Retinal Atrophy Research Articles

Measuring Geographic Atrophy Area Using Column-Based Machine Learning Software on Spectral-Domain Optical Coherence Tomography versus Fundus Auto Fluorescence.

The purpose of this study was to compare geographic atrophy (GA) area semi-automatic measurement using fundus autofluorescence (FAF) versus optical coherence tomography (OCT) annotation with the cRORA (complete retinal pigment epithelium and outer retinal atrophy) criteria. GA findings on FAF and OCT were semi-automatically annotated at a single time point in 36 pairs of FAF and OCT scans obtained from 36 eyes in 24 patients with dry age-related macular degeneration (AMD). The GA area, focality, perimeter, circularity, minimum and maximum Feret diameter, and minimum distance from the center were compared between FAF and OCT annotations. The total GA area measured on OCT was 4.74 ± 3.80 mm2. In contrast, the total GA measured on FAF was 13.47 ± 8.64 mm2 (p < 0.0001), with a mean difference of 8.72 ± 6.35 mm2. Multivariate regression analysis revealed a significant correlation between the difference in area between OCT and FAF and the total baseline lesion perimeter and maximal lesion diameter measured on OCT (adjusted r2: 0.52; p < 0.0001) and the total baseline lesion area measured on FAF (adjusted r2: 0.83; p < 0.0001). We report that the GA area measured on FAF differs significantly from the GA area measured on OCT. Further research is warranted in order to determine the clinical relevance of these findings.

Scleral imbrication with vitreoretinal surgery as a primary procedure for retinal detachment in pathological myopia.

A 45-year-old male presented with diminution of vision in the right eye (RE) for the past 2 weeks. He underwent sequential bilateral cataract surgery 25 years ago, with an intraocular lens in RE, which was his better eye. The left eye was aphakic with a thick fibrous membrane at the pupillary plane. Visual acuity was hand movement in the RE with the iris claw lens and total bullous retinal detachment (RD). The axial length with RD was 28.6 mm in RE and 29 mm in the left eye (LE). We did a vitrectomy with scleral imbrication, endolaser, fluid gas exchange, and tamponade in the RE. The LE developed RD subsequently, and he underwent similar surgical procedures in his LE. The best corrected visual acuity in his RE was 20/80, and that in the LE was 20/120 on follow-up. RD with staphyloma is a surgical challenge as the thin atrophic retina at the posterior pole fails to conform to the concavity of staphyloma. Vitrectomy with tamponade alone does not take care of staphyloma and has more chances of recurrent detachment or persistent fluid at the posterior pole. Scleral imbrication shallows the staphyloma cavity and shortens the axial length, thereby giving a good surgical outcome.

Extensive macular atrophy with pseudodrusen-like appearance: comprehensive review of the literature.

This review focuses on extensive macular atrophy with pseudodrusen-like appearance (EMAP), a recently described maculopathy presenting with pseudodrusen-like lesions and chorioretinal atrophy more pronounced in the vertical axis. Narrative review of the literature published until May 2024. The early onset age of EMAP (50-55 years) and its distinctive natural history, which includes night blindness followed by severe vision loss, differentiate it from atrophic age-related macular degeneration (AMD). A clear pathogenesis has not been determined, but risk factors include female gender and complement system abnormalities (altered levels of C3 and CH50). Moreover, lifelong exposure to pesticides has been suggested as risk factor for direct neuronal degeneration involving rods and cones. In the early phase of the disease, reticular pseudodrusen-like lesions appear in the superior perifovea and tend to coalescence horizontally into a flat, continuous, reflective material localized between the retinal pigmented epithelium and Bruch's membrane. Over time, EMAP causes profound RPE and outer retinal atrophy in the macular area, with a recent classification reporting a 3-stages evolution pattern. Blue autofluorescence showed rapidly evolving atrophy with either hyperautofluorescent or isoautofluorescent borders. Significant similarities between the diffuse-trickling phenotype of geographic atrophy and EMAP have been reported. Macular neovascularization is a possible complication. EMAP is specific form of early-onset atrophic macular degeneration with rapid evolution and no treatment. Further studies are needed to assess the best management.

Author Reply to Letter to the Editor: In Response to: Comment on Fonollosa et al.‘s “Hyper-Reflective Outer Nuclear Layer (HONL) in Vogt-Koyanagi-Harada Disease and Sympathetic Ophthalmia”

ABSTRACT We have recently described an OCT sign in two patients (one with Vogt-Koyanagi-Harada (VKH) and the other with Sympathetic Ophthalmia) consisting of hyperreflectivity of the outer nuclear layer (HONL) that subsequently evolved into outer retina atrophy and associated with poor functional outcomes. Ali et al. have published a comment on our letter regarding HONL. They have evaluated it in 90 eyes of VKH patients. It was observed in 37 eyes (41.1%) and no associations were found between HONL and structural outcomes or final visual acuity, and no cases of retinal atrophy were described. In the present author's reply, we point out two reasons for these contradictory observations. First, we considered HONL a full thickness hyperreflectivity of the outer nuclear layer, whereas they included cases with partial thickness hyperreflectivity, hence probably milder cases. Second: they have assessed visual function by means of visual acuity, so cases with extrafoveal involvement whose functional deficiency might only be measured by other tests (i.e. visual field) might have been missed.

Sub retinal pigment epithelium hyporeflective spaces preceding large drusen collapse.

To describe and study hyporeflective sub retinal pigment epithelium (RPE) spaces in large drusen and drusenoid pigment epithelial detachment prior to collapse. Retrospective longitudinal study which enrolled patients with large and very large drusen due to intermediate age-related macular degeneration (AMD). The following optical coherence tomography (OCT) parameters were assessed: Drusen size (maximum width and height), OCT biomarkers of RPE atrophy, presence of intraretinal and subretinal fluid (IRF, SRF), acquired vitelliform lesion and sub RPE regions of hyporeflectivity within the PED compartment. Of the 50 eyes from 41 patients (mean age of 77.1 ± 9 years, 78% women) with large and very large drusen, 16 eyes progressed to collapse. Eyes with sub RPE hyporeflective spaces (n=8 eyes, 50%) were associated with greater drusen width and height than eyes without sub RPE hyporeflective spaces. At the collapse visit, eyes with sub RPE hyporeflective spaces displayed poorer visual acuity and greater iRORA (incomplete RPE outer retinal atrophy) and cRORA (complete RORA) length than eyes without sub RPE hyporeflective spaces (p=0.004 and p=0.04, respectively). Sub RPE hyporeflective spaces are a novel OCT finding of large and very large drusen that collapse to atrophy. Progressive RPE dysfunction and failure may lead to reduced drusenoid material formation and progressive degenerative hydration of the large drusen prior to collapse, but this awaits confirmation with histopathological analysis.

Interreader and Intermodality Variability in Macular Atrophy Quantification in Neovascular Age-related Macular Degeneration: Comparison of 6 Imaging Modalities

Macular atrophy is a common complication in neovascular age-related macular degeneration (AMD) and is associated with poorer visual outcomes. This study evaluated interreader and intermodality variability in measuring macular atrophy in previously treated neovascular AMD eyes without exudation using 6 imaging modalities. Prospective, cohort study. Thirty participants with previously treated neovascular AMD showing no signs of exudation at the time of enrollment and exhibiting macular atrophy. During the same clinic visit, patients were imaged using 6 different imaging modalities: color fundus photography (CFP; Clarus, Carl Zeiss Meditec), near-infrared imaging (NIR; Spectralis, Heidelberg Engineering), structural OCT (Spectralis, Heidelberg Engineering), green fundus autofluorescence (GAF; Clarus, Carl Zeiss Meditec), blue fundus autofluorescence (BAF; Spectralis, Heidelberg Engineering), and pseudocolor imaging (MultiColor; Spectralis, Heidelberg Engineering). Two readers independently measured the macular atrophy area. Interreader and intermodality agreement. The 95% coefficient of repeatability was 5.98 mm2 for CFP, 4.46 mm2 for MultiColor, 3.90 mm2 for BAF, 3.92 mm2 for GAF, 4.86 mm2 for NIR, and 3.55 mm2 for OCT. Similarly, the coefficient of variation was lowest for OCT-based grading at 0.08 and highest for NIR-based grading at 0.28. Accordingly, the intraclass correlation coefficient was 0.742 for CFP, 0.805 for MultiColor, 0.857 for BAF, 0.850 for GAF, 0.755 for NIR, and 0.917 for OCT. The 6 different imaging modalities presented measurements with different mean values, with only a limited number of comparisons not significantly different between the instruments, although measurements were correlated. The largest size of macular atrophy was measured with structural OCT-based grading (median= 4.65 mm2; interquartile range [IQR]= 4.78 mm2) and the smallest was with CFP-based grading (median= 3.86 mm2; IQR= 5.06 mm2). Inconsistencies arose from various factors. In patients with neovascular AMD, macular atrophy measurements vary significantly depending on the imaging technique used. Color fundus photography-based assessments yielded the smallest macular atrophy sizes, whereas structural OCT-based assessments produced the largest. These discrepancies stem from both the inherent limitations of each modality in assessing retinal pigment epithelial atrophy and factors related to neovascularization, such as the coexistence of fibrosis. Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

Intergrader Agreement in Grading Optical Coherence Tomography Morphologic Features in Eyes With Intermediate Nonexudative Age-Related Macular Degeneration.

To determine the reliability of a nine-point summary scale for grading intermediate age-related macular degeneration (AMD) image morphologic features based on the Early Treatment Diabetic Retinopathy Study (ETDRS) grid. Two trained graders independently divided spectral domain-optical coherence tomography (SD-OCT) scans into nine subfields and then graded each subfield for the presence of intraretinal hyperreflective foci (HRF), reticular pseudodrusen (RPD), and incomplete or complete retinal pigment epithelium and outer retinal atrophy (iRORA or cRORA). Grading results were assessed by summing the subfield grades into a nine-point summary score and also by using an eye-level binary grade for presence of the finding in any subfield. Gwet's first-order agreement coefficient (AC1) was calculated to assess intergrader agreement. Images of 79 eyes from 52 patients were evaluated. Intergrader agreement was higher when the OCT grades were summarized with a nine-point summary score (Gwet's AC1 0.92, 0.89, 0.99, and 0.99 for HRF, RPD, iRORA, and cRORA, respectively) compared with the eye-level binary grade (Gwet's AC1 0.75, 0.76, 0.97, and 0.96 for HRF, RPD, iRORA, and cRORA, respectively), with significant differences detected for HRF and RPD. The use of a nine-point summary score showed higher reliability in grading when compared to the binary subfield- and eye-level data, and thus may offer more precise estimation of AMD disease staging. These findings suggest that a nine-point summary score could be a useful means of disease staging by using findings on OCT in clinical studies of AMD.

Retinal Pigment Epithelium and Outer Retinal Atrophy (RORA) in Retinitis Pigmentosa: Functional, Structural, and Genetic Evaluation.

To examine whether the extension of retinal pigment epithelium (RPE) and outer retinal atrophy (RORA) and various other morphofunctional parameters correlate with the genetic assessment and severity of retinitis pigmentosa (RP). Thirty-eight patients (76 eyes) with RP were prospectively enrolled and underwent full ophthalmic examination, including visual field testing, full-field electroretinography (ERG), and optical coherence tomography angiography. The severity of the disease was calculated using the RP stage scoring system, and the area of RORA was assessed using the automatically calculated area of sub-RPE illumination. Blood or saliva samples were collected from subjects, and DNA extraction was performed to evaluate genetic mutations and nucleotide and amino acid variations. There was a statistically significant correlation between the extent of RORA and patient age, best-corrected visual acuity, ellipsoid zone extension, and disease severity in both eyes (each, P < 0.05). In contrast, RORA did not correlate with either the visual field or the ERG amplitude. Cumulative score and grade severity were both significantly correlated with superficial and deep capillary plexus density (both, P < 0.001) in both eyes. Evaluating RORA, we found genes with an overall less severe phenotype, such as EYS, PCDH15, and PRPF31, and those with a worse phenotype, such as RPGR. The correlation of RORA with structural, functional, and genetic assessment in RP disease leads us to consider RORA as a potential biomarker for prediction of disease stage. Multicenter studies are needed to confirm our findings. The morphofunctional and genetic correlations suggest a role for RORA in RP diagnosis and follow-up.

OUTER RETINAL COLUMNAR ABNORMALITIES: A Novel Optical Coherence Tomography Sign of CRB1 Maculopathy?

To report a novel optical coherence tomography sign in the context of CRB1 -related maculopathy termed outer retinal columnar abnormalities (ORCA). Retrospective, multicenter, observational case series of 14 eyes of eight patients with molecularly confirmed CRB1 -related maculopathy and ORCA. Multimodal imaging scans and medical records of patients with CRB1 -related maculopathy were reviewed. Outcome measures included best-corrected visual acuity, central subfield thickness on spectral-domain optical coherence tomography, presence of ORCAs, and analysis of their change in appearance over time. At baseline, mean age was 18±10 years (range 9-36 years). All patients had an isolated macular dystrophy except for 1 case harboring a triallelic pathogenic variant. Variant c.498_506del was found in 9 cases (88%). At presentation, ORCA were visible on macular spectral-domain optical coherence tomography in all cases as multiform, vertical, hyperreflective, columnar alterations extending from the ellipsoid to the outer plexiform layer, with a variable degree of hyporeflective cystic spaces in the outer and inner nuclear layers. Over 6±4.7 follow-up years, the presence of ORCA varied greatly with a decrease in ORCA associated with sequential development of retinal atrophy. A high suspicion for CRB1 -associated retinal dystrophy should arise in the presence of ORCA on spectral-domain optical coherence tomography, prompting genetic testing.

Exonic Short Interspersed Nuclear Element Insertion in FAM161A Is Associated with Autosomal Recessive Progressive Retinal Atrophy in the English Shepherd.

Progressive retinal atrophies (PRAs) are a genetically heterogeneous group of inherited eye diseases that affect over 100 breeds of dog. The initial clinical sign is visual impairment in scotopic conditions, as a consequence of rod photoreceptor cell degeneration. Photopic vision degeneration then follows, due to progression of the disease to the cone photoreceptors, and ultimately results in complete blindness. Two full-sibling English Shepherds were diagnosed with PRA at approximately 5 years old and tested clear of all published PRA genetic variants. This study sought to identify the novel PRA-associated variant segregating in the breed. We utilised a combined approach of whole genome sequencing of the probands and homozygosity mapping of four cases and 22 controls and identified a short interspersed nuclear element within an alternatively spliced exon in FAM161A. The XP_005626197.1 c.17929_ins210 variant was homozygous in six PRA cases and heterozygous or absent in control dogs, consistent with a recessive mode of inheritance. The insertion is predicted to extend exon 4 by 39 aberrant amino acids followed by an early termination stop codon. PRA is intractable to treatment, so the development of a genetic screening test, based on the associated variant, is significant, because it provides dog breeders/owners with a means of reducing the frequency of the disease variant within this breed as well as minimising the risk of breeding puppies that will develop this blinding disease.

Varied toxicity profile of intravitreal melphalan in two retinoblastoma eyes.

Retinoblastoma (RB) is the most common primary intraocular malignant tumor of childhood. Persistent or recurrent vitreous seeding is the most common reason for therapeutic failure in advanced RB. Intravitreal chemotherapy has emerged as an effective therapy for vitreous seeding in RB, with a generally acceptable safety profile. However, intravitreal chemotherapeutics, especially melphalan, can cause toxicity that may progress to total retinal atrophy. In this report, we present two cases with retinal melphalan toxicity that had varied clinical findings. One of the cases had extensive retinal atrophy that was demonstrated by hand-held spectral domain optical coherence tomography (HHSD-OCT), while the other had normal retinal anatomy on HHSD-OCT but markedly diminished retinal function on flash electroretinography.

Histomorphology and Histomorphometrics of the retina in Juvenile and Adult African Giant Rats (Cricetomys gambianus)

Aging is accompanied with various forms of functional ultrastructural and morphological changes in the eye, including the retina, leading to vision deterioration. However, age related retinal degenerative changes requires further elucidation especially as all previous studies on age-related change of the retina were done in mutant mouse strain models of hereditary retinal degenerations. The potential of using African giant rats (AGRs) as models for ageing in the eye, especially retina, was explored in this study. A total of 14 AGRs divided into two age groups (juvenile and adult) were used to study the histomorphology and histomorphometrics of the retina as well as retinal astrocyte morphology and heterogeneity. Histological findings included retinal atrophy and hypoplasia, with cellular swellings of neuronal cell populations and astrocytes soma and ramifications in the retina of adult compared to juvenile AGR. We suggest that AGR be used as animal model for translational research into normal aging process of the retina, as well as to elucidate the process of age-related neuronal cells loss.

Assessment of retinal atrophy in mixed breed dogs using spectral domain optical coherence tomography (SD-OCT) and electroretinography.

The aim of the study was to characterize retinal atrophy (RA) with progressive retinal atrophy symptoms in mixed breed dogs using ophthalmoscopy, spectral domain optical coherence tomography (SD-OCT) and electroretinography (ERG).The study was performed on 13 mixed breed dogs affected by retinal atrophy (11 males and 2 females that were 1.5-14 years old). Depending on the advancement of RA, SD-OCT examinations identified retinal abnormalities ranging from layer disorganisation to advanced atrophy. The most advanced RA occurred ventral to the optic disc. Total retinal thickness in both eyes (mean ± SD) was lower in dogs with RA compared to controls dorsally (77.7 ± 39.5 μm vs 173.5 ± 13.3 μm), ventrally (33.4 ± 29.9 μm vs 139.5 ± 10.8 μm), nasally (65.0 ± 34.5 μm vs 163.9 ± 11.0 μm) and temporally (61.8 ± 41.7 μm vs 171.9 ± 11.1 μm) to the optic disc. In dogs with locally normal architecture of inner retina, loss of definition of outer retinal layers occurred in many regions. Dark and light-adapted ERGs were reduced in 2 dogs with RA and were unrecordable in 11 dogs. Lesions evident in SD-OCT scans of mixed breed dogs affected with retinal atrophy initially appear ventrally to the optic disc and ventro-dorsally in advanced RA. In all mixed breed dogs with retinal atrophy, clinical signs and SD-OCT results correlate with ERG findings.

Synaptic Protein Loss in Extracellular Vesicles Reflects Brain and Retinal Atrophy in People With Multiple Sclerosis.

To assess whether the rate of change in synaptic proteins isolated from neuronally enriched extracellular vesicles (NEVs) is associated with brain and retinal atrophy in people with multiple sclerosis (MS). People with MS were followed with serial blood draws, MRI (MRI), and optical coherence tomography (OCT) scans. NEVs were immunocaptured from plasma, and synaptopodin and synaptophysin proteins were measured using ELISA. Subject-specific rates of change in synaptic proteins, as well as brain and retinal atrophy, were determined and correlated. A total of 50 people with MS were included, 46 of whom had MRI and 45 had OCT serially. The rate of change in NEV synaptopodin was associated with whole brain (rho = 0.31; p = 0.04), cortical gray matter (rho = 0.34; p = 0.03), peripapillary retinal nerve fiber layer (rho = 0.37; p = 0.01), and ganglion cell/inner plexiform layer (rho = 0.41; p = 0.006) atrophy. The rate of change in NEV synaptophysin was also correlated with whole brain (rho = 0.31; p = 0.04) and cortical gray matter (rho = 0.31; p = 0.049) atrophy. NEV-derived synaptic proteins likely reflect neurodegeneration and may provide additional circulating biomarkers for disease progression in MS.

Fractal phototherapy: impact on the structure and function of the retina of rabbits with modelled retinal pigment epithelium atrophy

It is believed that in degenerative diseases of the retina, photostimulation by fractal dynamics signals activates neuroplasticity, thereby increasing the efficiency of visual rehabilitation. Previously, we showed a positive effect of fractal phototherapy (FF) on the electroretinogram (ERG) of healthy rabbits and demonstrated the safety of long-term photostimulation courses for the retina. The purpose of this work is to study the effect of FF on the functional activity and morphology of the retina in rabbits with a model of retinal pathology. Material and methods. We modelled an atrophy of retinal pigment epithelium (RPE) on both eyes of 50 rabbits. 30 days after the administration of bevacizumab, the animals were divided into two groups of 25 animals each. In the main group, photostimulation was performed using a device for FF, while in the control group incandescent lamps were used that create radiation of constant intensity. In both groups, 20-minute binocular light stimulation sessions were performed daily, five times a week. ERG and optical coherence tomography of the retina were performed before and after courses of treatment which lasted 1 week, 1 and 3 months. Results. Long-term courses of FF were shown to be safe for the morphology of the retina of animals with the RPE atrophy model. In all periods of observation, biochemical studies revealed no statistically significant changes in the content of norepinephrine and dopamine in the tear as compared with baseline values. In the main group, a slight positive effect of FF on rod and cone ERG was found after 5 FF sessions, while a significant increase in the amplitude of the transient and steady-state pattern-ERG (PERG), most pronounced after a 1-month FF course, was observed. Conclusions. A positive effect of FF on the functional activity of retinal ganglion cells (RGC) may suggest that prescribing a course of FF lasting up to 1 month (20 sessions) in diseases accompanied by a pathology of RGC is advisable, whereas for patients with a pathology of the macular region, such as AMD, an effective improvement in the activity of photoreceptors and bipolar cells could probably be achieved through a 1-week course of FF, conducted under the control of electroretinography.

Sequence of Morphological Changes Preceding Atrophy in Intermediate AMD Using Deep Learning.

Investigating the sequence of morphological changes preceding outer plexiform layer (OPL) subsidence, a marker preceding geographic atrophy, in intermediate AMD (iAMD) using high-precision artificial intelligence (AI) quantifications on optical coherence tomography imaging. In this longitudinal observational study, individuals with bilateral iAMD participating in a multicenter clinical trial were screened for OPL subsidence and RPE and outer retinal atrophy. OPL subsidence was segmented on an A-scan basis in optical coherence tomography volumes, obtained 6-monthly with 36months follow-up. AI-based quantification of photoreceptor (PR) and outer nuclear layer (ONL) thickness, drusen height and choroidal hypertransmission (HT) was performed. Changes were compared between topographic areas of OPL subsidence (AS), drusen (AD), and reference (AR). Of 280 eyes of 140 individuals, OPL subsidence occurred in 53 eyes from 43 individuals. Thirty-six eyes developed RPE and outer retinal atrophy subsequently. In the cohort of 53 eyes showing OPL subsidence, PR and ONL thicknesses were significantly decreased in AS compared with AD and AR 12 and 18months before OPL subsidence occurred, respectively (PR: 20µm vs. 23µm and 27µm [P < 0.009]; ONL, 84µm vs. 94µm and 98µm [P < 0.008]). Accelerated thinning of PR (0.6µm/month; P < 0.001) and ONL (0.8µm/month; P < 0.001) was observed in AS compared with AD and AR. Concomitant drusen regression and hypertransmission increase at the occurrence of OPL subsidence underline the atrophic progress in areas affected by OPL subsidence. PR and ONL thinning are early subclinical features associated with subsequent OPL subsidence, an indicator of progression toward geographic atrophy. AI algorithms are able to predict and quantify morphological precursors of iAMD conversion and allow personalized risk stratification.

Using Multimodal Imaging to Refine the Phenotype of PRPH2-associated Retinal Degeneration

To refine retinal peripherin-2 (PRPH2)-associated retinal degeneration (PARD) phenotypes using multimodal imaging. Retrospective review of clinical records and multimodal imaging. Patients who visited the inherited retinal degeneration (IRD) clinic at 2 tertiary referral eye centers with molecularly confirmed IRD due to PRPH2 variants. Retinal imaging was reviewed using ultrawidefield (UWF) pseudocolor, UWF fundus autofluorescence, and spectral-domain OCT. Phenotypes were identified in the macular or peripheral region. A combined phenotype was considered if any phenotypes were present in both macular and peripheral regions. Mixed phenotypes in the macula or peripheral retina were considered if there were 2 distinct phenotypes identified in the same eye. The presence or absence of atrophy in the macular or peripheral area was also noted. Grading of multimodal imaging by phenotype and atrophy. A total of 144 eyes of 72 patients were included in this study. The majority of the eyes had combined macular and peripheral phenotypes (89/144, 61.8%), whereas 44 (30.6%) eyes had isolated macular findings, and 11 (7.6%) had isolated peripheral findings. Twenty-five eyes were classified with mixed macular phenotypes, whereas fundus flavimaculatus dystrophy type was the most common combined macular and peripheral phenotype (54/144, 37.5%): n= 10 with macular dystrophy and macular flavimaculatus dystrophy (MFD), and n= 15 with butterfly pattern dystrophy and MFD. Nearly half of the eyes (71/144, 49.3%) were identified to have concomitant outer retinal atrophy. Fundus flavimaculatus type dystrophy was also associated with the highest proportion of concomitant atrophy (57/71, 80.3%). Peripherin-2-associated retinal degeneration demonstrates a wide array of phenotypes using multimodal imaging. We report that combinations of classically described phenotypes were often seen. Additionally, macular and peripheral atrophy were often associated with PARD phenotypes. Refinement of PARD phenotypes using newer multimodal imaging techniques will likely assist diagnosis and future clinical trials. Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

Optical coherence tomography features in vitreoretinal lymphoma compared with non-infectious uveitis

BackgroundVitreoretinal lymphoma (VRL) is a rare intraocular malignancy that poses a diagnostic challenge due to the non-specific clinical presentation that resembles uveitis. The use of spectral domain optical coherence tomography (SD-OCT) has emerged as a valuable imaging tool to characterize VRL. Therefore, we sought to determine the specific OCT features in VRL compared to the uveitides.MethodsRetrospective chart review of patients who were seen at Mayo Clinic from January 1, 2010 through December 31, 2022.The medical records and SD-OCT images at time of initial presentation were reviewed in patients with biopsy-proven VRL, intermediate uveitis, or biopsy-confirmed sarcoid posterior uveitis. Patients with VRL or similar uveitides including intermediate uveitis or sarcoid posterior uveitis were included.ResultsThere were 95 eyes of 56 patients in the VRL group and 86 eyes of 45 patients in the uveitis group, of whom 15 (33.3%) were diagnosed with intermediate uveitis and 30 (66.7%) with sarcoid chorioretinitis. The SD-OCT features more commonly seen at initial presentation in VRL patients (vs. uveitis) included preretinal deposits (31.6% vs. 9.3%, p = 0.002), intraretinal infiltrates (34% vs. 3.5%, p < 0.001), inner retinal hyperreflective spots (15.8% vs. 0%, p < 0.001), outer retinal atrophy (22.1% vs. 2.3%, p < 0.001), subretinal focal deposits (21.1% vs. 4.7%, p = 0.001), retinal pigmented epithelium (RPE) changes (49.5% vs. 3.5%, p < 0.001), and sub-RPE deposits (34.7% vs. 0%, p < 0.001). Features more frequently seen in uveitis included epiretinal membrane (ERM) (82.6% vs. 44.2%, p < 0.001), central macular thickening (95.3% vs. 51.6%, p < 0.001), cystoid macular edema (36% vs. 11.7%, p < 0.001), subretinal fluid (16.3% vs 6.4%, p = 0.04), and subfoveal fluid (16.3% vs. 3.2%, p = 0.003). Multivariate regression analysis controlling for age and sex showed absence of ERM (OR 0.14 [0.04,0.41], p < 0.001) and absence of central macular thickening (OR 0.03 [0,0.15], p = 0.02) were associated with VRL as opposed to uveitis.ConclusionOCT features most predictive of VRL (vs. uveitis) included absence of ERM and central macular thickening.

Morphometric assessment of the choroid in dogs diagnosed with retinal atrophy (RA) with symptoms of progressive retinal atrophy, using spectral-domain optical coherence tomography (SD-OCT)

The aim of the study was to determine the thickness of choroidal layers in mixed breed dogs suffering from retinal atrophy (RA) and showing symptoms of progressive retinal atrophy (PRA), with the use of SD-OCT. The study was performed on 50 dogs divided into two groups: 25 dogs diagnosed with retinal atrophy (RA) with PRA symptoms aged 1.5-14 years and 25 healthy dogs aged 2-12 years. The dogs were examined using slit-lamp biomicroscopy, tonometry, ophthalmoscopy, fundus camera and SD-OCT (Topcon 3D OCT 2000). Measurements of the choroidal layers: RPE-Bruch membrane-choriocapillaris complex (RPE-BmCc) with tapetum lucidum in tapetal fundus, medium-sized vessel layer, (MSVL), large vessel layer with lamina suprachoroidea and (LVLS) whole choroidal thickness (WCT) were taken manually with the use of the caliper function integrated with the SD-OCT software. The measurements were performed dorsally (D) and ventrally (V) at a distance of 5000-6000 μm, and temporally (T) and nasally (N) at a distance of 4000-7000 μm from the optic disc with enhanced depth scans. The measurements were conducted temporally and nasally both in the tapetal (TempT, Nast) and nontapetal (TempNT, NasNT) fundus. Statistical analysis was performed using Statistica 10 software (Mann Whitney U Test). In all dogs affected by retinal atrophy (RA) with PRA symptoms, a statistically significant (p≤0,05) reduction in thickness of MSVL was observed in all the measured regions. A statistically significant reduction in thickness of LVLS and WCT was found in all nontapetal areas (p≤0,05). RA in mixed breed dogs with PRA symptoms was accompanied by choroid disorders such as reduction in thickness of the large vessel layer and decreased whole choroidal thickness in the nontapetal fundus as well as the medium vessel layer in all fundus regions.

Optic Disc Drusen in Pseudoxanthoma Elasticum Are Associated with the Extent of Bruch's Membrane Calcification.

Background/Objectives: To assess the frequency, extent, localization and potential progression of optic disc drusen (ODD) and the correlation with the angioid streak (AS) length and retinal atrophy in patients with pseudoxanthoma elasticum (PXE). Methods: This retrospective study included patient data from a dedicated PXE clinic at the Department of Ophthalmology, University of Bonn, Germany (observation period from February 2008 to July 2023). Two readers evaluated the presence, localization, and the extent of the ODD on fundus autofluorescence (FAF) imaging at baseline and the follow-up assessments. Additionally, we measured the length of the longest AS visible at baseline and follow-up and the area of atrophy at baseline, both on FAF. Results: A total of 150 eyes of 75 PXE patients (median age at baseline 51.8 years, IRQ 46.3; 57.5 years, 49 female) underwent retrospective analysis. At baseline, 23 of 75 patients exhibited ODD in a minimum of one eye, resulting in an ODD prevalence of 30.7% in our cohort of PXE patients. Among these, 14 patients showed monocular and 9 binocular ODD that were localized predominantly nasally (46.9%). During the observational period (mean 97.5 ± 44.7 months), only one patient developed de novo ODD in one eye and one other patient showed a progression in the size of the existing ODD. The group of patients with ODD had significantly longer ASs (median 7020 µm, IQR 4604; 9183, vs. AS length without ODD: median 4404 µm, IQR 3512; 5965, p < 0.001). No association with the size of the atrophy was found at baseline (p = 0.27). Conclusions: This study demonstrates a prevalence of ODD of 30.7%. ODD presence is associated with longer ASs (an indicator of the severity and extent of ocular Bruch's membrane calcification), suggesting that ODD formation is tightly related to ectopic calcification-possibly secondary to calcification of the lamina cribrosa. Prospective studies investigating the impact of ODD (in conjunction with intraocular pressure) on visual function in PXE warrant consideration.