Fundus Autofluorescence Findings Research Articles

Multimodal Retinal Imaging Findings in Hardikar Syndrome.

To describe the syndromic, clinical, and retinal findings of a patient with an extremely-rare genetic condition known as Hardikar Syndrome (HS) with presentation of optical coherence tomography (OCT), fundus autofluorescence (FAF), fluorescein angiographic (FA), and indocyanine green angiographic (ICG) findings. Clinical course was detailed and followed over time with examinations and multimodal imaging. A 17-year-old patient with HS was referred for possible retinitis pigmentosa. Dilated fundoscopic examination revealed large, multifocal cauliform patches of chorioretinal retinal pigment epithelium (RPE) changes with RPE drop-out involving the macula and periphery in both eyes. Additionally, an inactive choroidal neovascular membrane (CNVM) was present in the left eye. Multimodal imaging with OCT, FAF, FA and ICG correlated with the clinical findings of focal patches of chorioretinal degeneration in both eyes. Additionally, an anomalous finding of the superior retinal arterial vessels filling in tandem with the choroidal was present in the left eye. The patient's clinical findings were consistent with HS, and genetic testing with whole exome sequencing revealed a pathogenic mutation in the MED12 gene, confirming diagnosis. HS is associated with RPE degeneration, creating focal patches of pigmentary chorioretinal atrophic lesions. Vision loss can occur due to the development of CNVMs. We recommend close evaluation and follow-up for HS patients with multimodal retinal imaging.

Association Between Arch-Shaped Hypo-Autofluorescent Lesions Detected Using Fundus Autofluorescence and Postoperative Hypotony.

Background: Chorioretinal folds are observed after vitrectomy due to ocular collapse caused by low intraocular pressure. The purpose of this study is to investigate the relationship between the postoperative hypotony, chorioretinal folds, and the fundus autofluorescence (FAF) findings. Methods: Two-hundred-and-seventy consecutive eyes that had undergone 25- or 27-gauge vitrectomy were examined. The associations between the arch-shaped hypo-autofluorescent lesions in the FAF images and the postoperative hypotony with intraocular pressure (IOP) ≤ 4 mmHg were determined on the day after the surgery. Results: Arch-shaped hypo-autofluorescent lesions were seen in 4 of the 270 eyes (1.5%), and hypo-autofluorescence was observed in 3 of 14 hypotonic eyes (18.5%). This was significantly more frequent than in the non-hypotony group (0.4%, p = 0.0004). Optical coherence tomography showed a loss of the ellipsoid zone and retinal pigment epithelial layer in the region of the arch-shaped lesions. None of the arch-shaped hypo-autofluorescent lesions involved the fovea, and the vision recovered in all cases. The hypo-autofluorescent lesions did not disappear during the 4 to 16 month observation period. Conclusions: The postoperative arch-shaped hypo-autofluorescent lesions were associated with postoperative hypotony and RPE damage due to chorioretinal folds. These findings remained even when the IOP was normalized and chorioretinal folds disappeared.

Choroidal Nevus Associated with Vitelliform Deposition in a Patient with Autosomal Dominant Best Dystrophy.

To describe the clinical, optical coherence tomography (OCT), fundus autofluorescence and ultrasound findings of a patient with a choroidal nevus actively exuding vitelliform material in the setting of Autosomal Dominant Best dystrophy (BD). The patient's clinical course was followed over time with ophthalmic examinations and multimodal imaging. A 71-year-old male with BD was referred for evaluation of a choroidal nevus in the right eye. Dilated fundoscopic exam showed a small pigmented choroidal nevus in the temporal periphery. Over a 3-year period the nevus developed progressive deposition of vitelliform material along its inferior border. Meanwhile, OCT and fundus photography showed only slight growth. Ultrasound showed no change in height; basal measurements were confounded by the increased vitelliform deposits. Genetic testing confirmed a heterozygous mutation in the BEST1 gene and electrophysiology was consistent with BD. Dysfunction of the retinal pigment epithelium associated with BD may cause novel presentations of other conditions such as choroidal nevi. The implications for malignant transformation of a choroidal nevus associated with vitelliform deposit accumulation in this context is unknown.

Progressive Retinopathy in a Patient with Mucopolysaccharidosis Type II undergoing Enzyme Replacement Therapy: A Case Report.

To report the changing fundus autofluorescence (FAF) and ocular coherence tomographic (OCT) findings through time in a patient with mucopolysaccharidosis type II being treated with idursulfase, an enzyme replacement therapy (ERT). Case report with clinical photography. We report the case of a 27-year old male patient with mucopolysaccharidosis type II whom we followed from 2019-2023. Throughout follow-up we noticed a slow increase of parafoveal outer retinal atrophy centripetally which is reflected in a smaller hyper-auto-fluorescent ring and increasing ring scotoma on visual field testing. The patient remains asymptomatic.Discussion/Conclusion: Despite continuing long-term enzyme replacement treatment with idursulfase the retinopathy associated with mucopolysaccharidosis type II progressed in our patient.

Changes in Optical Coherence Tomography and Fundus Autofluorescence Findings in Acute Zonal Occult Outer Retinopathy

We report a case of peripapillary acute zonal occult outer retinopathy (AZOOR) in a 43-year-old woman. Fundus photographs showed no specific abnormal findings, while blue-light fundus autofluorescence (FAF) imaging revealed well-defined hyperfluorescent areas in the peripapillary region, excluding the macula. The ellipsoid zone (EZ) was absent on optical coherence tomography (OCT) images of this area. Visual field testing with Goldmann perimetry showed blind spot enlargement and multifocal electroretinogram showed corresponding amplitude reductions. Three months after the initial visit, the EZ had reappeared and both FAF and visual field had improved. FAF together with OCT may be useful in the evaluation and monitoring of AZOOR.

Clinical Characteristics and Genetic Variants of a Large Cohort of Patients with Retinitis Pigmentosa Using Multimodal Imaging and Next Generation Sequencing

This retrospective study identifies patients with RP at the Inherited Retinal Disease Clinic at the University of Minnesota (UMN)/M Health System who had genetic testing via next generation sequencing. A database was curated to record history and examination, genetic findings, and ocular imaging. Causative pathogenic and likely pathogenic variants were recorded. Disease status was further characterized by ocular coherence tomography (OCT) and fundus autofluorescence (AF). Our study cohort included a total of 199 patients evaluated between 1 May 2015–5 August 2022. The cohort included 151 patients with non-syndromic RP and 48 with syndromic RP. Presenting symptoms included nyctalopia (85.4%) photosensitivity/hemeralopia (60.5%), and decreased color vision (55.8%). On average, 38.9% had visual acuity of worse than 20/80. Ellipsoid zone band width on OCT scan of less than 1500 μm was noted in 73.6%. Ninety-nine percent had fundus autofluorescence (AF) findings of a hypo- or hyper-fluorescent ring within the macula and/or peripheral hypo-AF. Of the 127 subjects who underwent genetic testing, a diagnostic pathogenic and/or likely pathogenic variant was identified in 67 (52.8%) patients—33.3% of syndromic RP and 66.6% of non-syndromic RP patients had a diagnostic gene variant identified. It was found that 23.6% of the cohort had negative genetic testing results or only variants of uncertain significance identified, which were deemed as non-diagnostic. We concluded that patients with RP often present with advanced disease. In our population, next generation sequencing panels identified a genotype consistent with the exam in just over half the patients. Additional work will be needed to identify the underlying genetic etiology for the remainder.

Multiple evanescent white dot syndrome in highly myopic eye in which fundus autofluorescence was diagnostically useful: A case report.

Multiple evanescent white dot syndrome (MEWDS) is characterized by multiple white dots in the posterior pole of the eye, but its diagnosis can be difficult in cases when the white dots are not visible. We report an atypical case of MEWDS that developed in pathologic myopia. A 42-year-old woman presented with floater and reduced and distorted vision in the right eye that she noted 3 days earlier. The right eye was highly myopic at -17.0 diopters, and her decimal best-corrected visual acuity was reduced to 0.2 (20/100). Fundus examinations revealed no abnormalities other than myopic fundus changes and previous laser photocoagulation spots. However, fundus autofluorescence (FAF) showed multiple hyperfluorescent dots, and optical coherence tomography showed a high reflective lesion on the retinal pigmental epithelium at the fovea. Adjustments of the brightness and contrast of the conventional fundus images revealed white dots in the same location as the hyperfluorescent spots seen in the FAF images. We diagnosed her with MEWDS. We treated her with systemic administration of 20 mg prednisolone and the dose of prednisolone was reduced by 5 mg every 4 weeks. The optical coherence tomography and FAF findings gradually normalized, and 5 months later, her decimal visual acuity was restored to 1.0 (20/20). It was suggested that white dots typical to MEWDS may not be evident in pathologic myopia, and FAF images and the brightness and contrast adjustment of fundus images were useful in the diagnosis of atypical MEWDS.

Acute annular outer retinopathy preceded by invasive ductal breast carcinoma: a case report

BackgroundAcute annular outer retinopathy (AAOR) is an uncommon disease. To date, there are few documented cases in the literature. Our case report is the first to describe a case of acute annular outer retinopathy in a patient with invasive ductal breast carcinoma.Case presentationThe patient presented with photopsias and visual loss approximately 3 weeks prior to a diagnosis of invasive ductal breast carcinoma. We have documented the outer annular white ring seen in the acute phase of this disease and correlate it anatomically with Spectral-domain optical coherence tomography (SD-OCT) imaging. We identified RPE atrophy with nodular hyperreflectivity and loss of ellipsoid layer within the white annular ring with corresponding visual field loss. Fundus autofluorescence correlated with structural alterations seen on SD-OCT and showed both presumed active hyperautofluorescent zones with patchy hypoautofluorescent zones of atrophy and a classic annular hyperautofluorescent border. This case provides additional information about the natural history of this rare entity and its prognosis and varied presentation.ConclusionsThe authors report a single case of acute annular outer retinopathy in a patient with invasive ductal breast carcinoma with the corresponding SD-OCT, fundus autofluorescence and visual field findings, during the acute phase of the disease. These findings provide new insight into the characteristic features, etiology and progression of this rare disease.

RETINITIS PIGMENTOSA SINE PIGMENTO: Clinical Spectrum and Pigment Development.

To investigate the clinical findings, natural course, and pigment development of patients with retinitis pigmentosa (RP) sine pigmento using multimodal imaging. We reviewed the medical records of 810 consecutive patients with RP and assessed serial ultra-widefield fundus photography, fundus autofluorescence, and optical coherence tomography images. Electrophysiological and visual field analysis findings were also reviewed. Of the 774 patients with RP who met the inclusion criteria, 88 were diagnosed with RP sine pigmento, with a prevalence of 11.4%. The mean age of the patients was 35.57 years compared with 49.83 years for patients with typical RP. Fifty-nine patients (67%) demonstrated minimal color change, whereas 29 (33%) presented with grayish flecks in the retinal pigment epithelium on fundus photography. All patients with RP sine pigmento had abnormalities on fundus autofluorescence, and the commonest fundus autofluorescence findings were punctate or reticular hypoautofluorescence. Of the 62 patients without pigmentation at the first visit and at the follow-up visits, 14 (22.6%) had developed pigmentation at their follow-up visit, with an average time of 3.92 years. Most patients retained a visual acuity of ≥20/50 within the age of 50 years. Diagnosing RP sine pigmento based solely on ophthalmoscopic findings is more difficult than in more typical cases. Multimodal imaging can provide insights into the clinical characteristics to facilitate the diagnosis, classification, and follow-up of patients.

Evaluation of Fundus Autofluorescence Patterns in Patients with Central Serous Chorioretinopathy - A Prospective, Observational Study

Aim:The aim of the study was to evaluate the patterns of fundus autofluorescence (FAF) and analyze the association between FAF and swept-source optical coherence tomography (SS-OCT) in idiopathic central serous chorioretinopathy (CSCR).Materials and Methods:65 eyes of 65 patients were prospectively included in this study. Patients underwent a complete ophthalmologic examination. We classified patterns on FAF imaging into five types as blocked FAF, mottled FAF, hyper-FAF, hyper/hypo-FAF, and descending tract pattern. Each FAF pattern was then analyzed based on the SS-OCT findings.Results:Blocked FAF pattern was seen in 47.69% of patients, mottled in 7.69%, hyper in 23.07%, hyper/hypo in 18.46%, and descending tract in 3.07%. There is a significant difference between FAF patterns in all subjects (P< 0.0001). The blocked FAF pattern (mean [M] = 0.20, standard deviation [SD] = 0.14) showed the best visual acuity among all others. The descending tract FAF pattern group (M = 0.54, SD = 0.08) and hyper/hypo-FAF pattern group (M = 0.38, SD = 0.28) showed the least favorable visual prognosis in our study. The intact ellipsoid zone on the SS-OCT was mostly found in the blocked FAF group, and the disrupted ellipsoid zone was commonly exhibited in the hyper/hypo and descending tract groups. Disrupted external limiting membrane line on the SS-OCT was seen in one patient of the descending tract group only.Conclusions:The association between FAF and SS-OCT findings was analyzed in patients with idiopathic CSCR in our study. Detailed investigation using FAF could help estimate the duration of CSCR.

Mid-Phase Hyperfluorescent Plaques Seen on Indocyanine Green Angiography in Patients with Central Serous Chorioretinopathy.

(1) Indocyanine green angiography (ICG-A) shows the presence of mid-phase hyperfluorescent area in central serous chorioretinopathy (CSCR). However, their exact meaning remains uncertain. (2) The clinical and multimodal imaging findings of 100 patients (133 eyes) with CSCR, including the enhanced-depth-imaging OCT (EDI-OCT), blue-light fundus autofluorescence (BAF), fluorescein and indocyanine green angiography (FA and ICG-A) findings were reviewed. Mid-phase hyperfluorescent plaques (MPHP) were defined as fairly well circumscribed hyperfluorescent regions during the midphase of the ICG-A. The association between MPHP and other clinical/imaging parameters was assessed using a multiple logistic regression analysis. (3) MPHP were detected in 59.4% of eyes with CSCR. The chronic form of the disease, the presence of irregular pigment epithelium detachments (PED) and the retinal pigment epithelium (RPE) changes seen on FA were associated with the presence of MPHP in the multivariate analysis (p = 0.015; p = 0.018 and p = 0.002; respectively). OCT showed RPE bulges or PED in 98.7% of areas with MPHP and BAF showed changes in 57.3% of areas with MPHP. (4) MPHP were associated with a chronic form of CSCR and colocated with PED or RPE bulges. MPHP should be recognized as a sign of early RPE dysfunction before it is detected with BAF.

EYS-Associated Sector Retinitis Pigmentosa.

Sector retinitis pigmentosa (RP) is a rare form of rod-cone degeneration typically associated with mutations in the RHO gene. We describe six unrelated patients presenting with this atypical phenotype in association with biallelic mutations in EYS gene. Multinational, multicentre cross-sectional case series. Patients with biallelic disease-causing variants in EYS and a clinical diagnosis of sector RP were recruited from specialized centres in Portugal and Brazil. All patients underwent a comprehensive ophthalmologic examination complemented by deep phenotyping. Peripheral blood samples were collected from all probands and available relatives for genetic analysis. Genetic counselling was provided to all subjects. Seven disease-causing variants (4 pathogenic; 3 likely pathogenic) were identified in 6 unrelated female patients. Best-corrected visual acuity ranged from 75 to 85 ETDRS letters. All eyes showed bilateral and symmetrical areas of outer retinal atrophy distributed along the inferior vascular arcades and extending temporally and/or nasally in a crescent-shaped pattern. On fundus autofluorescence (AF), a foveal-sparing curvilinear band of hyperAF encroaching the optic nerve head and extending temporally was seen in 4 patients. The remaining 2 presented bilateral and symmetrical patches of hypoAF inside crescent-shaped areas of hyperAF along the inferior temporal vascular arcade. Visual field testing revealed superior visual field defects of varying extents, always in close association with the fundus AF findings. Even though EYS has only recently been listed as a cause of the sector RP phenotype, we believe that this presentation is not infrequent and should be considered an important differential for sector RP.

OCULAR CHANGES IN PATIENTS ON LONG TREATMENT WITH HYDROXYCHLOROQUINE

Introduction: To study the ocular changes in patients on long term treatment with Hydroxychloroquine (HCQ); and detect means for early detection of toxicity.Methods: We conducted a cross-sectional observational study at a tertiary care hospital, in which 100 patients, male and female, aged 35 years or more, taking HCQ for 5 years or more were included. Patients with any known ocular or systemic diseases were not included. Indication, dosage, duration and cumulative dose of HCQ intake were recorded. History of ocular symptoms, visual acuity, colour vision, complete ophthalmic examination, visual field using Amsler grid and 10-2 Humphrey’s automated fields (HVF), Spectral Domain Optical Coherence Tomography (SD-OCT), colour fundus photography, fundus fluorescein angiography (FFA) and fundus autofluorescence (FAF) were recorded. The data was analyzed using descriptive and inferential analysis.Result: 15% of the study population showed signs of HCQ related ocular toxicity. 17%, 21% and 10% patients had abnormal SD-OCT, HVF and FAF findings respectively.Conclusion: HCQ related ocular toxicity has been found in patients in the absence of symptoms. Objective tests like HVF, SD- OCT and FAF were more useful in early detection of toxicity than subjective tests such as Amsler grid, colour vision and FFA.

Demographic and Multimodal Imaging Features of Macular Telangiectasia Type 2: Korean Macular Telangiectasia Type 2 Study – Report No. 2

ABSTRACT Purpose: To investigate the demographic and multimodal imaging features of macular telangiectasia (MacTel) type 2 in Korea and their relationship with visual acuity and the clinical stage. Methods: A retrospective multicentre cross-sectional study was conducted in six tertiary hospitals in Korea and the study included 84 patients. Demographic data and imaging data of fundus photography, fundus autofluorescence (FAF), confocal blue-light reflectance (CBR), fluorescein angiography (FAG), and optical coherence tomography (OCT) were collected. Results: The Korean patients with MacTel type 2 were predominantly female (75%), and the mean logMAR visual acuity was 0.282 ± 0.280 at initial presentation. Most commonly presented signs were the loss of retinal transparency in fundus photographs (68.3%); increased autofluorescence in FAF (83.6%); increased blue reflectance involving the centre in CBR (68.0%); telangiectatic vessels in FAG (88.2%); and hyporeflective cavities in OCT (77.7%). The eyes diagnosed in the first half of the study period (2009–2014) showed a tendency to be diagnosed at more advanced severe stages than those diagnosed in the second half of the study period (2015–2019), using new severity scales based on FAG, FAF and OCT findings. Conclusion: The clinical features of MacTel type 2 in Korean patients assessed by newer imaging modalities suggest that Korean patients and the Caucasian-dominant population show similar presentations. This study showed that MacTel type 2 can be diagnosed in the earlier phase of the disease by using new imaging modalities and through better understanding of the disease.

Unusual clinical phenotype of Stargardt disease

Mutations in the ABCA4 gene are a common cause of Stargardt disease; however, other retinal phenotypes have also been associated with mutations in this gene. We describe an observational case report of an unusual clinical phenotype of Stargardt disease. The ophthalmological examination included best corrected visual acuity, color and autofluorescence photography, fluorescein angiography, optical coherence tomography, and electrophysiology tests. Targeted next-generation sequencing of 99 genes associated with inherited retinal dystrophies was performed in the index patient. A 48-year-old woman presented with a best corrected visual acuity of 20/25 and 20/20. Fundoscopy revealed perifoveal yellow flecked-like lesions. Fluorescein angiography and fundus autofluorescence findings were consistent with pattern dystrophy. Pattern electroretinogram demonstrated bilateral decrease of p50 values. Genetic testing identified two heterozygous missense mutations, c.428C>T, p.(Pro143Leu) and c.3113C>T, p.(Ala.1038Val), in the ABCA4 gene. Based on our results, we believe that these particular mutations in the ABCA4 gene could be associated with a specific disease phenotype characterized by funduscopic appearance similar to pattern dystrophy. A detailed characterization of the retinal phenotype in patients carrying specific mutations in ABCA4 is crucial to understand disease expression and ensure optimal clinical care for patients with inherited retinal dystrophies.

Multimodal Imaging in a Long-standing Case of Pattern Dystrophy

Purpose: The aim of this study is to report the case of a patient diagnosed with butterfly pattern dystrophy (BPD), which during yearly follow-up visits developed a concomitant pachychoroidal neovasculopathy (PNV). Methods: Case report focusing on the role multimodal imaging in patients with pattern dystrophies (PDs) Case report: We describe a case of a 52-year-old woman,which was initially diagnosed with BPD by fundus examination, fundus autofluorescence and optical coherence tomofraphy findings. Interestingly, during yearly follow-up visits, the presence of a thickened choroid bilaterally associated with the onset of concomitant choroidal neovascularizations (CNVs) in the right eye was made possibile by adopting multimodal imaging, in particular optical coherence tomography angiography. Fluorescein angiography and indocyanine green angiography findings helped us to make the diagnosis of PNV. Conclusion: We described for the first time a case of PD, which after several years progressed to PNV. Hence, we deem that multimodal imaging and in particular optical coherence tomography angiography represent an important diagnostic tool in the management of PDs.

Fundus autofluorescence imaging.

Fundus autofluorescence (FAF) imaging is an in vivo imaging method that allows for topographic mapping of naturally or pathologically occurring intrinsic fluorophores of the ocular fundus. The dominant sources are fluorophores accumulating as lipofuscin in lysosomal storage bodies in postmitotic retinal pigment epithelium cells as well as other fluorophores that may occur with disease in the outer retina and subretinal space. Photopigments of the photoreceptor outer segments as well as macular pigment and melanin at the fovea and parafovea may act as filters of the excitation light. FAF imaging has been shown to be useful with regard to understanding of pathophysiological mechanisms, diagnostics, phenotype-genotype correlation, identification of prognostic markers for disease progression, and novel outcome parameters to assess efficacy of interventional strategies in chorio-retinal diseases. More recently, the spectrum of FAF imaging has been expanded with increasing use of green in addition to blue FAF, introduction of spectrally-resolved FAF, near-infrared FAF, quantitative FAF imaging and fluorescence life time imaging (FLIO). This article gives an overview of basic principles, FAF findings in various retinal diseases and an update on recent developments.

CORRELATION STUDY BETWEEN DRUSEN MORPHOLOGY AND FUNDUS AUTOFLUORESCENCE.

To correlate drusen morphology and outer retinal status with autofluorescence (AF) imaging in patients with intermediate age-related macular degeneration. Drusen type and morphology were analyzed using color fundus photography and spectral-domain optic coherence tomography, whereas fundus AF was used for drusen AF evaluation. Additional structural changes on spectral-domain optic coherence tomography, such as disruption of external limiting membrane, ellipsoid zone, and retinal pigment epithelium/Bruch membrane complex, as well as the presence of choroidal hypertransmission at correspondent locations were also evaluated and correlated with fundus AF findings. Spearman's correlation coefficient was used to analyze the correlation between spectral-domain optic coherence tomography morphological characteristics of drusen and AF appearance of the corresponding drusen. Strength of correlation was calculated (r), and a P value < 0.05 was considered statistically significant. Two hundred and twenty-eight drusen from 53 eyes of 53 patients were analyzed, 130 soft drusen (57.02%) and 98 cuticular drusen (42.98%). Sixty percent of the drusen were isoautofluorescent (n = 136), 35% hyperautofluorescent (n = 80), and 5% hypoautofluorescent (n = 12). We found positive correlation between drusen AF and hyperreflective foci (r = 0.4). Outer retinal layers morphology (external limiting membrane and ellipsoid zone status and hypertransmission) also correlates with autofluorescent findings (r = 0.3). Multimodal imaging reveals a broad spectrum of ultrastructural changes, which may reflect different stages in the evolution of drusen. Our results suggest that drusen morphological characteristics and autofluorescent findings are correlated but other factors or cofactors may be involved. The described correlations will help us understand new progression biomarkers of nonexudative age-related macular degeneration.

Posterior staphylomas in non-highly myopic eyes with retinitis pigmentosa.

Our aim was to highlight the presence and the frequency of posterior staphyloma (PS) in non-highly myopic retinitis pigmentosa (RP) patients and to study the relationship between PS and choroidal thickness (CT). This was a retrospective case-control study of 77 eyes (39 patients) with RP, axial length inferior to 26mm and clinically preserved macular area. All patients underwent fundus photography, A- and B-scan ocular ultrasonography, fundus autofluorescence (FAF) and swept source optical coherence tomography (SS-OCT). PS was defined by an outward bowing of the sclera on SS-OCT and B-scans. The relationship between the PS and SS-OCT layers thicknesses was determined. Over 77 RP eyes of 39 patients studied, a PS was identified in 17 eyes (22%) of nine patients. Fifteen eyes had a narrow macular staphyloma (NMS), and two eyes had a wide macular staphyloma (WMS). Mean age in this group was 34.2years (range 19-53years), mean axial length was 23.60 ± 0.61mm and mean CT was 185.7 ± 71 um versus 259.7 um in eyes without PS. The staphyloma edges corresponded to area of outer retina loss on SS-OCT and were larger than the hyperautofluorescent ring on FAF. We found a significant association between PS and CT in our RP patients (p = 0.003). The mean CT was significantly thinner in PS eyes compared to eyes without staphyloma. There was no significant association between PS and with visual acuity, years of progression, retinal thickness nor FAF findings. PS was present in 22% of non-highly myopic eyes with RP. Narrow macular staphyloma was the most common type observed in our series. A marked thinning of the choroid was noted in PS eyes when compared to RP eyes without PS, as well as the outer retina degeneration.

Biomarkers in Usher syndrome: ultra-widefield fundus autofluorescence and optical coherence tomography findings and their correlation with visual acuity and electrophysiology findings.

To investigate the functional and structural biomarkers and their correlation with Usher syndrome (USH). Medical records, imaging and electrophysiology test results of USH patients attending the Save Sight Institute between 2012 and 2017 were reviewed. Best corrected visual acuity (BCVA), ultra-widefield autofluorescence (UW-FAF), spectral-domain optical coherence tomography (SD-OCT), full-field electroretinogram and pattern electroretinogram (pERG) were performed. SD-OCT scans assessed central macular thickness (CMT), greatest linear diameter of preserved outer retinal layers-macular island (MI) and presence of cystoid macular edema (CME). UW-FAF images were qualitatively graded to identify hypo/hyperfluorescence patterns in the peripheral fundus. Thirty-six eyes from 18 subjects were included. Mean BCVA was 0.22 ± 0.3 LogMAR. MI extent was significantly associated with better vision (β = - 0.175 per 1000µm; R2 = 0.487; P = 0.002; Fig.4). A higher pERG P50 was associated with a larger macular island (β = 782 per µV; R2 = 0.238; P = 0.025), while a higher pERG N95 was associated with a smaller macular island (β = - 499 per µV; R2 = 0.219; P = 0.030). Mean CMT was 271 ± 35μm and was significantly associated with better vision (β = - 0.083 per 10µm; R2 = 0.612; P < 0.001). CME was diagnosed in 47.2% (n = 17) eyes. There was no significant difference in mean BCVA for those with CME (0.19 ± 0.2 LogMAR) and without CME (0.40 ± 0.5; R2 = 0.081; P = 0.17). All patients had abnormal UW-FAF. Four main patterns of change were identified (granular 55%, annular 11%, bone spicule 17% and patchy 17%). Patients with the patchy pattern demonstrated worse BCVA in comparison with those with granular (P < 0.0001) and bone spicule (P = 0.0179) patterns. Structural changes identified on OCT and UW-FAF correlated with BCVA and pERG in this cohort representing different stages of the disease. These parameters could represent reliable biomarkers in therapeutic clinical trials on USH.