Phenotypic heterogeneity in family members of patients with retinitis pigmentosa

Purpose: To describe the phenotypic variations in family members of patients with retinitis pigmentosa (RP) with different modes of inheritance and to assess the ocular abnormalities in RP families. Methods: A descriptive analysis of three types of inheritance of RP was carried out, where 64 family members were examined at a tertiary eye care center, South India. They underwent comprehensive eye examination, fundus photography, fundus autofluorescence (FAF), full?field electroretinogram (FFERG), and spectral domain optical coherence tomography (SD?OCT). Analysis was performed between mild and severe forms of abnormalities to delineate retinal structural and functional defects in RP families. Results: The mean age was 38.55 ± 17.95 years. Males were 48.4%. In autosomal recessive and X?linked recessive groups, 74.2% and 77.3%, respectively, were asymptomatic, whereas in autosomal dominant group, 27.3% were asymptomatic. The proportion of the cases with abnormalities in all three groups was higher on ERG (59.6%), followed by OCT (57.5%), visual acuity (43.7%), peripheral FAF (23.5%), and macular FAF (11.8%). However, these abnormalities and the clinical pictures of the family members had no statistical difference across the three groups of inheritance. Conclusion: Structural and functional retinal alterations were noted in four out of five asymptomatic members, suggesting the need for careful screening of RP families and the pressing need for pre?test (genetic) counseling

Guidelines for the application of the fundus autofluorescence in age-related macular degeneration(2023) / 国际眼科杂志(Guoji Yanke Zazhi)

Fundus autofluorescence(FAF)imaging is based on the fluorescence excited by the endogenous fluorophores in the retinal pigment epithelium and choroid, mainly referring to lipofuscin(LF)and melanin. The non-invasive examination method can imply the function of retinal pigment epithelium by observing the spatial distribution of LF or melanin. This technique has unique advantages in the diagnosis and differentiation of age-related macular degeneration(ARMD). This guideline is to standardize and interpret the application of FAF in different stages and classifications of ARMD.

Autofluorescence combined with spectral domain optical coherence tomography for diagnosis and follow-up of acute Vogt-Koyanagi-Harada disease / 南方医科大学学报

OBJECTIVE@#To evaluate the value of fundus autofluorescence (FAF) imaging combined with spectral domain optical coherence tomography (SD-OCT) in diagnosis, prognostic assessment and follow-up observation of acute Vogt-KoyanagiHarada (VKH) disease.@*METHODS@#Clinical data were collected from 12 patients (23 eyes) with acute VKH disease treated in our hospital from May, 2018 to November, 2019, including detailed medical history, best corrected visual acuity (BCVA), and results of slit lamp biomicroscopy, fundus photography, SD-OCT, fundus fluorescein angiography (FFA) and FAF imaging.SDOCT and FAF imaging were repeated after a course of treatment and in follow-up examination, and the results were compared with those at the time of admission.@*RESULTS@#VKH disease involved both eyes in 11 patients (91.7%).Fundus photography showed optic disc edema in 16 eyes (69.6%), and multiple retinal neuroepithelial detachment was detected by SD-OCT in all the involved eyes (100%).IN all the eyes, FFA revealed small and dense fluorescein leakage in the early stage and fluorescein accumulation in advanced stages of VHK disease to form multiple dye pooling in the areas of serous detachment.Hyperauto fluorescence was a common finding in FAF imaging (100%), and the area involved was consistent with that of fluorescein accumulation shown by FAF imaging.Ten eyes (43.5%) showed patches of relative hypoautofluorescence in the hyperauto fl uorescence areas, and granular hyperauto fl uorescence was found in the lesions in 4 eyes (17.4%).During the remission period of VKH disease, FAF imaging showed normal finding in 8 eyes (34.8%) and reduced areas (by 55.2%) and intensity (by 46.5%) of hyperautofluorescence in 9 eyes (39.1%).In 6 eyes (26.1%), only a few hyperautofluorescent spots scattered in the macula were observed.SD-OCT demonstrated significantly reduced (by 69.5% on average) or even disappearance of subretinal fluid in the eyes.The fluorescence intensity in FAF imaging showed a significant positive correlation with the volume of subretinal fluid detected by SD-OCT (@*CONCLUSIONS@#The combination of fluorescein angiography, FAF imaging and SD-OCT can significantly improve the diagnostic accuracy of VKH disease.FAF imaging combined with SD-OCT provides an effective and noninvasive modality for evaluation of remission and monitoring the changes in VKH disease.

Comparison of wide-field swept source optical coherence tomography angiography and fundus autofluorescence in tubercular serpiginous-like choroiditis

Purpose: To evaluate the potential clinical utility of wide-field swept source optical coherence tomography angiography (SS-OCTA) using a prototype device compared to a wide-field fundus autofluorescence (FAF) for analysis of the disease activity in eyes with tubercular serpiginous-like choroiditis (TBSLC). Methods: Using a prototype SS-OCTA device (PLEX Elite, Carl Zeiss Meditec, Dublin, CA), 17 eyes of 12 consecutive patients with TBSLC were imaged and multiple 12 mm � 12 mm OCTA scans were captured, which were montaged to create wide-field montage OCTA images scans. A wide- FAF (Eidon, CenterVue, Padova, Italy) was performed in the same sitting. Two masked graders independently analyzed OCTA and FAF images for the presence of choroidal lesions, recorded the number of lesions identifiable, and provided a subjective grading for the activity of individual lesion, which were then compared. Results: The total number of lesions identified on FAF were 282 (posterior pole lesions, n = 129 and peripheral lesions n = 153) and on wide-field SS-OCTA were 230 (posterior pole lesions, n = 108 and peripheral lesions n = 122). Active choroidal lesions were comparable on the two machines (n = 28 on FAF and n = 28 on SS-OCTA, respectively); whereas numerous healed lesions were identified on FAF (n = 219) as compared to SS-OCTA (n = 170). There was good correlation among the devices for healed lesions (Pearson correlation, r = 0.82) and active lesions (r = 0.88). Conclusion: There was good correlation between FAF and wide-field SS-OCTA for detection of disease activity in TBSLC; however, FAF depicted greater number of healed lesions compared to wide-field SS-OCTA.

Morphological changes of macular soft drusen and drusenoid DPED after subthreshold micropulse laser treatment / 国际眼科杂志(Guoji Yanke Zazhi)

@#AIM: To analyze the morphological changes of macular soft drusen and drusenoid pigmental epithulium detachment(DPED)after subthreshold micropulse laser treatment(SMLT).<p>METHODS: Fourteen patients(20 affected eyes)with soft drusen and DPED clinically confirmed from August 2016 to October 2018, were included in this study. 577 nm yellow laser of SMLT was applied for soft drusen and DPED. The changes of soft drusen and DPED in best corrected visual acuity(BCVA)(LogMAR)and height, diameter and cross-sessional area according to fundus autofluorescence and SD-OCT examinations were observed after SMLT.<p>RESULTS: BCVA was not significant difference after treatment of soft drusen(<i>P</i>=0.260), and the DPED(<i>P</i>=0.736)than that of the baseline. Compared with the baseline values, the height and cross-sessional area of soft drusen were reduced at the 6mo after treatment(<i>P</i>=0.008, <i>P</i>=0.034). Compared with the baseline values, the differences were not statistically significant in height, diameter and cross-sectional area of DPED after treatment.<p>CONCLUSION: BCVA was not reduced for drusen and DPED after SMLT, however, the height and cross-sessional area of soft drusen was reduced compared with those before treatment, and the differences were not statistically significant in height, diameter and cross-sectional area of DPED before and after treatment. The results indicated that SMLT was effective for soft drusen, but was not effective for short-term treatment of DPED. SMLT caused no damage to the visual acuity in treatment of soft drusen and DPED, but prospective, controlled, large sample and long-term follow-up studies should be required.

Morphological changes of macular soft drusen and drusenoid DPED after subthreshold micropulse laser treatment / 国际眼科杂志(Guoji Yanke Zazhi)

@#AIM: To analyze the morphological changes of macular soft drusen and drusenoid pigmental epithulium detachment(DPED)after subthreshold micropulse laser treatment(SMLT).<p>METHODS: Fourteen patients(20 affected eyes)with soft drusen and DPED clinically confirmed from August 2016 to October 2018, were included in this study. 577 nm yellow laser of SMLT was applied for soft drusen and DPED. The changes of soft drusen and DPED in best corrected visual acuity(BCVA)(LogMAR)and height, diameter and cross-sessional area according to fundus autofluorescence and SD-OCT examinations were observed after SMLT.<p>RESULTS: BCVA was not significant difference after treatment of soft drusen(<i>P</i>=0.260), and the DPED(<i>P</i>=0.736)than that of the baseline. Compared with the baseline values, the height and cross-sessional area of soft drusen were reduced at the 6mo after treatment(<i>P</i>=0.008, <i>P</i>=0.034). Compared with the baseline values, the differences were not statistically significant in height, diameter and cross-sectional area of DPED after treatment.<p>CONCLUSION: BCVA was not reduced for drusen and DPED after SMLT, however, the height and cross-sessional area of soft drusen was reduced compared with those before treatment, and the differences were not statistically significant in height, diameter and cross-sectional area of DPED before and after treatment. The results indicated that SMLT was effective for soft drusen, but was not effective for short-term treatment of DPED. SMLT caused no damage to the visual acuity in treatment of soft drusen and DPED, but prospective, controlled, large sample and long-term follow-up studies should be required.

Morphological changes of macular soft drusen and drusenoid DPED after subthreshold micropulse laser treatment / 国际眼科杂志(Guoji Yanke Zazhi)

?AIM:To analyze the morphological changes of macular soft drusen and drusenoid pigmental epithulium detachment ( DPED ) after subthreshold micropulse laser treatment ( SMLT) .?METHODS: Fourteen patients ( 20 affected eyes ) with soft drusen and DPED clinically confirmed from August 2016 to October 2018, were included in this study. 577 nm yellow laser of SMLT was applied for soft drusen and DPED. The changes of soft drusen and DPED in best corrected visual acuity ( BCVA ) ( LogMAR ) and height, diameter and cross-sessional area according to fundus autofluorescence and SD - OCT examinations were observed after SMLT.?RESULTS: BCVA was not significant difference after treatment of soft drusen (P=0.260), and the DPED (P=0. 736 ) than that of the baseline. Compared with the baseline values, the height and cross-sessional area of soft drusen were reduced at the 6mo after treatment ( P=0. 008, P=0.034) . Compared with the baseline values, the differences were not statistically significant in height, diameter and cross - sectional area of DPED after treatment.?CONCLUSION: BCVA was not reduced for drusen and DPED after SMLT, however, the height and cross -sessional area of soft drusen was reduced compared with those before treatment, and the differences were not statistically significant in height, diameter and cross -sectional area of DPED before and after treatment. The results indicated that SMLT was effective for soft drusen, but was not effective for short-term treatment of DPED. SMLT caused no damage to the visual acuity in treatment of soft drusen and DPED, but prospective, controlled, large sample and long-term follow-up studies should be required.

Classification of fundus autofluorescence abnormal patterns in diabetic macular edema

Introduction: Patients with diabetic macular edema can develop fundus autofluorescence alterations; thus far, these alterations have been more widely studied with scanning or confocal laser systems. Objective: To describe and classify fundus autofluorescence abnormal patterns in patients with diabetic macular edema using the fundus autofluorescence system with a flash camera. Method: Observational, retrospective, cross-sectional, descriptive study. Fundus autofluorescence digital images of non-comparative cases with untreated diabetic macular edema, obtained and stored with a flash camera system, were assessed. Inter-observer variability was evaluated. Results: 37 eyes of 20 patients were included. Lens opacity was the most common cause of inadequate image quality. Five different fundus autofluorescence patterns were observed: decreased (13%), normal (40%), single-spot hyper-autofluorescent (17 %), multiple-spot hyper-autofluorescent (22 %) and plaque-like hyper-autofluorescent (8 %). The kappa coefficient was 0.906 (p = 0.000). Conclusions: Different fundus autofluorescence phenotypic patterns are observed with flash camera systems in patients with diabetic macular edema. A more accurate phenotypic classification could help establish prognostic factors for visual loss or for the design of clinical trials for diabetic macular edema.

Autofluorescência em um caso de distrofia macular anular concêntrica benigna / Fundus autofluorescence in a case of benign concentric annular macular dystrophy

Resumo A distrofia macular anular concêntrica benigna (DMACB) é uma patologia retiniana rara e provavelmente subdiagnosticada em nosso meio, que se caracteriza por um defeito retiniano em bull's eye sem uso prévio de antimaláricos, associado à preservação relativa da acuidade visual. Devido à escassez de publicações sobre o tema, existem poucos dados referentes aos resultados dos exames complementares nesta patologia. No presente artigo, apresenta-se a descrição da autofluorescência em um caso clássico de DMACB, ainda inédita na literatura, podendo acrescentar achados importantes para auxiliar no diagnóstico e seguimento da doença.

Abstract The benign concentric annular macular dystrophy (BCAMD) is a very rare and probably underdiagnosed eye disease, characterized by a retinal fault in bull's eye pattern, without the association with antimalarial use, but related with good visual acuity. Since there aren't many publications about this condition, is hard to find data regarding the results of complementary examination. In this article, is presented the description of fundus autofluorescence in a classic BCAMD case, yet unpublished, and capable of helping the diagnosis and follow-up of this pathology.

Research advance in clinical application of multimode imaging in Serpiginous choroiditis / 国际眼科杂志(Guoji Yanke Zazhi)

@#Serpiginous choroiditis(SC)is a rare, chronic-idiopathic inflammatory disease mainly involving choriocapillaris and the retinal pigment epithelium(RPE), characterized by grayish yellow geographic lesions. Pathogenesis is unclear, the choriocapillaris is a main pathology of SC. Based on clinical presentation, it can be classified into peripapillary, macular, and ampiginoustype. The clinical appearance of SC is varied and similar to those of acute posterior multifocal placoid pigment epitheliopathy(APMPPE), tuberculosis, toxoplasmosis and choroidal ischemia. So, it is still difficult to diagnose SC without typical fundus symptoms.With the development of science and technology, multimode imaging such asfundus fluorescein angiography, indocyanine green angiography, fundus autofluorescence and optical coherence tomography are helpful for the diagnosis of SC, assessment of lesion extent, activity, and complications. Besides, it's very important to avoid unnecessary drug use.

Retinal pigment epithelium aperture: A late-onset complication in adult-onset foveomacular vitelliform dystrophy

Purpose: The purpose of the study was to report aperture of retinal pigment epithelium (RPE) as a late complication and an unreported finding during the natural course of adult-onset foveomacular vitelliform dystrophy (AFVD). Methods: Four diagnosed cases of AFVD followed for a period ranging from 4 to 8 years. All patients had documented records of clinical examination, fundus autofluorescence and fluorescein angiography, and spectral domain-optical coherence tomography at regular intervals. Results: Besides the known stages in the natural course of AFVD, RPE aperture was noted as an additional finding during the vitelliruptive stage of the disease. The vitelliform material was noted beneath the disrupted RPE before disappearance. Accumulation of vitelliform material continued even after the vitelliruptive stage. Conclusion: RPE aperture may represent an ongoing process in the natural course of AFVD.

Characteristics of near-infrared fundus autofluorescence at the leakage site in acute central serous chorioretinopathy / 国际眼科杂志(Guoji Yanke Zazhi)

@#AIM: To investigate the characteristics of near-infrared fundus autofluorescence(NIR-FAF)at the leakage site in acute central serous chorioretinopathy(CSC). <p>METHODS: Twenty-five eyes of the 25 patients diagnosed with acute CSC(mean age 44.52±6.17 years)were included in this retrospective study. Fundus fluorescein angiography and NIR-FAF imaging were performed using a confocal scanning laser ophthalmoscope. The imaging features of NIR-FAF at the leakage site were analyzed. <p>RESULTS: There were four patterns of NIR-FAF at the leakage site in acute CSC eyes: no NIR-FAF abnormal changes, hypoautofluorescence(hypo-AF), mottled autofluorescence(AF)and hyperautofluorescence(hyper-AF). Only 1 eye(4%)among 25 eyes of NIR-FAF imaging at the leakage site had no obvious abnormalities, while other 24 eyes(96%)had abnormal changes. Among them, 7 eyes had dot-like hypo-AF, 10 eyes had expanded hypo-AF, 5 eyes had expanded mottled AF and the remaining 2 eyes had expanded hyper-AF. All eyes had abnormal NIR-FAF corresponding to the area of the serous retinal detachment, including 17 eyes with hypo-AF and 8 eyes with mottled AF. <p>CONCLUSION: There are characteristic NIR-FAF changes at the leakage sites of acute CSC eyes. NIR-FAF photography can be used as a fast, effective and non-invasive method for the early detection of RPE abnormality in acute CSC.

Changes in retinal structure after short-pulse laser treatment / 眼科新进展

Objective To observe the changes in retinal structure after shortpulse laser technique and conventional laser surgery.Methods Oburg fundus photography,spectral domain optical coherence tomography (SD-OCT) and fundus autofluorescence (FAF) examination were performed in 16 patients (22 eyes) receiving shortpulse laser surgery,following 19 patients (25 eyes) undergoing conventional laser surgery to observe the spot situation with the time for postoperative 1 h,1-2 weeks,1-3months,＞3-6 months,＞ 6-12 months.Results After 1 h of short-pulse laser,fundus color displayed light spot of the center was white and gray,which surrounded by gray dizzy;SD-OCT images showed spot ellipsoid area formed a ring out of band,but the inner retina and retinal pigment epithelium (RPE) had no significant change.FAF showed multiple spontaneous fluorescence signals to reduce the circular area;at 1-2weeks after laser surgery,fundus photography showed spot center for white and gray,and the surrounded gray dizzy became larger,and FAF spontaneous fluorescence signal in light spot center was enhanced,while SD-OCT showed that the outer nerve sensory layer was pulled to the photocoagulation spot center.From 1 month to 3 months,some of the epithelial layers of the nerves were restored to normal,and ＞ 3-6 months,the epithelial layer of the nerve was basically restored to normal;and ＞ 6-12 months,the nerve epithelium was back to normal.As for conventional laser surgery,1 h later,fundus photography and FAF performance were similar to the short-pulse laser,and the SD-OCT showed that the whole retinal layer had dropsy in the spot place;after 1-2 weeks,the spot center was gray and white,and the surrounded gray halo turned enlargement,and FAF spontaneous fluorescence signal in light spot center was enhanced,while SD-OCT showed that the outer nerve sensory layer was pulled to the spot center with adhesion;after 1-3 months,fundus photography and FAF performance were similar to those of short-pulse laser,while SD-OCT presented the RPE cells hyperplasia and ring atrophy around the spot,and the RPE atrophy around the spot was gradually enlarged,plus the whole layer of the nerve epithelium was adhesion ＞ 3-6 months after surgery.＞6-12 months later,the results showed the RPE layer atrophy and nerve epithelium layer adhesion.The results of FAF in all follow-up groups were consistent with that of OCT results.Conclusion OCT and FAF are the important methods to observe the postoperative retinal laser structure changes,which can provide objective basis for the confirmation that short-pulse laser has less damage than the conventional laser treatment,and this provides a new research idea to optimize the laser parameters.

Unilateral hemorrhagic maculopathy: An uncommon manifestation of hand, foot, and mouth disease.

Hand, foot, and mouth disease (HFD) is a common systemic infection occurring in childhood or immunocompromised adults caused by enteroviruses, the most common being coxsackievirus A16 and enterovirus 71. It is characterized by maculopapular eruptions over the hands and feet and ulcerative stomatitis. Ocular involvement is a rare complication and commonly manifests as inflammatory macular pathology. We report a case of HFD in an immunocompetent adult male with unilateral ocular involvement presenting as hemorrhagic maculopathy and its management with complete anatomical and functional recovery.

Screening for chloroquine maculopathy in populations with uncertain reliability in outcomes of automatic visual field testing.

Purpose: The purpose of this study was to compare screening methods for the early detection of maculopathy in patients treated with chloroquine (CQ) or hydroxychloroquine (HCQ) and to identify the risk factors for the development of toxic maculopathy. Methods: We performed a prospective study of all 217 patients taking CQ and/or HCQ and seen in our center between July 2011 and December 2013. All subjects underwent a complete ocular examination, as well as spectral domain optical coherence tomography (SD‑OCT), fundus autofluorescence (FAF), and 10‑2 Humphrey visual field (10‑2 HVF). Results: The median age of patients was 51 years, median CQ/HCQ duration was 40 months, and median cumulative dose was 180 g. The prevalence of at least two abnormal tests was 7.4% (16/217). SD‑OCT had the highest sensitivity, specificity, predictive values and accuracy while 10‑2 HVF showed in 30% of nonreliable results and had the lowest specificity and positive predictive value. In multivariate analysis, an age of older than 60 years (P = 0.002), CQ duration of more than 5 years (P < 0.001), and CQ dose more than 3 mg/kg/day (P = 0.005) were associated with toxicity. Conclusions: In patients with unreliable outcomes of 10‑2 HVF testing, SD‑OCT in combination with FAF might represent a suitable alternative screening tool for toxic maculopathy.

Fundus Autofluorescence, Fluorescein Angiography and Spectral Domain Optical Coherence Tomography Findings of Retinal Astrocytic Hamartomas in Tuberous Sclerosis

PURPOSE: To analyze the structural and morphological characteristics of retinal astrocytic hamartomas in tuberous sclerosis patients using fundus autofluorescence, fluorescein angiography and spectral-domain optical coherence tomography. CASE SUMMARY: Fundus examination, fundus autofluorescence, fluorescein angiography and spectral-domain optical coherence tomography were performed in three patients with tuberous sclerosis and the morphological and structural characteristics of retinal astrocytic hamartomas were analyzed. In the fundus autofluorescence, type 1 retinal astrocytic hamartoma showed hypofluorescence and type 3 showed central hyperfluorescence and surrounding hypofluorescence. Spectral domain optical coherence tomography showed dome-shaped hyper-reflectivity within the nerve fiber layer and focal adhesion of the vitreous cortex in the type 1 retinal astrocytic hamartoma. No abnormalities were observed in the outer retinal layer and retinal pigment epithelium. In the type 3 retinal astrocytic hamartoma, optical coherence tomography showed disorganization of retinal tissue and posterior shadowing. Intratumoral cavitation and moth-eaten appearance caused by intratumoral calcification were observed and the vitreous cortex adhered to the top of the tumor and showed traction. Retinal arterial sheathing was observed in all cases and hyper- reflectivity of the arterial wall was noted on optical coherence tomography. CONCLUSIONS: Fundus autofluorescence, fluorescein angiography and spectral-domain optical coherence tomography are helpful for the classification and diagnosis of retinal astrocytic hamartomas found in tuberous sclerosis patients as well as for differentiation from other lesions.