaluate the progression of atrophy as determined by spectral-domain optical coherence tomography (SD-OCT) in patients with molecularly confirmed PROM1-associated retinal degeneration (RD) over a 24-month period. DESIGN: International, multicenter, prospective case series. METHODS: A total of 13 eyes (13 patients) affected with PROM1-associated RD were enrolled at 5 sites and SD-OCT images were obtained at baseline and after 24 months. Loss of mean thickness (MT) and intact area were estimated after semi-automated segmentation for the following individual retinal layers in the central subfield (CS), inner ring, and outer ring of the ETDRS grid: retinal pigment epithelium (RPE), outer segments (OS), inner segments (IS), outer nuclear layer (ONL), inner retina (IR), and total retina (TR). RESULTS: Statistically significant losses of thickness of RPE and TR were detected in the CS and inner ring and of ONL and IS in the outer ring (all P < .05); a statistically significant decrease in the intact area of RPE and IS was observed in the inner ring, and of ONL in the outer ring (all P < .05); the change in MT and the intact area of the other layers showed a trend of decline over an observational period of 24 months. CONCLUSIONS: Significant thickness losses could be detected in outer retinal layers by SD-OCT over a 24-month period in patients with PROM1-associated retinal degeneration. Loss of thickness and/or intact area of such layers may serve as potential endpoints for clinical trials that aim to slow down the disease progression of PROM1-associated retinal degeneration.

Glaucoma Medication and Quality of Life after Phacoemulsification Combined with a Xen Gel Stent.

Glaucoma has a significant impact on quality of life. Here, we aimed to evaluate the influence of a reduction in glaucoma medications on quality of life and patient satisfaction after phacoemulsification combined with the Xen gel stent. We carried out a cross-sectional survey of patients who underwent phacoemulsification with the Xen gel stent at the Medical University of Graz, Austria. Quality of life was assessed using the German version of the Glaucoma Symptoms Scale (GSS)-questionnaire. Patients were also asked whether the operation reduced glaucoma medications and to indicate their overall satisfaction from 1 (totally discontented) up to 10 (totally contented). Questionnaires of 80 patients were evaluated. A total of 36 patients (45.0%) reported a reduction in glaucoma medications. Three items of the GSS were significantly better in patients who needed fewer glaucoma medications after the operation ("hard to see in daylight", 75.0 ± 31.1 vs. 57.7 ± 39.1, p = 0.035; "hard to see in dark places", 81.1 ± 28.7 vs. 54.9 ± 41.2, p = 0.002; and "halos around lights", 88.3 ± 25.9 vs. 68.8 ± 38.6, p = 0.002). Patient satisfaction was significantly higher when the procedure led to a reduction in glaucoma medication (8.3 ± 2.0 vs. 6.8 ± 3.1; p = 0.034). The reported quality of life and patient satisfaction were significantly better when phacoemulsification with the Xen gel stent reduced the number of glaucoma medications needed.