Macular telangiectasia type 2 in a patient with Down syndrome: A possible association.

Purpose: Down syndrome (DS) is one of the most prevalent genetic diseases associated with a variety of ophthalmic disorders, including reported retinal abnormalities. Macular telangiectasia type 2 (MacTel 2) is a late-onset neurodegenerative retinal disease with a substantial genetic component. We hereby describe a case of a female with DS who presented with MacTel 2, and we discuss the possible pathways associating both entities. Observation: We report the case of a 49-year-old female with a medical history of DS and hydroxychloroquine (HCQ) intake. She was referred for HCQ retinal toxicity screening. The multimodal imaging revealed a temporal perifoveal gray area with crystal deposits on multicolor fundoscopy with parafoveal outer retinal atrophy and ellipsoid zone loss with inner retinal cavitations in both eyes on the optical Coherence Tomography (OCT) B scan. The corresponding swept-source OCT angiography confirmed the presence of bilateral macular telangiectasia. Conclusion and importance: Metabolic pathways including serine/glycine and sphingolipids are incriminated in both entities' pathogenesis suggesting a possible association, hence, the importance of raising awareness of this association. More cases are likely to be found since DS patients currently have a nearly normal lifespan. Additional retinal examination of DS adults is then necessary to look for signs of MacTel 2.

The "triple-layer sign": an optical coherence tomography signature for the detection of non-exudative macular neovascularization.

PURPOSE: To assess the sensitivity and specificity of the "triple layer sign" (TLS) (retinal pigment epithelium (RPE), neovascular tissue, and Bruch's membrane) on structural optical coherence tomography (OCT) images for the diagnosis of treatment-naïve non-exudative type-1 macular neovascularization (NE-MNV) in age-related macular degeneration (AMD). DESIGN: Cross-sectional study. METHODS: Two masked retinal experts evaluated the presence of the TLS in eyes with NE-MNV and controls with an RPE elevation without exudation due to other causes than NE-MNV in AMD [e.g., medium-large drusen, cuticular drusen, basal laminar deposits (BlamD)]. RESULTS: 130 eyes of 98 consecutive patients met the study criteria; 40 eyes of 40 patients satisfied the criteria for being included in the NE-MNV secondary to AMD group (27 females, 13 males, with a mean age of 73.8 ± 8.0 years), and 90 eyes of 58 patients met the criteria to be included in the control group (31 eyes were included in the medium-to-large drusen sub-group, 32 eyes in the cuticular drusen sub-group, and 27 eyes in the BlamD group. The TLS was observed in 39/40 patients with NE-MNV and 8/90 controls. The sensitivity and specificity of the TLS for the diagnosis of NE-MNV were 97% and 91%, respectively. CONCLUSIONS: The TLS on OCT demonstrated high sensitivity and specificity values in detecting treatment-naive type 1 NE-MNV.

LeptoVitelliform Maculopathy: delineating a distinct clinical entity from acquired vitelliform lesions.

OBJECTIVES: To characterize acquired vitelliform lesions associated with leptochoroid (i.e., diffuse choroidal thinning) and reticular pseudodrusen (RPD) and compare this phenotype to the acquired vitelliform lesion (AVL) in the dystrophic spectrum. METHODS: This retrospective, observational case-control study enrolled 56 patients (56 eyes) affected by vitelliform lesions (AVL), including 27 patients with AVL associated with RPD and leptochoroid (i.e., choroidal thinning) referred to as LeptoVitelliform Maculopathy (LVM), and 29 AVL patients without other funduscopic abnormalities. The main structural features analysed were the integrity of the external limiting membrane (ELM), ellipsoid zone (EZ), and retinal pigment epithelium (RPE), the presence of hyporeflective spaces, and hypertransmission. Choroidal vascular index (CVI) was calculated using ImageJ software. RESULTS: Patients with LVM were 6.69 years older and presented smaller vitelliform lesions considering both vertical (P < 0.001) and horizontal diameters (P < 0.001) with a similar visual impairment compared to the AVL group (P = 0.27). The LVM subgroup showed a greater alteration of the ELM (p < 0.001) and choroidal hypertransmission (i = 0.007), accompanied by less frequent RPE bumps (P = 0.001) and hyporeflective spaces within the vitelliform material (P = 0.002). Furthermore, the LVM group presented a lower CVI with a significant attenuation on both the luminal and stromal compartments compared to AVL (P < 0.001, both). CONCLUSIONS: The phenotypic combination of subretinal vitelliform lesion and RPD may delineate a distinct phenotype that shares with AVL only the presence of vitelliform material and a similar visual deterioration. The presented findings of LVM highlight significant structural and microvascular alterations that may hold prognostic relevance, warranting future longitudinal studies.

Vitelliform Lesions Associated with Leptochoroid and Pseudodrusen.

OBJECTIVE: To characterize clinical and prognostic implications of leptovitelliform maculopathy (LVM), a distinctive phenotype of vitelliform lesion characterized by the coexistence of subretinal drusenoid deposits (SDDs) and leptochoroid. DESIGN: Retrospective, cohort study. SUBJECTS: The study compared patients affected by LVM with cohorts displaying a similar phenotypic spectrum. This included patients with acquired vitelliform lesions (AVLs) and those with SDDs alone. METHODS: A total of 60 eyes of 60 patients were included, of which 20 eyes had LVM, 20 eyes had AVLs, and the remaining had SDDs. Patients >50 years of age with complete medical records and multimodal imaging for ≥6 months of follow-up, including color fundus photography or MultiColor imaging, OCT, fundus autofluorescence, and OCT angiography were included. MAIN OUTCOME MEASURES: Choroidal vascularity index (CVI); proportion of late-stage complications (macular neovascularization, atrophy). RESULTS: The AVL subgroup exhibited a significantly higher CVI compared with both LVM (P = 0.001) and SDD subgroups (P < 0.001). The proportion of late-stage complications significantly differed among subgroups (chi-square = 7.5, P = 0.02). Eyes with LVM presented the greatest proportion of complications (55%) after a mean of 29.3 months, whereas the remaining eyes presented a similar proportion of complications, including 20% in the AVL group after 27.6 months and 20% in the SDD group after 36.9 months. Kaplan-Meier estimates of survival demonstrated a significant difference in atrophy development between groups (P < 0.001), with a median survival of 3.9 years for the LVM group and 7.1 years for controls. The presence of LVM correlated with a fourfold increase in the likelihood of developing complications. CONCLUSIONS: Leptovitelliform maculopathy, characterized by the association of vitelliform lesions with SDDs and leptochoroid, represents a distinct clinical phenotype in the broader spectrum of vitelliform lesions. The importance of a clinical distinction for these lesions is crucial due to their higher propensity for faster progression and elevated rate of complications, particularly atrophic conversion. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

Deep Learning for prediction of late recurrence of retinal detachment using preoperative and postoperative ultra-wide field imaging.

PURPOSE: To elaborate a deep learning (DL) model for automatic prediction of late recurrence (LR) of rhegmatogenous retinal detachment (RRD) using pseudocolor and fundus autofluorescence (AF) ultra-wide field (UWF) images obtained preoperatively and postoperatively. MATERIALS AND METHODS: We retrospectively included patients >18 years who underwent either scleral buckling (SB) or pars plana vitrectomy (PPV) for primary or recurrent RRD with a post-operative follow-up >2 years. Records of RRD recurrence between 6 weeks and 2 years after surgery served as a ground truth for the training of the deep learning (DL) models. Four separate DL models were trained to predict LR within the 2 postoperative years (binary outputs) using, respectively, UWF preoperative and postoperative pseudocolor images and UWF preoperative and postoperative AF images. RESULTS: A total of 412 eyes were included in the study (332 eyes treated with PPV and 80 eyes with SB). The mean follow-up was 4.0 ± 2.1 years. The DL models based on preoperative and postoperative pseudocolor UWF imaging predicted recurrence with 85.6% (sensitivity 86.7%, specificity 85.4%) and 90.2% accuracy (sensitivity 87.0%, specificity 90.8%) in PPV-treated eyes, and 87.0% (sensitivity 86.7%, specificity 87.0%) and 91.1% (sensitivity 88.2%, specificity 91.9%) in SB-treated eyes, respectively. The DL models using preoperative and postoperative AF-UWF imaging predicted recurrence with 87.6% (sensitivity 84.0% and specificity 88.3%) and 91.0% (sensitivity 88.9%, specificity 91.5%) accuracy in PPV eyes, and 86.5% (sensitivity 87.5%; specificity 86.2%) and 90.6% (sensitivity 90.0%, specificity 90.7%) in SB eyes, respectively. Among the risk factors detected with visualisation methods, potential novel ones were extensive laser retinopexy and asymmetric staphyloma. CONCLUSIONS: DL can accurately predict the LR of RRD based on UWF images (especially postoperative ones), which can help refine follow-up strategies. Saliency maps might provide further insight into the dynamics of RRD recurrence.

Hemorrhagic unilateral retinopathy: a report of multimodal imaging in three cases.

PURPOSE: To report three cases of hemorrhagic unilateral retinopathy, diagnosed by multimodal imaging. METHODS: Case report of 3 patients, 2 women and one man, aged 51, 74, and 52, respectively. RESULTS: Symptoms were acute floaters, blurred vision, or central scotoma, unilateral in all cases. The best-corrected visual acuity was 20/20 in the affected eye in 2 patients with a paracentral scotoma, and 20/160 in the third patient. Funduscopic examination revealed multiple unilateral posterior hemorrhages located in the Henle fiber layer in the macula and beneath the internal limiting membrane around the optic disc on spectral-domain optical coherence tomography (SD-OCT). Fluorescein angiography and indocyanine green angiography (ICGA) did not show any vascular abnormalities. SD-OCT angiography (SD-OCT-A) did not show any capillary drop-out or choroidal abnormalities. In all patients, the visual symptoms completely disappeared within a few weeks, with spontaneous regression of the hemorrhages. CONCLUSION: Hemorrhagic unilateral retinopathy is a rarely reported and poorly understood disorder. ICGA and SD-OCT-A did not allow better understanding the condition. No etiology has been associated with this entity so far. The spontaneous resolution of the present cases confirmed the favorable visual prognosis of the condition.

The impact of short-term postoperative face-up position on unintentional retinal displacement after pars plana vitrectomy for rhegmatogenous retinal detachment.

OBJECTIVE: To assess the effectiveness and safety of a rigorous short-term supine position in preventing inadvertent retinal displacement after pars plana vitrectomy (PPV) with gas tamponade for rhegmatogenous retinal detachment (RRD). METHODS: We conducted a retrospective observational analysis of a case series at two ophthalmological surgical centers. We included eyes diagnosed with macula-off RRD that maintained a strict face-up position for three hours immediately after PPV with intraoperative perfluorocarbon liquid (PFCL) and 20% sulfur hexafluoride (SF6) tamponade. Fundus autofluorescence (FAF) imaging was performed at one month post-operatively to identify unintentional retinal displacement through the detection of retinal vessel prints (RVPs) on FAF imaging using an ultrawide-field (UWF) imaging system. RESULTS: A total of 29 eyes with macula-off RRD were included in the study. The average age of the participants was 59.62 years. RRD involved one quadrant in two eyes, two quadrants in fourteen eyes, three quadrants in seven eyes, and four quadrants in six eyes. UWF-FAF imaging at one month follow-up after complete reattachment of the retina revealed RVPs in seven out of the 29 eyes (24.13%), with a mean displacement of 0.22 mm. In every case the displacement occurred downward. CONCLUSION: Our results suggest that adhering to a strict face-up position for three hours after PPV with PFCL and gas tamponade for macula-off RRD may lead to a low frequency and severity of inadvertent post-operative retinal displacement.

Retro-mode imaging in acute posterior multifocal placoid pigment epitheliopathy.

AIM: to provide a detailed description and multimodal imaging (MMI) including retro-mode imaging of acute posterior multifocal placoid pigment epitheliopathy (APMPPE). METHODS: Case report of a young male patient presenting with APMPPE picture. Initially, visual acuity testing was performed, followed by biomicroscopic and fundus examinations along with MMI including Optical Coherence Tomography (OCT), fundus autofluorescence (FAF), fluorescein angiography (FA), Indocyanine Green (ICG) angiography, and Retro-mode imaging. The patient was then monitored over a duration of two months. RESULTS: visual acuity was 20/20 with normal biomicroscopic examination; fundus examination detected multiple pale placoid lesions. MMI was consistent with typical APMPPE. Notably, Retro-mode imaging revealed numerous crater-like round lesions that corresponded to those observed on angiography. CONCLUSION: Retromode imaging in APMPPE can serve as a non-invasive tool that highlights the number and distribution of lesions as well as on angiography.

Rationale and Design of VOYAGER: Long-term Outcomes of Faricimab and Port Delivery System with Ranibizumab for Neovascular Age-Related Macular Degeneration and Diabetic Macular Edema in Clinical Practice.

Purpose: To describe the rationale and design of the VOYAGER (NCT05476926) study, which aims to investigate the safety and effectiveness of faricimab and the Port Delivery System with ranibizumab (PDS) for neovascular age-related macular degeneration (nAMD) or diabetic macular edema (DME) in clinical practice. VOYAGER also aims to understand drivers of clinical practice treatment outcomes by gaining novel insight into the intersection of treatment regimens, decisions, anatomic outcomes, and vision. Design: Primary data collection, noninterventional, prospective, multinational, multicenter clinical practice study. Participants: At least 5000 patients initiating/continuing faricimab or PDS for nAMD/DME (500 sites, 31 countries). Methods: Management will be per usual care, with no mandated scheduled visits/imaging protocol requirements. Using robust methodologies, relevant clinical and ophthalmic data, including visual acuity (VA), and data on treatment clinical setting/regimens/philosophies, presence of anatomic features, and safety events will be collected. Routinely collected fundus images will be uploaded to the proprietary Imaging Platform for analysis. An innovative investigator interface will graphically display the patient treatment journey with the aim of optimizing treatment decisions. Main Outcome Measures: Primary end point: VA change from baseline at 12 months per study cohort (faricimab in nAMD and in DME, PDS in nAMD). Secondary end points: VA change over time and per treatment regimens (fixed, treat-and-extend, pro re nata, and other) and number. Exploratory end points: VA change in relation to presence/location of anatomic features that impact vision (fluid, central subfield thickness, fibrosis, atrophy, subretinal hyperreflective material, diabetic retinopathy severity, and disorganization of retinal inner layers) and per treatment regimen/philosophies. The impact of regional and practice differences on outcomes will be assessed as will safety. Results: Recruitment commenced in November 2022 and will continue until late 2027, allowing for up to 5 years follow-up. Exploratory interim analyses are planned annually. Conclusions: VOYAGER is an innovative study of retinal diseases that will assess the effectiveness and safety of faricimab and PDS in nAMD and DME and identify clinician- and disease-related factors driving treatment outcomes in clinical practices globally to help optimize vision outcomes. Financial Disclosures: Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

In vivo cone-photoreceptor density comparison between eyes with subretinal drusenoid deposits and healthy eyes using high magnification imaging.

PURPOSE: To compare photoreceptor density automated quantification in eyes with subretinal drusenoid deposits (SDD) and healthy controls using Heidelberg Spectralis High Magnification Module (HMM) imaging. METHODS: Twelve eyes of 6 patients with intermediate AMD, presenting with SDD were included, as well as twelve eyes of healthy controls. Individual dot SDD within the central 30° retina were examined with infrared confocal laser ophthalmoscopy, HMM, and spectral-domain optical coherence tomography (SD-OCT). Photoreceptor density analysis was performed on the best-quality image using the ImageJ Foci Picker plugin, after the removal of SDD from the HMM image. Correlations were made between the HMM quantified photoreceptor density, SD-OCT characteristics, stage, and number of SDD. RESULTS: Mean age was 75.17 ± 2.51 years in the SDD group (3 males, 3 females) versus 73.17 ± 3.15 years in the healthy control group (p = 0.2). Defects in the overlying ellipsoid zone were present on SD-OCT in 8/12 (66.66%) eyes. The mean ± standard deviation foci detected (i.e., cone photoreceptors) was 7123.75 ± 3683.32 foci/mm2 in the SDD group versus 13,253 ± 3331.00 foci/mm2 in the healthy control group (p = 0.0003). The number of SDD was associated with a reduction in foci density, p = 0.0055, r = - 0.7622. CONCLUSION: The decreased cone density in eyes with SDD may correlate with a decrease in retinal function in intermediate AMD eyes independent of neovascular complications or outer retinal pigment epithelial atrophy.

NONEXUDATIVE INTRARETINAL FLUID IN INTERMEDIATE AGE-RELATED MACULAR DEGENERATION.

BACKGROUND: To describe the occurrence of nonexudative intraretinal fluid (IRF) in intermediate age-related macular degeneration. METHODS: A retrospective study was designed to include consecutive cases with intermediate age-related macular degeneration associated with IRF. A multimodal imaging approach was used to confirm diagnosis of IRF in intermediate age-related macular degeneration. Multimodal imaging included color fundus photograph, fundus autofluorescence, fluorescein angiography, indocyanine green angiography, optical coherence tomography, and optical coherence tomography angiography. RESULTS: Ten eyes of 10 patients (2 male and 8 female patients, ages 68-80 years) showing IRF in intermediate age-related macular degeneration were included in the study. The mean best-corrected visual acuity was 20/40 Snellen equivalent. Multimodal imaging including fluorescein angiography/indocyanine green angiography and optical coherence tomography demonstrated the absence of macular neovascularization in all cases; optical coherence tomography-angiography did not detect any abnormal flow signal associated with IRF. Seven of 10 patients developed IRF in correspondence of pigment epithelium detachment. Three of 10 patients presented IRF in correspondence of an area of nascent geographic atrophy. CONCLUSION: Nonexudative intraretinal fluid in intermediate age-related macular degeneration is a novel, distinctive feature that is characterized by the presence of IRF with no evidence of macular neovascular lesions. The authors described different phenotypes of IRF in intermediate age-related macular degeneration. The definite diagnosis of this condition requires further studies with thorough application of multimodal imaging.

Phenomenology of spontaneous closure in degenerative and mixed type lamellar macular hole.

PURPOSE: To the describe OCT imaging characteristics of a cohort of patients showing spontaneously closing degenerative or mixed type lamellar macular holes (LMH) and to compare them to the ones of a sex and age matched group showing stable lesions. METHODS: Patients diagnosed with degenerative and mixed type LMHs showing OCT-documented spontaneous anatomical closure were retrospectively selected from 3 specialized retina centres. An equal number of age and sex matching subjects were randomly selected among patients with anatomically stable lesions. RESULTS: Eleven (11) spontaneously closing (SC group) and 11 stable (ST group) degenerative LMH with a mean follow up of 4 years were recruited. Hyperreflective inner border (HIB) and linear hyperreflectivity in the outer plexiform layer (LHOP) at baseline were significantly more prevalent in SC group in processed images (respectively p = 0.007 and p = 0.003). A borderline significance in lamellar hole associated epiretinal proliferation (LHEP) at last follow up was detected (p = 0.085). As for mixed type LMH, 10 patients for SC group and 10 for ST group were recruited. LHOP at baseline in processed images was significantly more prevalent in SC group (p = 0.005). CONCLUSIONS: Spontaneously closing LMHs show higher prevalence of HIB and LHOP at the beginning of the closing process, a difference which is enhanced by image processing. These signs might be a signal of microglial and Muller cells coordinated activation.

Refractive outcome in combined phacovitrectomy: Anterior segment changes and corrective factor for IOL power calculation improvement.

PURPOSE: To analyze differences in refractive outcome Δ (difference between postoperative and expected refractive error) and in anterior segment changes between cataract surgery patients and combined phacovitrectomy patients. We also aimed to provide a corrective formula allowing to minimise the refractive outcome Δ in combined surgery patients. METHODS: Candidates for phacoemulsification and combined phacovitrectomy (respectively PHACO and COMBINED groups) were prospectively enrolled in two specialised centres. Patients underwent best corrected visual acuity (BCVA) assessment, ultra-high speed anterior segment optical coherence tomography (OCT), gonioscopy, retinal OCT, slit lamp examination and biometry at baseline, 6 weeks postoperatively and 3 months postoperatively. RESULTS: No differences in refractive Δ, refractive error and anterior segment parameters were noted between PHACO and COMBINED group (109 and 110 patients respectively) at 6 weeks. At 3 months, COMBINED group showed a spherical equivalent of -0.29 ± 0.10 D versus -0.03 ± 0.15 D in PHACO group (p = 0.023). COMBINED group showed a significantly higher Crystalline Lens Rise (CLR), angle-to-angle (ATA) and anterior chamber width (ACW) and a significantly lower anterior chamber depth (ACD) and refractive Δ with all 4 considered formulas at 3 months. For IOL power lower than 15, a hyperopic shift was observed instead. CONCLUSIONS: Anterior segment OCT suggests anterior displacement of the effective lens position in patients undergoing phacovitrectomy. A corrective formula can be applied to IOL power calculation to minimize undesired refractive error.

Fundus autofluorescence of retinal atrophy progression between fundus flavimaculatus and extensive macular atrophy with pseudo-drusen.

OBJECTIVE: To analyze the progression of macular atrophy in Fundus Flavimaculatus (FFM) versus Extensive Macular Atrophy with Pseudo-drusen (EMAP), using Spectralis® RegionFinder™ tool. METHODS: Retrospective review of patients diagnosed with FFM and EMAP. Ophthalmic imaging features were reviewed by retina specialists for each patient in both eyes. The atrophic zones were measured on fundus autofluorescence acquisitions using the RegionFinder™ tool. RESULTS: FFM group included 16 eyes of 8 patients, whose mean age was 61.42 ± 10.76 years, with a mean 4.54 ± 2.73 years of follow-up. EMAP group contained 16 eyes of 8 patients, whose mean age was 67.81 ± 3.03 years (p = 0.12), with a mean 3.62 ± 2.49 years of follow-up (P = 0.63). The atrophy progression rates were 3.73 ± 6.75 and 0.70 ± 0.98 mm2/year, for EMAP and FFM respectively. The yearly rate of progression of the atrophic areas in EMAP was 5.3 times higher than in FFM (mm2/year) (p = 0.03). CONCLUSION: The progression of the atrophy in eyes with Extensive Macular Atrophy with Pseudo-drusen (EMAP) is significantly more rapid than in eyes with Fundus Flavimaculatus (FFM).

Multimodal imaging in early onset non-neovascular pigment epithelial detachments.

PURPOSE: To describe multimodal imaging of two cases of bilateral non-vascularized pigment epithelial detachments (PED) in young patients with a long-term follow-up. METHODS: A complete ophthalmological examination was performed at each follow-up visit including best corrected visual acuity (BCVA), intraocular pressure, slit lamp examination, spectral domain optical coherence tomography (SD-OCT), fluorescein and indocyanine green angiography, OCT angiography. RESULTS: Multimodal imaging of two women presenting avascular PED, aged 43 and 57, respectively, was described. In both patients, SD-OCT revealed a high central macular hyporeflective elevation corresponding with PED. Both patients showed a choroidal layer thicker than 420 µm. Fluorescein and indocyanine green angiography didn't show any choroidal neovascularization either at early or late frames. Cross-sectional and en face optical coherence tomography angiography (OCTA) didn't show any flow beneath the PED. During the follow up period one eye showed a retinal pigment epithelium tear and all eyes showed the presence of apical sub-retinal fluid and hyperreflective material on the top of the PED. None of the two patients showed any sign of atrophy during the follow-up period. CONCLUSION: The peculiar characteristics of the presented cases suggest that specific pathogenetic mechanisms, not necessarily related to age related macular degeneration, may play a key role in the development of these lesions. Whether early onset of such drusenoid PED is a specific entity resulting from a genetic deficit of lipid transporters in the RPE is unknown. Further genetic and metabolic studies should be conducted.

Peripapillary hyperreflective ovoid mass-like structures and the retinal nerve fiber layer thinning.

AIM: We describe a report of three cases of bilateral Peripapillary Hyperreflective Ovoid Mass-Like Structures (PHOMS), their respective multimodal imaging, and retinal nerve fiber layer (RNFL) analysis over time. METHODS: We performed an elaborated multimodal imaging of three pediatric patients with PHOMS. We performed a visual acuity testing, followed by a biomicroscopic and fundus examination, an additional Optical Coherence Tomography (OCT), fundus autofluorescence (FAF), infra-red (IR), fluorescein angiography (FA), Scanning laser Ophtalmoscopy (SLO), and retro-mode imaging. Furthermore, we analyzed RNFL thickness over several consecutive visits. RESULTS: The multimodal approach exhibited similar characteristics of PHOMS in all eyes, namely a torus-like shaped that was particularly demarcated and well visualized using SLO and retro-mode tool. In all the eyes, we found a downward trend of the RNFL over time. In both the right and left eye, RNFL at presentation averaged at 152.33 ± 25.42 and 130 ± 18.33 microns, respectively. Several weeks after, it averaged at 142 ± 30.34 and 125.67 ± 14.84 microns, respectively. CONCLUSIONS: Our report shows a thinning trend of the RNFL thickness over time in patients with PHOMS.

An incipient late-onset retinal degeneration with a C1QTNF5 mutation: a case report with an 11-year follow-up.

PURPOSE: The purpose of this study was to describe and diagnose the difficulty in a long-term follow-up (eleven years) patient with a very early presentation of late-onset retinal degeneration (L-ORD) and the significance of electrophysiological examinations and follow-up in assessing undiagnosed inherited retinal diseases. METHODS: This is an observational case report of a 56-year-old woman, with scattered multiple yellow-white retinal dots firstly diagnosed as fundus albipunctatus. Ten years after presentation, a deterioration in rod and cone responses in ff-ERG was detected, which allowed us to discard the first diagnostic hypothesis and proceed with a genetic testing. RESULTS: Ten years after presentation, she presented a clear progression of the abnormal photoreceptor response with a cone and rod involvement in ff-ERG, which was not compatible with the previous suspicion of fundus albipunctatus. Six months later, genetic testing results together with the typical progression of atrophic patchy lesions in multimodal imaging allowed a certain diagnosis of L-ORD, caused by an already reported pathogenic variant in the C1QTNF5 gene (c.563C > T; p. Pro188 Leu). CONCLUSIONS: We demonstrate the importance of the ff-ERG examination and the follow-up (or ERG and imaging repetition) in the differential diagnosis of an incipient L-ORD, which can be easily misdiagnosed in the early stages, before the appearance of the characteristic chorioretinal atrophy seen with the progression of this rare disease.

The Impact of Diabetic Retinopathy on the Choriocapillaris in Neovascular AMD.

Purpose: To investigate the impact of diabetic retinopathy (DR) on morphological choriocapillaris (CC) modifications in eyes with type 1 macular neovascularization (MNV) secondary to AMD using optical coherence tomography angiography (OCTA). Methods: Eyes with AMD-related type 1 MNV with and without DR were prospectively included. We performed 3 × 3 mm OCTA scans at two visits: before the loading phase of intravitreal injections of aflibercept (T1) and 1 month after the last injection (T2). OCTA En face flow images of the CC were analyzed for flow deficit percentage (FD%), FD average area and FD number in a 500-µm-wide ring surrounding the dark halo (DH) around type 1 MNV. Results: A total of 65 eyes, out of which 30 eyes had mild DR, were included. In the group without diabetes, there was a gradual reduction in FD% in the CC ring around the DH after antiangiogenic therapy, indicating reperfusion of the CC (P = 0.003). However, in the DR group, there were no significant changes in CC parameters between the two study visits. Specifically, the FD% in the CC ring around the DH did not show a significant reduction at T2 compared with T1 values (P > 0.05). Furthermore, the comparison of the variation in FD% between the two groups was statistically significant. The nondiabetic group exhibited a gradual CC reperfusion after the loading phase of aflibercept, whereas the diabetic eyes did not show significant changes (P = 0.029). Conclusions: The CC surrounding the DH associated to type 1 MNV exhibited greater hypoperfusion in diabetic eyes compared with eyes without diabetes, both before starting therapy and after the loading phase. Hence, DR may be a potential risk factor in the development and progression of late-stage AMD and may also influence the response to antiangiogenic therapy.