FROM OUTER RETINAL NEOVACULARIZATION TO EXUDATIVE SUBRETINAL NEOVASCULARIZATION IN MACULAR TELANGIECTASIA TYPE 2.

PURPOSE: To describe the progression from outer retinal neovascularization (ORNV) to exudative subretinal new vessels (SRNVs) in idiopathic macular telangiectasia type 2. METHODS: A total of 135 patients (270 eyes) imaged with optical coherence tomography angiography were included. MAIN OUTCOME MEASURES: Ellipsoid zone loss, outer retinal hyperreflectivity, ORNV, and SRNVs. Outer retinal neovascularization was defined as a flow signal passing through the outer plexiform layer, with or without vertical linear outer retinal hyperreflectivity on the optical coherence tomography B-scan. Subretinal new vessels were defined as an abnormal capillary network with a peripheral anastomotic arcade seen on en face optical coherence tomography angiography and a convex hyperreflectivity at the retinal pigment epithelium. RESULTS: Subretinal new vessels were observed in 38/270 eyes (14%). Subretinal new vessels were at a fibrotic stage in 24/38 eyes and at an exudative stage in 6/38 eyes, and a progression from ORNV to SRNVs was documented in 8/38 eyes. All cases showed an ellipsoid zone loss. In seven eyes (2.5%), SRNVs were also associated with subepithelial neovascularization. No retinochoroidal anastomosis was detected. The visual acuity dropped when SRNVs were present. CONCLUSION: In this case series, SRNVs were found in 14% of eyes. In all cases, they were associated with an ellipsoid zone loss and with outer retinal hyperreflectivity. A progression from ORNV to SRNVs was observed.

Early remodeling and loss of light-induced dilation of retinal small arteries in CADASIL.

A major hurdle to therapeutic development in cerebral small vessel diseases is the lack of in-vivo method that can be used repeatedly for evaluating directly cerebral microvessels. We hypothesised that Adaptive Optics (AO), which allows resolution images up to 1-2 µm/pixel at retinal level, could provide a biomarker for monitoring vascular changes in CADASIL, a genetic form of such condition. In 98 patients and 35 healthy individuals, the wall to lumen ratio (WLR), outer and inner diameter, wall thickness and wall cross-sectional area were measured in a parapapillary and/or paramacular retinal artery. The ratio of vessel diameters before and after light flicker stimulations was also calculated to measure vasoreactivity (VR). Multivariate mixed-model analysis showed that WLR was increased and associated with a larger wall thickness and smaller internal diameter of retinal arteries in patients. The difference was maximal at the youngest age and gradually reduced with aging. Average VR in patients was less than half of that of controls since the youngest age. Any robust association was found with clinical or imaging manifestations of the disease. Thus, AO enables the detection of early functional or structural vascular alterations in CADASIL but with no obvious link to the clinical or imaging severity.

Retinal vascular density in CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy).

Background and objective: Retinal vascular density (VD) measured using optical coherence tomography with angiography (OCTA) has been suggested as a potential marker of intracerebral vascular changes in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL). We aimed to determine whether VD is related to the clinical and imaging manifestations of the disease. Methods: OCTA was performed in 104 CADASIL patients (parallel to their clinical and imaging assessment) and in 83 healthy individuals. Results: A significant reduction of VD related to age was detected in patients and controls in the superficial and deep vascular plexus of the whole foveal or parafoveal retinal area (p<0.0001). After adjustment for age, these parameters were found significantly lower in patients than in controls (p<0.03). Multivariable analysis did not show any association between retinal VD and history of stroke, modified Rankin Scale or Mini-Mental Status Examination scores. No significant association was found with MRI lesions either. Conclusion: In CADASIL, retinal VD is decreased early and progresses with ageing but does not appear related to the severity of clinical or imaging manifestations.

ABNORMALITIES IN THE RETINAL CAPILLARY PLEXUSES IN COATS DISEASE IN ADULTHOOD ON OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY.

PURPOSE: To describe and quantify the abnormalities of the retinal capillary plexuses using optical coherence tomography angiography in Coats disease. METHODS: Retrospective study. Eleven eyes of 11 patients with Coats disease (9 men and two women aged 32-80 years) compared with nine fellow eyes and 11 healthy control eyes. Horizontal bands of contiguous 3 × 3 mm optical coherence tomography angiograms of the superficial vascular plexus and deep capillary complex were acquired from the optic disk to 6 mm temporal to the fovea, through areas with telangiectasia visible on fluorescein angiography in 9 cases. RESULTS: The vascular density was significantly decreased in both plexuses in eyes with Coats disease compared with normal and fellow eyes within the 6 mm temporal to the fovea (superficial vascular plexus: 21.5 vs. 29.4%, P = 0.00004 and vs. 30.3%, P = 0.00008; deep capillary complex, 16.5 vs. 23.9%, P = 0.00004 and vs. 24.7%, P = 0.00008, respectively). The fractal dimension was also significantly decreased in eyes with Coats disease (superficial vascular plexus: 1.796 vs. 1.848 P = 0.001 and vs. 1.833, P = 0.003; deep capillary complex: 1.762 vs. 1.853, P = 0.003 and vs. 1.838, P = 0.004, respectively). CONCLUSION: Retinal plexuses' vascular density was decreased in Coats disease, including in areas with no visible telangiectasia.

Minors at risk of von Hippel-Lindau disease: 10 years' experience of predictive genetic testing and follow-up adherence.

Von Hippel-Lindau (VHL) disease is one of the most common cancer predisposition syndromes. Penetrance is high with around 20% of children presenting detectable and curable manifestations of the disease at 15 years old. VHL predictive genetic testing (PGT) is recommended during childhood from age 5 years in France. Insufficient compliance to surveillance of VHL pathogenic variant (PV) carriers is associated with severe outcome. PGT experienced by children and their parents is probably critical in influencing future acceptance of the result and adherence to surveillance. We conducted a retrospective study on minors tested (aged 5 to 16 years old) from 2010 to 2020, in a multidisciplinary oncogenetics consultation which follows a 3-step protocol based on psychological familial support. The objectives were to assess the adherence to follow-up within the National Expert Center for inherited predispositions to renal tumors (PREDIR) network of VHL PV carriers and its benefit through tumor detection and medical interventions. A VHL PGT was carried out in 34 children. Among the 16 children diagnosed as VHL PV carriers addressed to the PREDIR network, none had discontinued surveillance after a median of 41 months. Follow-up examinations detected 11 tumors in 6 children, 4 have been surgically treated. All had a favorable outcome. Our data suggest that a specific and adapted procedure for PGT in at-risk VHL children as well as a follow-up, organized within a specialized expert network, fosters a complete adherence to the surveillance protocol and thus lead to a favorable clinical outcome.

OCT of Outer Retinal Hyperreflectivity, Neovascularization, and Pigment in Macular Telangiectasia Type 2.

PURPOSE: To investigate whether outer retina hyperreflectivity (ORHR) and outer retina neovascularization (ORNV) are visible in eyes with macular telangiectasia type 2 (MacTel 2) before pigment proliferation is visible. DESIGN: Retrospective study in a cohort of patients from the MacTel Project. PARTICIPANTS: Thirty-nine MacTel 2 eyes without pigment on color fundus photography (CFP) at presentation were studied over a mean of 36.6 months (range, 13.8-50.4 months; standard deviation, ±10 months). METHODS: All patients routinely underwent Snellen best-corrected visual acuity (VA) measurement, CFP, spectral-domain OCT, and OCT angiography (OCTA). MAIN OUTCOME MEASURES: Pigment in the macula on CFP, best-corrected VA, presence of ORHR, presence of ORNV, presence and surface of ellipsoid zone (EZ) loss, and occurrence of ORHR, ORNV, and pigment. RESULTS: At presentation, 13 eyes showed no EZ loss, and no ORHR nor change was observed during the follow-up. In the 19 eyes with only EZ loss at baseline, ORHR appeared in 6 eyes, and one of them also showed visible pigment on CFP. Among the 7 eyes with ORHR and ORNV at baseline, pigment proliferation became visible in 4 eyes. Overall, at the end of follow-up, 14 eyes showed ORNV and 13 showed ORHR, of which 5 showed pigment on CFP. In all cases, ORHR on spectral-domain OCT corresponded to ORNV on OCTA. Hyperreflectivity and neovascularization developed within an EZ loss area or at its edge. At the end of follow-up, although the EZ loss area was larger in eyes with ORHR, pigment, or both than in eyes without any pigment migration (0.33 mm2 vs. 0.94 mm2; P = 0.01), VA was similar in both groups (0.32 logarithm of the minimum angle of resolution [logMAR] vs. 0.35 logMAR; Snellen equivalent, 20/40 vs. 20/50; P = 0.64). CONCLUSIONS: Spectral-domain OCT and OCTA showed that in MacTel 2 eyes, ORHR was associated with ORNV on OCTA and most often did not correspond to pigmentation on CFP. When ORNV developed, hyperreflectivity appeared along the abnormal capillary tracts after a mean follow-up of 36 months. In most cases, the presence of ORHR was not associated with rapid vision loss.

Relationship Between Nerve Fiber Layer Hemorrhages and Outcomes in Central Retinal Vein Occlusion.

Purpose: To evaluate the depth and pattern of retinal hemorrhage in acute central retinal vein occlusion (CRVO) and to correlate these with visual and anatomic outcomes. Methods: Retinal hemorrhages were evaluated with color fundus photography and fluorescein angiography at baseline and follow-up. Snellen visual acuity (VA), central foveal thickness (CFT), extent of retinal ischemia, and development of neovascularization were analyzed. Results: 108 eyes from 108 patients were evaluated. Mean age was 63.6 ± 16.1 years with a predilection for the right eye (73.1%). Average follow-up was 17.2 ± 19.2 months. Mean VA at baseline was 20/126 and 20/80 at final follow-up. Baseline (P = 0.005) and final VA (P = 0.02) in eyes with perivascular nerve fiber layer (NFL) hemorrhages were significantly worse than in eyes with deep hemorrhages alone. Baseline CFT was greater in the group with perivascular hemorrhages (826 ± 394 µm) compared to the group with deep hemorrhages alone (455 ± 273 µm, P < 0.001). The 10 disc areas of retinal ischemia was more common in patients with perivascular (80.0%) and peripapillary (31.3%) versus deep hemorrhages alone (16.1%, P < 0.001). Neovascularization of the iris was more common, although this differrence was not significant, in the groups with peripapillary (14.3%) and perivascular (2.0%) NFL versus deep hemorrhages alone (0.0%). Conclusions: NFL retinal hemorrhages at baseline correlate with more severe forms of CRVO, with greater macular edema, poorer visual outcomes, and greater risk of ischemia and neovascularization. This may be related to the organization of the retinal capillary plexus. The depth and pattern of distribution of retinal hemorrhages in CRVO may provide an easily identifiable early biomarker of CRVO prognosis.

MANAGEMENT OF RETINAL HEMANGIOBLASTOMA IN VON HIPPEL-LINDAU DISEASE.

PURPOSE: To review the current state of diagnosis and management of retinal hemangioblastoma and retinal vascular proliferation arising from von Hippel-Lindau (VHL) disease. METHODS: A review of the literature was performed. Consensus was reached among authors regarding current practice, with reference to published data where possible. RESULTS: von Hippel-Lindau disease and its ocular manifestations are relatively rare, and there is limited evidence in the literature on which to base management. There was consensus on core principles, including 1) recognition and diagnosis of von Hippel-Lindau disease when present, with appropriate referral for care of this potentially lethal systemic condition; 2) regular ophthalmic evaluation for individuals with von Hippel-Lindau disease, to identify and offer timely treatment for new or active retinal hemangioblastomas; 3) ablative treatment of retinal hemangioblastomas that can be safely destroyed, to lower risk of vision loss; 4) observation or consideration of nonablative treatments for retinal hemangioblastomas that cannot be safely destroyed; and 5) observation of asymptomatic retinal vascular proliferation, with consideration of vitrectomy for lesions exerting effects on vision. CONCLUSION: Ocular outcomes can be gratifying in many cases with appropriate management. Improved understanding of the molecular basis for the disease creates an opportunity for rational design of better therapies.

VON HIPPEL-LINDAU DISEASE: Update on Pathogenesis and Systemic Aspects.

PURPOSE: To provide an update summarizing the biologic pathways governing von Hippel-Lindau (VHL) disease pathogenesis and to provide an overview of systemic manifestations as well as screening recommendations. METHODS: A PubMed search of the English language literature was reviewed using the following search terms: von Hippel-Lindau, von Hippel-Lindau disease, and VHL. Of 6,696 publications, the most current and pertinent information related to the pathogenesis and systemic aspects of VHL disease were included in this review. RESULTS: von Hippel-Lindau disease is one of the most frequently occurring multisystem familial cancer syndromes. The disease results from germline mutation in the VHL tumor suppressor gene on the short arm of chromosome 3. Mutation in the VHL gene affects multiple cellular processes including transcriptional regulation, extracellular matrix formation, apoptosis, and, in particular, the cellular adaptive response to hypoxia. As a result, there is widespread development of vascular tumors affecting the retina, brain, and spine, as well as a spectrum of benign and malignant tumors and/or cysts in visceral organs. CONCLUSION: The ophthalmologist plays a key role in VHL disease diagnosis, as retinal hemangioblastoma is frequently the first disease manifestation. Screening guidelines for individuals with known VHL disease, and those at risk of VHL disease, help to ensure early detection of potentially vision-threatening and life-threatening disease.

Predictive Factors of Response to Mineralocorticoid Receptor Antagonists in Nonresolving Central Serous Chorioretinopathy.

PURPOSE: To assess the efficacy and safety of mineralocorticoid receptor antagonists (MRAs) in the treatment of nonresolving central serous chorioretinopathy (CSC) and to identify factors that are predictive of treatment response. DESIGN: Retrospective, multicenter, noncomparative, interventional case series. METHODS: Clinical and imaging data from consecutive patients with nonresolving CSC treated with eplerenone or spironolactone for 3 to 6 months between 2012 and 2016 were reviewed. Outcome measures included the resolution of foveal subretinal detachment (SRD), changes in SRD height, central macular thickness, subfoveal choroidal thickness, best corrected visual acuity, and the occurrence of adverse events assessed at 3 and 6 months. The response to treatment was defined by a decrease by >50% in SRD height under treatment. Comparisons between responder and nonresponder groups were performed using univariate and multivariate regression analyses to identify factors that were predictive of treatment response. RESULTS: Fifty-nine patients (64 eyes) were included. The mean SRD height and central macular thickness significantly decreased while the mean best corrected visual acuity significantly improved at 3 and 6 months. The mean subfoveal choroidal thickness significantly decreased at 3 months. Among the 64 eyes included, 67.2% responded to treatment, among which 38.3% and 40.5% had a complete resolution of the foveal SRD at 3 and 6 months, respectively. Baseline subfoveal choroidal thickness was the only factor associated with a treatment response in the multivariate analysis. CONCLUSION: Our study suggests that MRA could be a safe and effective treatment in patients with nonresolving CSC. MRA treatment is more effective in cases with a thicker baseline choroid.

OPTICAL COHERENCE TOMOGRAPHY, FLUORESCEIN ANGIOGRAPHY, AND DIAGNOSIS OF CHOROIDAL NEOVASCULARIZATION IN AGE-RELATED MACULAR DEGENERATION.

PURPOSE: To determine the sensitivity and specificity of different retinal imaging combinations for the diagnosis of choroidal neovascularization (CNV) in age-related macular degeneration. METHODS: Patients aged 50 years or older referred for suspicious recent-onset CNV related to age-related macular degeneration were prospectively included for 6 months. Data recorded included color fundus photographs (CFPs), spectral domain optical coherence tomography (SD-OCT), and fluorescein angiography (FA) images. Five retina specialists randomly interpreted SD-OCT combined with CFP, and then FA combined with CFP. The reference diagnosis of CNV was based on the agreement of two readers in the interpretation of the SD-OCT + FA + CFP combination. RESULTS: One hundred and forty-eight patients (148 eyes) were included. For the diagnosis of CNV, the sensitivity of both SD-OCT + CFP and FA + CFP was of 90.9%. Type 2 CNV was diagnosed in 98% to 100% of cases with SD-OCT + CFP or FA + CFP, whereas Type 1 CNV was diagnosed in 82.9% of cases with SD-OCT + CFP and 81.6% with FA + CFP. CONCLUSION: When used as a first diagnostic test, SD-OCT combined with CFP had sensitivity and specificity similar to those of FA combined with CFP, for the diagnosis of CNV in age-related macular degeneration. This shows the increasingly important role of SD-OCT as a first-line test in the diagnosis of CNV.

Optical Coherence Tomography Angiography of Familial Retinal Arteriolar Tortuosity.

BACKGROUND AND OBJECTIVE: To analyze the location of familial retinal arterial tortuosity (fRAT) in the three-dimensional structure of retinal capillaries. PATIENTS AND METHODS: Retrospective observational study. Twelve eyes of six patients (two of whom were brothers) were imaged by optical coherence tomography angiography (OCTA). The data from their ocular and systemic examinations were recorded. RESULTS: OCTA imaging clearly showed increased tortuosity of second- and third-order retinal arteries in all cases, visible in the superficial vascular plexus (SVP) up to the arteriole termination in the capillaries. No change was visible in the deep capillary plexus (DCP). CONCLUSIONS: OCTA shows that fRAT affects all the course of the arterioles up to the capillaries in the SVP. The DCP does not show arteriolar tortuosity because it does not contain arterioles. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:397-401.].

Visibility of Blood Flow on Optical Coherence Tomography Angiography in a Case of Branch Retinal Artery Occlusion.

PURPOSE: We report the variability in flow angiogram during the course of branch retinal artery occlusion (BRAO) in a case imaged by optical coherence tomography angiography (OCTA). CASE REPORT: OCTA was performed in a patient with BRAO at initial examination and 6 hours later. Initially, the occluded retinal artery and its branches were not detected on OCTA whereas a slow perfusion was present on fluorescein angiography. Six hours after initial examination, flow was detected on OCTA image in the previously occluded artery. CONCLUSION: This case confirmed the relevance of using OCTA in monitoring BRAO and showed that capillaries with a very slow flow are not visible on OCTA angiograms. It emphasizes that non-perfusion on OCTA should be interpreted with caution.

OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY OF FLAT IRREGULAR PIGMENT EPITHELIUM DETACHMENT IN CHRONIC CENTRAL SEROUS CHORIORETINOPATHY.

PURPOSE: To assess the rate of choroidal neovascularization (CNV) detected by optical coherence tomography angiography (OCTA) in flat irregular pigment epithelium detachment (PED) in chronic central serous chorioretinopathy. METHODS: Data on all consecutive patients with chronic central serous chorioretinopathy who underwent OCTA over a 1-year period were reviewed. The presence of flat irregular PED, which was defined as an irregular elevation of the retinal pigment epithelium allowing the visualization of a distinct Bruch's membrane was assessed on high-resolution OCT B-scan. Clinical, multimodal imaging, and OCTA data were reviewed by two graders for the detection of CNV. RESULTS: Eighty-eight eyes of 61 patients with chronic central serous chorioretinopathy were included. Patient mean age (±SD) was 54.5 ± 12.2 years, and 78.7% were males. Mean subfoveal choroidal thickness (±SD) was 452.6 ± 145.6 µm. Flat irregular PEDs were detected in 59 eyes of 51 patients. OCTA detected the presence of CNV in flat irregular PEDs in 35.6% of cases. Conversely, using the combination of spectral domain optical coherence tomography angiography, fluorescein and indocyanine green angiography, CNV was detected in only 25% of flat irregular PEDs. All hyporeflective flat irregular PEDs on OCT were avascular on OCTA while they were at least partially hyperreflective when associated with CNV. CONCLUSION: One-third of flat irregular PEDs in chronic central serous chorioretinopathy contained CNV. OCTA detected CNV more frequently than the other imaging modalities. Further longitudinal studies are needed to assess the indication of antivascular endothelial growth factor treatments in such cases.

Comparing Parafoveal Cone Photoreceptor Mosaic Metrics in Younger and Older Age Groups Using an Adaptive Optics Retinal Camera.

BACKGROUND AND OBJECTIVE: To analyze cone mosaic metrics on adaptive optics (AO) images as a function of retinal eccentricity in two different age groups using a commercial flood illumination AO device. PATIENTS AND METHODS: Fifty-three eyes of 28 healthy subjects divided into two age groups were imaged using an AO flood-illumination camera (rtx1; Imagine Eyes, Orsay, France). A 16° × 4° field was obtained horizontally. Cone-packing metrics were determined in five neighboring 50 µm × 50 µm regions. Both retinal (cones/mm2 and µm) and visual (cones/degrees2 and arcmin) units were computed. RESULTS: Results for cone mosaic metrics at 2°, 2.5°, 3°, 4°, and 5° eccentricity were compatible with previous AO scanning laser ophthalmoscopy and histology data. No significant difference was observed between the two age groups. CONCLUSIONS: The rtx1 camera enabled reproducible measurements of cone-packing metrics across the extrafoveal retina. These findings may contribute to the development of normative data and act as a reference for future research. [Ophthalmic Surg Lasers Imaging Retina. 2017;48:45-50.].

Laser Photocoagulation for Peripheral Retinal Capillary Hemangioblastoma in von Hippel-Lindau Disease.

PURPOSE: To study the efficacy and limits of laser photocoagulation for retinal capillary hemangioblastoma (RCH) of various sizes in von Hippel-Lindau disease. DESIGN: Retrospective study. PATIENTS: The records of 176 patients with von Hippel-Lindau were reviewed retrospectively. Seventy-four patients with 304 RCHs in 100 eyes were treated primarily with laser photocoagulation. Eyes with concomitant rhegmatogenous or tractional retinal detachment or with papillary RCH were excluded. METHODS: The treatment consisted of inactivating RCH using direct green laser photocoagulation with long-duration laser burns (0.1-0.7 seconds). MAIN OUTCOME MEASURES: The number of RCH lesions per eye, RCH size in disc diameter (DD) at diagnosis, the presence of retinal lipid exudation or subretinal fluid, and visual acuity were recorded. Final outcomes included RCH inactivation, posttreatment complications, and final visual acuity. RESULTS: Patient mean age was 28 years (range, 8-62). Mean follow-up duration after treatment was 4.5 years (range, 0.4-17.5). Median RCH size was 0.25 DD (range, 0.25-3.00). Laser alone inactivated 97% of RCHs. A mean number of 1.6 laser sessions (range, 1-8) were needed to achieve RCH inactivation. A single laser session allowed coagulating 77% of RCHs. Their median size was 0.50 DD (range, 0.25-1.50). More than 1 laser session was needed to inactivate 23% of RCHs. Their median size was 1 DD (range, 0.25-3.00). Among them, 29 (10% of all RCHs) needed additional laser session during the first 48 hours. Their median size was 1.5 DD (range, 0.5-3). Subretinal fluid transiently increased in 7 eyes after the first laser session and was controlled promptly by additional photocoagulation. Additional cryotherapy was needed only in 7 eyes with large RCH partially inactivated by laser. In all eyes, visual acuity remained stable during the follow-up. CONCLUSIONS: In the absence of tractional retinal detachment, laser photocoagulation allowed inactivating most RCHs up to 3 DD, even when they were associated with subretinal fluid. Laser photocoagulation alone inactivated 100% of RCHs up to 1 DD, and 73% of larger RCHs. In such cases, additional cryotherapy increased RCH inactivation to 94% so that 99% of all treated RCHs were finally inactivated.

Understanding the determinants of myopic choroidal neovascularization and response to treatment.

PURPOSE: The pathophysiologic pathways that govern the development of choroidal neovascularization (CNV) are complex. Patchy atrophy and lacquer cracks are known to be major anatomic risk factors for the development of myopic CNV, but they are not alone and much remains to be understood about other factors that influence development. In addition, a greater understanding of the modifiable and nonmodifiable factors that influence outcome, resolution, and recurrence after intravitreal injection of anti-vascular endothelial growth factor (VEGF) could lead to more personalized treatment algorithms that integrate parameters other than the presence of CNV itself and could help improve clinical outcomes and reduce recurrence. METHODS: We reviewed recently published data on risk factors for CNV and predictors of response to anti-VEGF treatments. In particular, data pertaining to age, sex, genetic predisposition, baseline visual acuity, axial length, staphyloma, lacquer cracks, atrophic lesions, choroidal thickness or choroidal thinning, characteristics of CNV such as duration, localization, and size of CNV, and treatment considerations such as choice of treatment, loading doses, and combination treatments were reviewed. RESULTS: Our analysis showed that the body of evidence is incomplete. CONCLUSIONS: Additional studies are required to identify high-risk patients and to develop personalized therapeutic approaches.

CONE DENSITY LOSS ON ADAPTIVE OPTICS IN EARLY MACULAR TELANGIECTASIA TYPE 2.

PURPOSE: To determine whether cone photoreceptors are impaired early in macular telangiectasia type 2 (MacTel 2) progression. METHODS: Eight patients with MacTel 2 lacking intraretinal cavitation underwent multimodal retinal imaging including adaptive optics. Cone packing metrics were determined in 5 sampling windows at different eccentricities from the fovea. Results were compared with a previously established normative database. RESULTS: In MacTel 2 eyes, cone density was significantly lower than normal at all eccentricities (P < 0.0001). Mean cone spacing and mean percentage of hexagonally organized cone photoreceptors were respectively significantly larger and lower than normal at all eccentricities (P = 0.0488 and P < 0.0001). In MacTel 2 patients, adaptive optics showed an irregular patchy disturbance of the cone mosaic corresponding to some fragmentation of the interdigitation zone on optical coherence tomography. The ellipsoid zone remained intact in the studied area. CONCLUSION: Adaptive optics showed that the macular cone density was lower than normal even outside the telangiectasia in MacTel 2 lacking intraretinal cavitation, although the ellipsoid zone remained intact on optical coherence tomography. These findings do not indicate that the cone density loss is causative of the disease as it might be secondary to Müller cell or rod loss in this area. However, cone density assessment could become a useful parameter to monitor disease progression.