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.

Protective Effect of Amblyopia on Age-Related Macular Degeneration.

PURPOSE: Our aim was to evaluate whether patients with age-related macular degeneration (AMD) and cooccurrent amblyopia are more likely to have diseases diagnosed on both the ipsilateral and the contralateral side in a large Austrian database. DESIGN: Retrospective cross-sectional study. METHODS: Setting: Institutional practice. PATIENT POPULATION: Medical records of all patients who visited the Department of Ophthalmology of the Medical University of Graz between December 1996 and June 2021 were searched for the co-occurrence of AMD and amblyopia. MAIN OUTCOME MEASURES: Data from patients with AMD diagnosed on 1 eye side were used for further analysis. Spectral-domain optical coherence tomography images were analyzed to confirm the lateral asymmetry of AMD. RESULTS: A total of 327,443 patients were screened for the co-occurrence of AMD and amblyopia. Of them, 8742 patients had AMD diagnosed on 1 eye side and 5051 patients had unilateral amblyopia. In total, 163 patients were found to have AMD diagnosed on 1 side and unilateral amblyopia in combination. Of these, 126 patients had AMD and amblyopia on contralateral sides and 37 had AMD and amblyopia on the ipsilateral side (P < .001). CONCLUSIONS: Less amblyopic patients had AMD diagnosed on the amblyopic eye compared with the nonamblyopic eye. In cases of lateral asymmetry, the nonamblyopic eye is more likely to have the more advanced form of AMD.

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.

Influence of combined phacovitrectomy without tamponade on intraocular lens displacement and postoperative refraction.

PURPOSE: To compare phacoemulsification versus phacovitrectomy regarding postoperative intraocular lens (IOL) shift and refraction. METHODS: This prospective bilateral comparison study included 40 eyes of 20 patients. Inclusion criteria were combined phacovitrectomy without gas/air tamponade in one eye and cataract surgery in the contralateral eye with implantation of the same IOL. Postoperative anterior chamber depth (ACD) was compared between both groups 1-5 hr, 1 day and 8 weeks after surgery. Postoperative refraction was compared after 8 weeks using the Holladay I, HofferQ, SRK/T, Haigis and Barrett formulae. RESULTS: There were no intergroup differences in ACD (8 weeks: 0.02 mm absolute difference, SD 0.22, range -0.36 to 0.65, p = 0.401), mean absolute refractive error (8 weeks: Holladay I p = 0.452; HofferQ p = 0.475; SRK/T p = 0.498; Haigis p = 0.869; and Barrett p = 0.352) or percentages within the 0.5 D and 1.0 D range at any time-point. All formulae were optimized for the phacovitrectomy and the cataract groups. There was no correlation of macular thickness change and refractive error (cataract group r2 = -0.13, p = 0.58; phacovitrectomy group r2 = -0.10, p = 0.68). CONCLUSION: Combined phacovitrectomy without air/ gas tamponade caused neither ACD displacement nor refractive shifts compared to phacoemulsification alone. Surgically induced macular thickness change had no significant influence on postoperative refraction in this study. All five IOL formulae showed comparable postoperative refractive outcomes.

In-depth analysis of risk factors for pseudophakic retinal detachments and retinal breaks.

PURPOSE: To provide a detailed analysis of risk factors for pseudophakic retinal detachments (PRD) and pseudophakic retinal breaks (PRB). MATERIALS AND METHODS: We reviewed the medical records of cataract surgeries between 1996 and 2017 at a tertiary care hospital in Austria. A Cox proportional-hazard regression model was used to analyse risk factors for PRD and PRB. RESULTS: Sixty-five thousand six hundred and sixty-two eyes (45 043 patients) underwent phacoemulsification, and 393 eyes (cumulative incidence 0.6%) were diagnosed with PRD (327 eyes) or PRB (66 eyes) during the follow-up (median 7.1 years, range 0-21). Calculation of adjusted hazard ratios (HR) revealed a hierarchy of risk factors for either event including (from the highest to the lowest risk) posterior capsular rupture (PCR), patient age <65 years (compared with the age group >75 years), male gender and high myopia. Diabetes mellitus was associated with a lower risk. PCR was the strongest risk factor for PRD both in patients with and without perioperative vitrectomy (i.e. vitreous loss), but time to PRD was significantly reduced only following PCR with vitrectomy. CONCLUSIONS: Posterior capsular rupture, young patient age, male gender and high myopia were risk factors for PRD, but diabetes mellitus was associated with a lower risk. PCR had the strongest association with PRD, regardless of the need for perioperative vitrectomy due to vitreous loss. Time to PRD was reduced in patients with PCR and vitrectomy compared with PCR without the need for vitrectomy or uneventful surgery.