Purpose:The purpose of this study was to characterize the clinical features, electrophysiology, and variant spectrum in ABCA4- and PRPH2-retinopathies and to identify novel electrodiagnostic biomarkers to differentiate between these two genotypes. Methods:We conducted an international multicenter case-control study of patients with a clinical and genetic diagnosis of ABCA4- or PRPH2-retinopathy. Age at symptom onset, best-corrected visual acuity (BCVA), electroretinography (ERG) components, and fundus autofluorescence (FAF) imaging were compared. Subgroup exploratory analysis was performed on those patients with a phenotype similar to central areolar choroidal dystrophy ("CACD-like"), those with flecks distributed throughout the posterior pole ("fleck-like") and a healthy control group. Receiver operating characteristic (ROC) analysis was performed to determine the optimal cutoff for ERG parameters to distinguish PRPH2- from ABCA4-retinopathy. Results:This study included 155 patients with ABCA4-retinopathy, 133 patients with PRPH2-retinopathy, and 52 healthy controls. Significant electrophysiological biomarkers included the light-adapted (LA)30 hertz (Hz) flicker and LA3.0 single flash b-wave peak time (P < 0.001) for the "CACD-like" group with an area under the ROC curve (AUROC) of 0.78 and 0.76 and cutoff thresholds of 27.8 ms or 31.7 ms providing 77% and 85% sensitivity, respectively. Conversely, in the "fleck-like" group, the dark-adapted (DA)0.01 b-wave amplitude and DA3 a-wave amplitude (P < 0.001) had the highest AUROC, namely 0.88 and 0.88, respectively, with cutoff thresholds of 85 µV and 109 µV providing 93% and 88% sensitivity, respectively. Conclusions:Unique ERG profiles can distinguish PRPH2- from ABCA4-retinopathy. The LA30 Hz peak time and DA0.01 b-wave amplitude may have clinical utility in predicting and interpreting the genotype in patients with overlapping retinal phenotypes.

Hunter syndrome is an X-linked recessive lysosomal storage disorder that is caused by a mutation in the iduronate sulfatase gene. Both anterior and posterior segment abnormalities are found as a result of the accumulation of glycosaminoglycans in ocular tissues. Retinal dystrophy, particularly rod-cone dystrophy, has a major effect on visual acuity, leading to significant visual impairment as the condition worsens. We report a case of a 53-year-old male patient of Asian descent previously diagnosed with Hunter syndrome, who presented with progressive difficulty in visual tracking and colour recognition. Fundus examination revealed bull's eye maculopathy in both eyes. Optical coherence tomography revealed severe attenuation of the outer retinal layers at the macula. Electrophysiological tests showed reduced photopic and scotopic responses, with P50 responses severely attenuated, and visual field testing showed a central scotoma in both eyes. Patients with Hunter syndrome can present with retinitis pigmentosa or rod-cone dystrophy. Accumulation of glycosaminoglycans in the retinal pigment epithelium results in photoreceptor loss, affecting both rods and cones. Maculopathy associated with rod-cone dystrophy may be associated with this condition.

BACKGROUND:Neural retina leucine zipper (NRL) is a crucial transcription factor that plays a key role in the development and differentiation of photoreceptor cells. A variant in this gene can cause a retinal phenotype known as Enhanced S cone Syndrome (ESCS). This study presents three novel autosomal recessive (ar) NRL variants and expands the clinical ophthalmic phenotype of NRL-associated retinopathy to include microphthalmia. METHODS:Investigations included electrodiagnostic testing, best corrected visual acuity (BCVA), optical coherence tomography (OCT), ultra-wide field autofluorescence (UWAF), fundus imaging, and visual fields. PubMed, Cochrane library and ClinVar database were used for literature search. RESULTS:Three patients (P1-3) from 2 different families with novel biallelic NRL variants were reported. P1 had novel homozygous likely-pathogenic NRL variant, p.(Glu86*). Genetic screening of both P2 and P3 identified a second and third novel heterozygous likely pathogenic variants, p.(Leu75Profs *19) and p.(Ser6Alafs *13). Multimodal imaging and functional studies in these patients were consistent with the classical features of ESCS with an additional feature of microphthalmia. CONCLUSION:This study expands the genotype and phenotype of NRL-associated retinopathy and compares the ocular phenotype of our cohort with published NRL reports in the literature.

To determine how Hardy-Rand-Rittler (HRR) colour vision testing correlates with visual functional and structural assessments in Cone and Cone-Rod Dystrophy. Thirty-four Cone and 69 Cone-Rod Dystrophy patients diagnosed by electroretinography (ERG) at the Save Sight Institute in Sydney were included in a retrospective analysis. Each patient’s HRR colour vision test scores were compared with markers of cone and rod system function including visual acuity (VA), ERG responses, changes on Spectral Domain Optical Coherence Tomography (OCT) and Fundus Autofluorescence. The number of plates identified on HRR testing correlated with logMAR best-corrected distance VA; r(101) = −0.49, p < 0.0001. HRR scores correlated with markers of cone and macula function including OCT Ellipsoid Zone Gap Width, Central Macular and Outer Nuclear Layer Thickness, Full Field ERG 30 Hz flicker amplitudes, light adapted 3.0 b-wave amplitudes and Pattern ERG 15- and 30-degree p50 amplitudes. HRR colour vision testing correlates with structural and functional measures in Cone and Cone-Rod Dystrophy. HRR colour vision testing provides a simple clinic-based option to monitor disease changes in Cone and Cone-Rod Dystrophy patients, especially when ERG testing is not available.

The electronegative electroretinogram (ERG) is a specific clinical finding usually indicating inner retinal dysfunction occurring post-phototransduction. X-linked retinoschisis (XLRS) and complete and incomplete congenital stationary night blindness (cCSNB, iCSNB) are inherited retinal dystrophies classically associated with electronegative ERGs. Comparing the full-field ERG b:a ratio expands current ERG diagnostic criteria and aids in localising physiological sites and pathological mechanisms. A retrospective review of patients with a clinical diagnosis of iCSNB, cCSNB and XLRS was conducted. ERG and genetic results were analysed. Average b:a ratios between groups were compared, and prevalence of electropositivity was assessed using thresholds of b:a > 1.0 and b:a > 1.50. 53 patients were included, and genetic confirmation was available in 7/24 iCSNB, 3/14 cCSNB and 11/15 XLRS patients respectively. In genetically proven cases, mean b:a ratio in XLRS patients (b:a = 1.04) was significantly higher than cCSNB (b:a = 0.60, p < 0.001) and iCSNB (b:a = 0.60, p < 0.001). An electropositive ERG was significantly more likely to be associated with RS1 than iCSNB (p < 0.001) or cCSNB (p = 0.001) at b:a > 1.0 threshold, and more likely RS1 than iCSNB (p = 0.040) at b:a > 1.5 threshold. Our study highlights the distinct ERG findings between these typically electronegative inner retinal dystrophies. In a clinical setting, the traditional electronegative definition of b:a < 1.0 appears very insensitive to detect XLRS patients. Our data suggests clinical suspicion should remain even in patients with a b:a ratio > 1.50, and highlights the importance of genetic testing in these cases.

PURPOSE. To describe the clinical, electrophysiological and genetic spectrum of inherited retinal diseases associated with variants in the PRPH2 gene. METHODS. A total of 241 patients from 168 families across 15 sites in 9 countries with pathogenic or likely pathogenic variants in PRPH2 were included. Records were reviewed for age at symptom onset, visual acuity, full-field ERG, fundus colour photography, fundus autofluorescence (FAF), and SD-OCT. Images were graded into six phenotypes. Statistical analyses were performed to determine genotype-phenotype correlations. RESULTS. The median age at symptom onset was 40 years (range, 4-78 years). FAF phenotypes included normal (5%), butterfly pattern dystrophy, or vitelliform macular dystrophy (11%), central areolar choroidal dystrophy (28%), pseudo-Stargardt pattern dystrophy (41%), and retinitis pigmentosa (25%). Symptom onset was earlier in retinitis pigmentosa as compared with pseudo-Stargardt pattern dystrophy (34 vs 44 years; P = 0.004). The median visual acuity was 0.18 logMAR (interquartile range, 0-0.54 logMAR) and 0.18 logMAR (interquartile range 0-0.42 logMAR) in the right and left eyes, respectively. ERG showed a significantly reduced amplitude across all components ( P < 0.001) and a peak time delay in the light -adapted 30 -Hz flicker and single -flash b -wave ( P < 0.001). Twenty-two variants were novel. The central areolar choroidal dystrophy phenotype was associated with 13 missense variants. The remaining variants showed marked phenotypic variability. CONCLUSIONS. We described six distinct FAF phenotypes associated with variants in the PRPH2 gene. One FAF phenotype may have multiple ERG phenotypes, demonstrating a discordance between structure and function. Given the vast spectrum of PRPH2 disease our findings are useful for future clinical trials.

Subretinal fibrosis is a major untreatable cause of poor outcomes in neovascular age-related macular degeneration. Mouse models of subretinal fibrosis all possess a degree of invasiveness and tissue damage not typical of fibrosis progression. This project characterises JR5558 mice as a model to study subretinal fibrosis. Fundus and optical coherence tomography (OCT) imaging was used to non-invasively track lesions. Lesion number and area were quantified with ImageJ. Retinal sections, wholemounts and Western blots were used to characterise alterations. Subretinal lesions expand between 4 and 8 weeks and become established in size and location around 12 weeks. Subretinal lesions were confirmed to be fibrotic, including various cell populations involved in fibrosis development. Müller cell processes extended from superficial retina into subretinal lesions at 8 weeks. Western blotting revealed increases in fibronectin (4 wk and 8 wk, p < 0.001), CTGF (20 wks, p < 0.001), MMP2 (12 wks and 20 wks p < 0.05), αSMA (12 wks and 20 wks p < 0.05) and GFAP (8 wk and 12 wk, p ≤ 0.01), consistent with our immunofluorescence results. Intravitreal injection of Aflibercept reduced subretinal lesion growth. Our study provides evidence JR5558 mice have subretinal fibrotic lesions that grow between 4 and 8 weeks and confirms this line to be a good model to study subretinal fibrosis development and assess treatment options.

Background/aims Acute posterior multifocal placoid pigment epitheliopathy is a rare but important disease that can be associated with life-threatening complications due to cerebral vasculitis. The primary objective was to determine the incidence of neurological complications and risk factors for stroke and transient ischaemic attack (TIA) associated with acute posterior multifocal placoid pigment epitheliopathy. Secondary objectives included the clinical presentation, visual outcomes and recurrence rates. Methods This was a multicentre retrospective case series including 111 eyes from 60 subjects presenting from January 2009 to June 2020. Results Median age at presentation was 29 years (IQR 24.7–35.1) and 36 subjects (60.0%) were male. 20 subjects (33.3%) reported a viral prodrome. Stroke and TIA were observed in seven subjects (11.7%). Older age was the only significant risk factor for stroke/TIA (p=0.042). Vision loss occurred in seven eyes, with four eyes (3.6%) having final visual acuity 6/15–6/60 and three eyes (2.7%) having visual acuity of 6/60 or worse. Recurrence occurred in 10 subjects (16.7%). Conclusions The presence of headache cannot reliably predict those at risk of stroke/TIA. Individuals presenting with acute posterior multifocal pigment epitheliopathy should therefore undergo a clinical neurological review and work-up for cerebral vasculitis as deemed appropriate by the treating ophthalmologist and collaborating neurologist.

center dot PURPOSE: To evaluate the influence of immunomodulatory therapy (IMT) on visual and treatment outcomes of inflammatory choroidal neovascularization (iCNV) in patients affected by multifocal choroiditis (MFC), and to compare them to patients treated with steroids as needed. center dot DESIGN: Multicenter retrospective matched cohort study. center dot METHODS: Patients affected by MFC with iCNV were divided into a IMT group and a "steroids as needed" group and matched according to the time between diagnosis and beginning of systemic treatment. Visual acuity (VA), number of anti-vascular endothelial growth factor (VEGF) intravitreal injections, and number of iCNV reactivations during 2 years of follow-up after treatment initiation were compared between the 2 groups. center dot RESULTS: A total of 66 eyes of 58 patients were included, equally divided into the 2 groups. Patients in the IMT group had a lower relative risk (RR) of iCNV reactivation (0.64, P = .04) and of anti-VEGF intravitreal injection retreatment (0.59, P = .02). Relapses of MFCrelated inflammation were independently associated with a higher RRs of iCNV reactivation (1.22, P = .003). Final VA was higher in the IMT compared to the steroids as needed group (mean [SD], 69.1 [15.1] vs 77.1 [8.9] letters, P = .01), and IMT was associated with greater VA gains over time ( +2.5 letters per year, P = .04). center dot CONCLUSIONS: IMT was associated with better visual and treatment outcomes in MFC complicated by iCNV compared to steroids as needed. The better outcomes of the IMT group and the association between MFC-related inflammation and iCNV reactivations highlight the need for tighter control of inflammation to prevent iCNV relapses and visual loss. (Am J Ophthalmol 2024;262: 62-72. (c) 2024 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NCND license ( http://creativecommons.org/licenses/by-ncnd/4.0/ ))

BackgroundKCNV2-associated retinopathy is an autosomal recessive inherited retinal disease classically named cone dystrophy with supernormal rod response (CDSRR). This study aims to identify the best biomarker for evaluating the condition.MethodsA retrospective review of eight patients from seven families with genetically confirmed KCNV2-associated retinopathy was performed. The best corrected visual acuity (BCVA), full-field electroretinogram (ffERG), pattern ERG (pERG), fundus imaging: retinal photograph and fundus autofluorescence (FAF), and optical coherence tomography (OCT) were analysed.ResultsThere was a disproportionate increase in b-wave amplitude with a relatively small light intensity increase, especially between the two dimmest stimuli of DA 0.002 and 0.01 (-2.7 and -2.0 log cd.s/m2). The a-wave amplitude was normal. The a-wave peak time was delayed in all stimuli. The b-wave peak time was delayed compared to normal, but the gap tightened as intensity increased. The b:a wave ratio was above or at the upper limit for the reference values. FAF bull's eye maculopathy pattern was prominent and variable foveal disruption on OCT was apparent in all patients. Legal blindness was reached before the age of 25.ConclusionsWe identified three potential electrophysiology biomarkers to assist in evaluating future therapies: the disproportionate b-wave amplitude jump, delayed a-wave and b-wave peak time, and the higher than normal b:a wave ratio. Any of these biomarkers found with photoreceptor ellipsoid zone foveal-perifoveal disruption should prompt consideration for KCNV2 retinopathy. The BCVA natural history data suggests the probable optimum therapeutic window in the first three decades of life.

Background: Inosine monophosphate dehydrogenase (IMPDH) is a key regulatory enzyme in the de novo synthesis of the purine base guanine. Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) are causative for RP10 autosomal dominant retinitis pigmentosa (adRP). This study reports a novel variant in a family with IMPDH1-associated retinopathy. We also performed a comprehensive review of all reported IMPDH1 disease causing variants with their associated phenotype.Materials and Methods: Multimodal imaging and functional studies documented the phenotype including best-corrected visual acuity (BCVA), fundus photograph, fundus autofluorescence (FAF), full field electroretinogram (ffERG), optical coherence tomography (OCT) and visual field (VF) data were collected. A literature search was performed in the PubMed and LOVD repositories.Results: We report 3 cases from a 2-generation family with a novel heterozygous likely pathogenic variant p. (Lys314Gln) (exon 10). The ophthalmic phenotype showed diffuse outer retinal atrophy with mild pigmentary changes with sparse pigmentary changes. FAF showed early macular involvement with macular hyperautofluorescence (hyperAF) surrounded by hypoAF. Foveal ellipsoid zone island can be found in the youngest patient but not in the older ones. The literature review identified a further 56 heterozygous, 1 compound heterozygous, and 2 homozygous variant. The heterozygous group included 43 missense, 3 in-frame, 1 nonsense, 2 frameshift, 1 synonymous, and 6 intronic variants. Exon 10 was noted as a hotspot harboring 18 variants.Conclusions: We report a novel IMPDH1 variant. IMPDH1-associated retinopathy presents most frequently in the first decade of life with early macular involvement.

Objective We tested the hypothesis that targeted retinal laser photocoagulation (TPRP) to peripheral retinal ischaemia reduces the overall burden of aflibercept injections when treating diabetic macular oedema (DMO) over a 24-month period. Methods Prospective, double-masked, multicentre, randomised controlled trial in Australia comparing aflibercept monotherapy, following a treat-and-extend protocol, or combination therapy of aflibercept and TPRP for DMO. The aflibercept monotherapy group received placebo laser. The primary outcome measure was the mean number of intravitreal aflibercept injections for each group at 24 months. Secondary outcome included: mean change in central macular thickness (CMT) and vision at trial completion, the proportion of eyes whose DMO resolved and the mean injection treatment interval. Ocular and systemic adverse events were recorded. Results We enrolled 48 eyes of 47 patients; 27 eyes were randomised to combination therapy (aflibercept and TPRP) and 21 to aflibercept monotherapy. Thirty-two eyes (67%) completed the 2-year study. The number of intravitreal treatments given were similar for combination therapy (10.5 (SD 5.8) and monotherapy (11.8 (SD5.6)) ( P = 0.44). The mean visual improvement (+4.0 (−1.8, 9.8) and +7.8 (2.6, 12.9) letters, P = 0.32), mean decrease in CMT (−154 (−222,−87) µm and −152 (−218,−86) µm, P = 0.96), proportion of eyes with CMT < 300 µm (48% and 67%; P = 0.50) and safety outcomes were similar in both the combination and monotherapy treatment groups (respectively). Conclusions Laser to areas of ischaemic peripheral retina does not reduce the burden of intravitreal aflibercept injections when treating diabetic macular oedema.

Internal Medicine JournalVolume 53, Issue 1 p. 157-159 Letter to the Editor In plain sight: neurosyphilis presenting with back pain Michelle Lin, Michelle Lin orcid.org/0000-0003-0868-0541 Department of Rheumatology, Westmead Hospital, Western Sydney Local Health District, Sydney, New South Wales, AustraliaSearch for more papers by this authorMariya Hamid, Mariya Hamid Department of Rheumatology, Westmead Hospital, Western Sydney Local Health District, Sydney, New South Wales, AustraliaSearch for more papers by this authorWendy Lau, Wendy Lau Department of Rheumatology, Westmead Hospital, Western Sydney Local Health District, Sydney, New South Wales, AustraliaSearch for more papers by this authorChristopher Go, Christopher Go Discipline of Ophthalmology and Save Sight Institute, Faculty of Medicine and Health Sciences, The University of Sydney, Sydney, New South Wales, Australia School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney, Sydney, New South Wales, AustraliaSearch for more papers by this authorElisa Cornish, Elisa Cornish Discipline of Ophthalmology and Save Sight Institute, Faculty of Medicine and Health Sciences, The University of Sydney, Sydney, New South Wales, AustraliaSearch for more papers by this authorMark Douglas, Mark Douglas orcid.org/0000-0003-4621-3485 Westmead Clinical School, Faculty of Medicine and Health Sciences, The University of Sydney, Sydney, New South Wales, Australia Centre for Infectious Diseases and Microbiology, Sydney Institute for Infectious Diseases, The University of Sydney at Westmead Hospital, Sydney, New South Wales, AustraliaSearch for more papers by this authorChong Wong, Chong Wong Department of Neurology, Westmead Hospital, Western Sydney Local Health District, Sydney, New South Wales, AustraliaSearch for more papers by this authorPeter K. K. Wong, Corresponding Author Peter K. K. Wong [email protected] Department of Rheumatology, Westmead Hospital, Western Sydney Local Health District, Sydney, New South Wales, Australia Westmead Clinical School, Faculty of Medicine and Health Sciences, The University of Sydney, Sydney, New South Wales, Australia Correspondence Peter K. K. Wong, Department of Rheumatology, Westmead Hospital, Cnr Hawkesbury and Darcy Roads, Westmead, Sydney, NSW 2145, Australia. Email: [email protected]Search for more papers by this author Michelle Lin, Michelle Lin orcid.org/0000-0003-0868-0541 Department of Rheumatology, Westmead Hospital, Western Sydney Local Health District, Sydney, New South Wales, AustraliaSearch for more papers by this authorMariya Hamid, Mariya Hamid Department of Rheumatology, Westmead Hospital, Western Sydney Local Health District, Sydney, New South Wales, AustraliaSearch for more papers by this authorWendy Lau, Wendy Lau Department of Rheumatology, Westmead Hospital, Western Sydney Local Health District, Sydney, New South Wales, AustraliaSearch for more papers by this authorChristopher Go, Christopher Go Discipline of Ophthalmology and Save Sight Institute, Faculty of Medicine and Health Sciences, The University of Sydney, Sydney, New South Wales, Australia School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney, Sydney, New South Wales, AustraliaSearch for more papers by this authorElisa Cornish, Elisa Cornish Discipline of Ophthalmology and Save Sight Institute, Faculty of Medicine and Health Sciences, The University of Sydney, Sydney, New South Wales, AustraliaSearch for more papers by this authorMark Douglas, Mark Douglas orcid.org/0000-0003-4621-3485 Westmead Clinical School, Faculty of Medicine and Health Sciences, The University of Sydney, Sydney, New South Wales, Australia Centre for Infectious Diseases and Microbiology, Sydney Institute for Infectious Diseases, The University of Sydney at Westmead Hospital, Sydney, New South Wales, AustraliaSearch for more papers by this authorChong Wong, Chong Wong Department of Neurology, Westmead Hospital, Western Sydney Local Health District, Sydney, New South Wales, AustraliaSearch for more papers by this authorPeter K. K. Wong, Corresponding Author Peter K. K. Wong [email protected] Department of Rheumatology, Westmead Hospital, Western Sydney Local Health District, Sydney, New South Wales, Australia Westmead Clinical School, Faculty of Medicine and Health Sciences, The University of Sydney, Sydney, New South Wales, Australia Correspondence Peter K. K. Wong, Department of Rheumatology, Westmead Hospital, Cnr Hawkesbury and Darcy Roads, Westmead, Sydney, NSW 2145, Australia. Email: [email protected]Search for more papers by this author First published: 24 January 2023 https://doi.org/10.1111/imj.15985Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. References 1Ghanem KG. REVIEW: neurosyphilis: a historical perspective and review. CNS Neurosci Ther 2010; 16: e157– 68. 2 The Australian Society for HIV, Viral Hepatitis and Sexual Health Medicine. Australian STI Management Guidelines for Use in Primary Care: Syphilis. Sydney, Australia: ASHM; 2021 [cited 25 Aug 2022]. Available from: https://sti.guidelines.org.au/sexuallytransmissible-infections/syphilis/. Volume53, Issue1January 2023Pages 157-159 ReferencesRelatedInformation

Neuronal ceroid lipofuscinosis is a group of neurodegenerative disorders with varying visual dysfunction. CLN3 is a subtype which commonly presents with visual decline. Visual symptomatology can be indistinct making early diagnosis difficult. This study reports ocular biomarkers of CLN3 patients to assist clinicians in early diagnosis, disease monitoring, and future therapy. Retrospective review of 5 confirmed CLN3 patients in our eye clinic. Best corrected visual acuity (BCVA), electroretinogram (ERG), ultra-widefield (UWF) fundus photography and fundus autofluorescence (FAF), and optical coherence tomography (OCT) studies were undertaken. Five unrelated children, 4 females and 1 male, with median age of 6.2 years (4.6–11.7) at first assessment were investigated at the clinic from 2016 to 2021. Four homozygous and one heterozygous pathogenic CLN3 variants were found. Best corrected visual acuities (BCVAs) ranged from 0.18 to 0.88 logMAR at first presentation. Electronegative ERGs were identified in all patients. Bull’s eye maculopathies found in all patients. Hyper-autofluorescence ring surrounding hypo-autofluorescence fovea on FAF was found. Foveal ellipsoid zone (EZ) disruptions were found in all patients with additional inner and outer retinal microcystic changes in one patient. Neurological problems noted included autism, anxiety, motor dyspraxia, behavioural issue, and psychomotor regression. CLN3 patients presented at median age 6.2 years with visual decline. Early onset maculopathy with an electronegative ERG and variable cognitive and motor decline should prompt further investigations including neuropaediatric evaluation and genetic assessment for CLN3 disease. The structural parameters such as EZ and FAF will facilitate ocular monitoring.

Central retinal vein occlusion and branch retinal vein occlusion are common causes of visual loss due to associated macular oedema. The aim of this review was to assess the effectiveness of interventions improving vision and treating macular oedema in central retinal vein occlusion and branch retinal vein occlusion.