Areas Of Hypoautofluorescence Research Articles

Shwachman-Diamond syndrome associated with rod-cone dystrophy.

To report a patient with Shwachman-Diamond syndrome and concomitant rod-cone dystrophy who underwent bone marrow transplantation. Retrospective single case report. A female patient with Shwachman-Diamond syndrome was referred to a tertiary hospital to investigate possible pigmentary retinopathy at the age of 16. She described poor night vision and was found to have reduced visual acuity (6/20 right, 6/38 left). Over the ten-year follow-up period, her visual acuity remained relatively stable with no new visual symptoms. Optical coherence tomography revealed progressive, diffuse outer retinal thinning with disruption of the ellipsoid zone, which initially was relatively preserved subfoveally. Fundus autofluorescence images revealed generalised areas of hypoautofluorescence beyond the vascular arcades and a perimacular ring of increased autofluorescence. The flash electroretinogram was in keeping with a severe rod-cone dystrophy. The pattern visual evoked potential was abnormal but detectable indicating macular pathway dysfunction, suggesting encroachment into central macular regions but with some functional preservation. We report a patient with Shwachman-Diamond syndrome with severe early-onset rod-cone dystrophy noted at the age of 16. Slow anatomical progression has been observed over the subsequent ten years, with relative functional macular preservation to support a visual acuity of 6/36 in both eyes.

Butterfly-shaped Pattern Dystrophy : Findings of Retinal Imaging

Butterfly shaped pattern dystophy (BPD) is a inherited macular disease which is characterized by the accumulation of pigment/lipofuscin in the retinal pigment epithelium, it might be misdiagnosed as age-related macular degeneration (AMD). Retinal imaging is a useful tool for the differential diagnosis of pattern dystrophy. In this report, we describe a 64 year old man presented metamorphopsia and reduced visual acuity in both eyes. Fundus examination showed an area of depigmentation delimited resembling a butterfly. The OCT revealed a subfoveal hyperreflective deposit above the retinal pigment epithelium (RPE) while fundus autofluorescence (FAF) shows hypoautofluorescent areas outlined by a lipofuscin deposits as hyperautofluorescent Finally, fluoroscein angiography (FFA) revealed early macular hyperfluorescence.

Case series: Fundus autofluorescence abnormalities in a family of ocular albinism carriers.

Carriers of ocular albinism demonstrate signs of retinal mosaicism with unique features on fundus autofluorescence testing, which differentiate this condition from other x-linked retinal disorders in carrier patients. Distinctive findings include a mud-splattered fundus with peripheral hyperpigmented streaks, which correlate with areas of hyperautofluorescence and hypoautofluorescence. This is the first reported case series of a family that demonstrates diagnostic retinal and fundus autofluorescence abnormalities related to retinal mosaicism in three sisters who were unaware they were carriers of ocular albinism type 1. Multimodal imaging, electrodiagnostic testing, and genetic testing can be used to confirm the diagnosis and differentiate this clinical presentation from other sight-threatening hereditary retinal diseases. Three sisters, aged 21, 17, and 13 years, were referred to determine the cause of abnormal retinal pigmentation. All presented with normal vision, and anterior segment examination was unremarkable without iris transillumination. They denied family history of ocular disease. Fundus examination of all three sisters revealed a mud-splattered pattern of pigmentation in the posterior pole and radial pigmentary streaks. Fundus autofluorescence showed a pattern of hyperautofluorescence and hypoautofluorescence corresponding to this pigmentary pattern. Spectral domain optical coherence tomography, electro-oculogram, and electroretinogram were normal in all three sisters. Genetic testing of their father, who was unaware of any disorder, tested positive for ocular albinism. Ocular albinism carriers have abnormal retinal pigmentation in a characteristic pattern. Fundus autofluorescence shows a correlative pattern that can confirm carrier status of ocular albinism in individuals unaware of their status and rule out other retinal degenerations.

Blue-Light Fundus Autofluorescence (BAF), an Essential Modality for the Evaluation of Inflammatory Diseases of the Photoreceptors: An Imaging Narrative.

Our purpose is to describe blue-light fundus autofluorescence (BAF) features of inflammatory diseases of the outer retina characterised by photoreceptor damage. BAF from patients diagnosed with secondary and primary inflammatory photoreceptor damage were retrospectively analyzed and compared to other imaging modalities including fluorescein angiography (FA), indocyanine green angiography (ICGA), and spectral domain optical coherence tomography (SD-OCT). Multiple evanescent white dot syndrome (MEWDS), idiopathic multifocal choroiditis (MFC), acute posterior multifocal placoid pigment epitheliopathy (APMPPE), serpiginous choroiditis (SC), and acute syphilitic posterior placoid chorioretinitis (ASPPC), all cases corresponding to secondary photoreceptor diseases caused by inflammatory choriocapillaris nonperfusion, were included and compared to primary photoreceptor disease entities, including acute zonal occult outer retinopathy (AZOOR) and cancer-associated retinopathy (CAR). Both groups showed increased BAFs of variable intensity. In severe cases of APMPPE and ASPPC, BAF also showed hypoautofluorescent areas. In group 1 (secondary diseases) BAF hyperautofluorescent areas were associated with colocalized ICGA hypofluorescent areas, indicating choriocapillaris nonperfusion; whereas in group 2 (primary diseases), no ICGA signs were detected. The associated colocalized areas of hypofluorescence on ICGA in the first group, which were absent in the second group, were crucial to allow the differentiation between primary (photoreceptoritis) and secondary (choriocapillaritis) photoreceptor diseases. BAF patterns in inflammatory diseases of the outer retina can give relevant information on the photoreceptor and RPE involvement, with ICGA being crucial to detect concurring choriocapillaris damage and differentiating the two pathologies.

Monitoring Lesion Area Progression in Stargardt Disease: A Comparison of En Face Optical Coherence Tomography and Fundus Autofluorescence.

To compare longitudinal changes in en face spectral domain-optical coherence tomography (SD-OCT) measurements of ellipsoid zone (EZ) and retinal pigment epithelium (RPE) loss to changes in the hypoautofluorescent and hyperautofluorescent (AF) areas detected with short-wavelength (SW)-AF in ABCA4-associated retinopathy. SD-OCT volume scans were obtained from 20 patients (20 eyes) over 2.6 ± 1.2 years (range 1-5 years). The EZ, and RPE/Bruch's membrane boundaries were segmented, and en face slab images generated. SubRPE and EZ slab images were used to measure areas of atrophic RPE and EZ loss. These were compared to longitudinal measurements of the hypo- and abnormal AF (hypoAF and surrounding hyperAF) areas. At baseline, the en face area of EZ loss was significantly larger than the subRPE atrophic area, and the abnormal AF area was significantly larger than the hypoAF area. The median rate of EZ loss was significantly greater than the rate of increase in the subRPE atrophic area (1.2 mm2/yr compared to 0.5 mm2/yr). The median rate of increase in the abnormal AF area was significantly greater than the increase in the hypoAF area (1.6 mm2/yr compared to 0.6 mm2/yr). En face SD-OCT can be used to quantify changes in RPE atrophy and photoreceptor integrity. It can be a complementary or alternative technique to SW-AF with the advantage of monitoring EZ loss. The SW-AF results emphasize the importance of measuring changes in the hypo- and abnormal AF areas. The findings are relevant to the selection of outcome measures for monitoring ABCA4-associated retinopathy.

RPGRIP1 variant associated with pigmented paravenous chorioretinal atrophy.

To report a case of Pigmented Paravenous Chorioretinal Atrophy (PPCRA) associated with a novel RPGRIP1 dominant variant. Case report. The patient underwent multimodal retinal imaging, including spectral-domain optical coherence tomography (OCT), OCT Angiography (OCTA), blue-light autofluorescence (BAF), and ultra-widefield pseudocolor retinography and autofluorescence. Genetic testing was performed using next-generation sequencing. A 67-year-old male presented with a clinical suspicion of retinitis pigmentosa. His best-corrected visual acuity was 20/32 in the right eye and 20/200 in the left eye. On fundus examination, paravenous pigment clumping and chorioretinal atrophy were seen bilaterally, matching confluent hypoautofluorescent areas departing from the optic disc. This clinical presentation suggested a case of PPCRA. Genetic testing found a heterozygous deletion of nucleotide 631 (c.631del) in the RPGRIP1 gene, a frameshift variant that generates a premature stop codon (p.Ser211Valfs*64) and therefore results in a truncated or absent protein product. The variant was regarded as likely pathogenic (class IV). In this report, we describe a case of PPCRA in association with a novel, likely pathogenic c.631del, p.Ser211Valfs*64 variant in RPGRIP1, a gene that has been associated with Leber congenital amaurosis and cone-rod dystrophy. Our case expands the spectrum of genes associated with PPCRA and prompts further studies to ascertain the molecular etiopathogenesis of this disease.

Cross-Sectional Study of Cone Function in Age-Related Macular Degeneration Subjects With Non-foveal Nascent Geographic Atrophy

To determine photoreceptor function in subjects with drusen only and non-foveal nascent geographic atrophy (nGA) intermediate age-related macular degeneration. In this cross-sectional study, 60 eyes from 33 subjects, 30 with drusen only and 30 with non-foveal nGA determined by spectral domain optical coherence tomography (SD-OCT) and fundus autofluorescence (FAF) underwent testing for best-corrected visual acuity (BCVA), low-luminance visual acuity (LLVA), and qCSF algorithm (area under log contrast sensitivity function [AULCSF]) under both standard photopic and low-luminance (LL AULCSF) conditions. Areas of nGA-associated hypo-autofluorescence (hypo-AF) were graded. In the drusen group, visual acuity (VA)=81 letters ± 3 (mean ± SD), LLVA=65 letters ± 4, AULCSF=0.99 ± 0.0.5, and LL AULCSF=0.38 ± 0.04, whereas in the nGA group, VA=77 ± 4 letters, LLVA=61± 4, AULCSF=0.87 ± 0.09, and LL AULCSF=0.28 ± 0.06. Multivariate analysis of variance among the LLVA, AULCSF, and LL AULCSF did not demonstrate a statistical difference (P=.167), whereas LL AULCSF analyzed by analysis of variance demonstrated a significant difference between the 2 groups (P=.037). Linear regressions demonstrated significant relationships between BCVA and AULCSF in both the drusen and nGA groups (r=0.83, P < 10-9 and r=0.61, P=.0004) but did not correlate with AULCSF under low-luminance conditions (r=2.9, P=.13) in the nGA group. The total area of hypo-AF was negatively associated with poorer visual functions. The use of LL AULCSF and certain features of FAF should be considered in clinical trials of intermediate age-related macular degeneration. NOTE: Publication of this article is sponsored by the American Ophthalmological Society.

Kinetics of Heterogeneous Background in Stargardt's Disease over Time.

Stargardt’s disease (STGD1) is caused by mutations in the ABCA4 gene. Different lesions characterised by decreased autofluorescence levels are found in fundus autofluorescence (FAF) from STGD1 patients and could be used as outcome indicators for disease progression. We investigated the fate of foci with reduced autofluorescence (FRA) within the heterogeneous background of STGD1 patients using FAF imaging. Genetically confirmed STGD1 patients presenting heterogeneous background autofluorescence on high-quality FAF images at a minimum of two visits at least 12 months apart were chosen. A grid centred on the fovea was used to define five different zones. Within each zone, five FRA were randomly selected for each eye. The eccentricity of foci was determined at different time points for each patient. Analysis of 175 randomly chosen FRA showed consistent centrifugal displacement over time, most notably in eyes showing areas with definitely decreased autofluorescence. Interestingly, FRA did not leave an area of hypo-autofluorescence on FAF in locations where they were previously located. These findings may help to better understand STGD1 progression, improve FAF interpretation, and shed light on the nature of heterogeneous background.

Leopard spot chorioretinopathy revealing late onset sympathetic ophthalmia

AbstractPurposeTo report a case of a very late onset atypical sympathetic ophthalmia presented as a leopard spot retinopathy.MethodsAn observational case report of a 64‐year‐old patient with a history of penetrating ocular trauma of the right eye (RE) at the age of 3‐year‐old who presented with visual blurring of the left eye (LE). The patient underwent complete ophthalmic examination, autofluorescence imaging, fluorescein angiography, Indocyanine Green (ICG) angiography, swept‐source optical coherence tomography (SS‐OCT).ResultsExamination of the RE showed a phthisis bulbi. Visual acuity of the LE was limited to hand motion. Slit lamp examination revealed +1 cells anterior chamber inflammation, granulomatous keratic precipitates, posterior synechiae, with a mild cataract and +2 vitreous cells. Fundoscopy showed multiple yellowish patchy subretinal lesions. Fluorescein angiography revealed hyperfluorescent nummular areas at early frames without late leakage surrounded by zones of hypofluorescences. Fundus autofluorescence imaging showed a leopard spot pattern with areas of hypoautofluorescence surrounded by hyperautofluorescence. ICG angiography showed no hypofluorescent dark dots. SS‐OCT demonstrated retinal thickening, multiple areas of flat subretinal fluid, irregular hyperreflective spots at the photoreceptor outer segment layer and irregularities of the retinal pigment epithelium. The diagnosis of unilateral diffuse uveal melanocytic proliferation (DUMP) was first made. The patient underwent a systemic workup with full‐body computed tomography scans, cerebral and ocular magnetic resonance imaging and blood tests including tumor markers. All tests were normal. The patient was put on oral prednisone (1 mg/kg/day) during 6 months with a gradual tapering and good initial outcome. Visual acuity increased to 40/200.Two weeks after stopping steroids, he presented with acute granulomatous anterior uveitis and the diagnosis of very late onset sympathetic ophthalmia was made.ConclusionsLeopard retinopathy can be an uncommon clinical presentation of a variety of disorders especially sympathetic ophthalmia. The diagnosis could be challenging in case of atypical presentation and very late onset. Treatment outcome and close follow‐up should be considered for a correct diagnosis.

Novel disease-causing variant in RDH12 presenting with autosomal dominant retinitis pigmentosa

AimTo describe the clinical and molecular features of a novel, autosomal dominant RDH12-retinopathy.MethodsRetrospective cross-sectional study. Twelve individuals from a four-generation British pedigree underwent ophthalmic examination, genotyping using next generation sequencing,...

Genotype and Long-term Clinical Course of Bietti Crystalline Dystrophy in Korean and Japanese Patients

To investigate the genotype and long-term clinical phenotype of patients with Bietti crystalline dystrophy (BCD) in Korea and Japan. Retrospective case series. We analyzed 62 patients with clinical features of BCD who harbor pathogenic biallelic CYP4V2 variants in their homozygote or compound heterozygote. Data were collected from patient charts, including age, best-corrected visual acuity (BCVA), Goldmann perimetry results, fundus photography, OCT findings, fundus autofluorescence results, and electroretinography findings. We compared the clinical course of the patients with homozygous c.802-8_810de117insGC [exon7del], the most common mutation in the East Asian population, with those of the patients with other genotypes. Best-corrected visual acuity, visual field (VF), and their changes during follow-up. The mean age at the first visit was 55.2 years, with a mean follow-up of 7.1 years. The mean BCVAs at the first and last visits were 0.28 logarithm of the minimum angle of resolution (logMAR) and 0.89 logMAR, respectively. In genetic testing, c.802-8_810de117insGC was detected in 86 of 124 alleles of the patients, and 36 patients were homozygous for this mutation. The age, BCVA, VF area, central foveal thickness, and abnormal hypoautofluorescent area at either the first or last visit were not different between the exon7del homozygotes and the others. The mean BCVA changes per year were 0.089 logMAR in the exon7del homozygotes and 0.089 logMAR in the others. An age- and gender-adjusted linear regression analysis showed no association between the exon7del homozygote status and the rate of vision loss. Characteristic crystalline deposits in the posterior pole were generally observed in younger patients and disappeared over time along with progressive retinochoroidal atrophy. Patients with BCD and a homozygote for c.802-8_810de117insGC accounted for more than 50% of this cohort of Korean and Japanese patients, and the clinical effect of this deleterious variant was not severe in the spectrum of CYP4V2 retinopathy.

Surgical Transplantation of Human RPE Stem Cell-Derived RPE Monolayers into Non-Human Primates with Immunosuppression.

SummaryRecent trials of retinal pigment epithelium (RPE) transplantation for the treatment of disorders such as age-related macular degeneration have been promising. However, limitations of existing strategies include the uncertain survival of RPE cells delivered by cell suspension and the inherent risk of uncontrolled cell proliferation in the vitreous cavity. Human RPE stem cell-derived RPE (hRPESC-RPE) transplantation can rescue vision in a rat model of retinal dystrophy and survive in the rabbit retina for at least 1 month. The present study placed hRPESC-RPE monolayers under the macula of a non-human primate model for 3 months. The transplant was able to recover in vivo and maintained healthy photoreceptors. Importantly, there was no evidence that subretinally transplanted monolayers underwent an epithelial-mesenchymal transition. Neither gliosis in adjacent retina nor epiretinal membranes were observed. These findings suggest that hRPESC-RPE monolayers are safe and may be a useful source for RPE cell replacement therapy.

Retinal Pigment Epithelium Atrophy in Recessive Stargardt Disease as Measured by Short-Wavelength and Near-Infrared Autofluorescence.

PurposeTo compare the detection of retinal pigment epithelium (RPE) atrophy in short-wavelength (SW-AF) and near-infrared autofluorescence (NIR-AF) images in Stargardt disease (STGD1) patients.MethodsSW-AF and NIR-AF images (115 eyes from 115 patients) were analyzed by two independent graders. Hypoautofluorescent (hypoAF) areas, indicative of RPE atrophy, were measured, and the two modalities were compared.ResultsPatients were segregated into four groups: nascent (6 [5%]), widespread (21 [18%]), discrete (55 [48%]), and chorioretinal atrophy (33 [29%]). The areas of hypoAF were larger in NIR-AF compared to SW-AF images in discrete (3.9 vs. 2.2 mm2, P < 0.001) and chorioretinal atrophy (12.7 vs. 11.4 mm2, P = 0.015). Similar findings were observed qualitatively in nascent and widespread atrophy patients. Using the area linear model (ALM), lesion area increased at similar rates in SW-AF and NIR-AF images of discrete atrophy (0.20 vs. 0.32 mm2/y, P = 0.275) and chorioretinal atrophy (1.30 vs. 1.74 mm2/y, P = 0.671). Using the radius linear model (RLM), the lesion effective radius also increased similarly in SW-AF and NIR-AF images in discrete (0.03 vs. 0.05 mm2/y, P = 0.221) and chorioretinal atrophy (0.08 vs. 0.10 mm2/y, P = 0.754) patients.ConclusionsNIR-AF reveals a larger area of RPE atrophy in STGD1 patients compared to SW-AF images, but rates of lesion enlargement in the two modalities are similar.Translational RelevanceMeasurements of RPE atrophy by AF imaging are crucial for monitoring STGD1 disease progression and given our findings we advocate greater use of NIR-AF for patients.

Long-Term Progression of Pericentral Hydroxychloroquine Retinopathy

To investigate the long-term progression of pericentral hydroxychloroquine retinopathy. Multicenter, retrospective cohort study. Eighty eyes (60 with pericentral pattern) of 41 Korean patients with hydroxychloroquine retinopathy followed up for 2 years or more after drug cessation. Patients were screened for hydroxychloroquine retinopathy using spectral-domain or swept-source OCT, fundus autofluorescence (FAF), and Humphrey visual field (VF) tests. Follow-up was divided into short-term (≤2 years) and subsequent periods, and progression was evaluated in each period and severity group. Retinopathy progression on OCT was defined as increased length of the ellipsoid zone defect, decreased distance from the fovea to the photoreceptor defects, or newly developed or enlarged retinal pigment epithelium defects. On FAF, progression was defined as an increase in the area of hyperautofluorescence or hypoautofluorescence. Functional progression was defined as a regression coefficient of less than 0 dB/year for mean deviation and more than 0 dB/year for pattern standard deviation, based on linear regression analysis of 3 or more VF tests. Structural and functional progression rates were calculated using the slopes of retinal thicknesses on the Early Treatment Diabetic Retinopathy Study grid and perimetric parameters over time, respectively. Structural and functional progression of retinopathy. Approximately one third of eyes with early pericentral retinopathy showed limited progression during the short-term period after drug cessation, but they subsequently showed stable or improved photoreceptors. Most eyes with moderate pericentral retinopathy showed continuous progression, particularly when converted to the severe stage. Severe eyes showed progressive damage throughout the follow-up period. In all severity groups, the rates of retinal thinning decreased over time. In eyes with pericentral retinopathy showing progression, circumferential enlargement of retinal damage was prominent in earlier stages, whereas centripetal enlargement of the ring-shaped lesion was noted in advanced stages. Functional progression, noted in 58.7% of the pericentral eyes, corresponded with structural progression. Pericentral hydroxychloroquine retinopathy showed severity-dependent progression. Moderate pericentral retinopathy usually progressed, but centripetal progression threatening the fovea was remarkable mostly in severe retinopathy. Our results suggest that early detection of retinopathy may minimize the risk of progression to foveal involvement in pericentral retinopathy.

Comparative Assessment of Widefield Fundus Autofluorescence Patterns in Retinoschisis and Retinal Detachment.

This article characterizes widefield fundus autofluorescence (WF-FAF) patterns in retinoschisis (RS), retinal detachment (RD), and combined retinoschisis-detachment (RS/RD), and to correlate them with spectral-domain optical coherence tomography (SD-OCT) findings. A retrospective case series of 13 eyes with senile RS, RD, or RS/RD is presented. One eye underwent imaging of 2 areas within the retina, resulting in 14 data points. Independent, masked graders classified pathology on SD-OCT as RS, RD, or RS/RD and graded WF-FAF images for either hypoautofluorescent areas or mixed autofluorescence (AF) (hyper-AF, iso-AF, hyper-AF with hypo-AF, hyper-AF with iso-AF, or hypo-AF with iso-AF). There was no statistically significant correlation between the autofluorescence pattern and the type of retinal abnormality (P = .74). High variability was found in the characterization of WF-FAF in patients with RS and RD. SD-OCT remains the criterion-standard imaging modality in distinguishing RS from RD in clinically ambiguous cases.

Pigmented paravenous retinochoroidal atrophy associated with Vogt-Koyanagi-Harada disease: a case report

BackgroundTo describe a unique case of pigmented paravenous retinochoroidal atrophy that developed several years after Vogt-Koyanagi-Harada disease.Case presentationA 28-year-old woman presented with gradual vision loss in both eyes and nyctalopia for 2 years. Past medical history was relevant for Vogt-Koyanagi-Harada disease since the age of 19 and positive HLA-DR4. Funduscopic examination revealed perivascular pigmentary clumping and atrophic changes radiating from the optic disks. Spectral domain optical coherence tomography through the macula demonstrated perifoveal outer retinal layers loss with cystic degeneration. Fundus autofluorescence showed zonal areas of hypoautofluorescence corresponding to the areas of atrophy. Full-field electroretinogram identified mildly reduced scotopic and photopic responses. The patient was diagnosed with pigmented paravenous retinochoroidal atrophy.ConclusionsPigmented paravenous retinochoroidal atrophy may be acquired after Vogt-Koyanagi-Harada disease. Pathogenesis of pigmented paravenous retinochoroidal atrophy may involve inflammatory-related precursors on a background of genetic predisposition.

Deep Phenotyping of PDE6C-Associated Achromatopsia.

PurposeTo perform deep phenotyping of subjects with PDE6C achromatopsia and examine disease natural history.MethodsEight subjects with disease-causing variants in PDE6C were assessed in detail, including clinical phenotype, best-corrected visual acuity, fundus autofluorescence, and optical coherence tomography. Six subjects also had confocal and nonconfocal adaptive optics scanning light ophthalmoscopy, axial length, international standard pattern and full-field electroretinography (ERG), short-wavelength flash (S-cone) ERGs, and color vision testing.ResultsAll subjects presented with early-onset nystagmus, decreased best-corrected visual acuity, light sensitivity, and severe color vision loss, and five of them had high myopia. We identified three novel disease-causing variants and provide phenotype data associated with nine variants for the first time. No subjects had foveal hypoplasia or residual ellipsoid zone (EZ) at the foveal center; one had an absent EZ, three had a hyporeflective zone, and four had outer retinal atrophy. The mean width of the central EZ lesion on optical coherence tomography at baseline was 1923 μm. The mean annual increase in EZ lesion size was 48.3 μm. Fundus autofluorescence revealed a central hypoautofluorescence with a surrounding ring of increased signal (n = 5). The mean hypoautofluorescent area at baseline was 3.33 mm2 and increased in size by a mean of 0.13 mm2/year. Nonconfocal adaptive optics scanning light ophthalmoscopy revealed residual foveal cones in only one of two cases. Full-field ERGs were consistent with severe generalized cone system dysfunction but with relative preservation of S-cone sensitivity.ConclusionsPDE6C retinopathy is a severe cone dysfunction syndrome often presenting as typical achromatopsia but without foveal hypoplasia. Myopia and slowly progressive maculopathy are common features. There are few (if any) residual foveal cones for intervention in older adults.

Sector Retinitis Pigmentosa and a Novel Rhodopsin Point Mutation—Case Series

Purpose: This article describes the clinical features and differential diagnosis of 4 cases of sector autosomal dominant (AD) retinitis pigmentosa (RP) studied with multimodal imaging, using autofluorescence (AF) imaging as a key diagnostic tool. Methods: The current study is an observational case series of 4 patients with characteristic visual field (VF) defects. Ophthalmic examination, VF testing, spectral-domain optical coherence tomography (SD-OCT), electrodiagnostic tests (EDTs), AF imaging, and genetic testing were performed in the 8 eyes of 4 patients (1 female and 3 male). Results: In all 4 cases, fundus examination revealed retinal pigment epithelial changes mainly in the inferotemporal retinal quadrant. The optic discs looked healthy, with no evidence of glaucomatous neuropathy. In each case, AF showed a bilateral, well-demarcated, leaf-like perivascular area of patchy hypoautofluorescence surrounded by a halo of hyperautofluorescence. SD-OCT over the leaf-like area confirmed that the interdigitation zone, ellipsoid zone, external limiting membrane, and outer nuclear layer were all affected. The EDT results varied among patients but confirmed involvement of both rods and cones in 1 patient. Genetic testing confirmed the diagnosis of AD-RP with a mutation in RHO c.491c&gt;Tp.(Ala164Val) in all 3 male patients, and a new mutation c.66C&gt;Ap.(Ser22Arg) in the female patient. Conclusions: AF is a fundamental diagnostic tool in both the diagnosis and follow-up of sector RP. We recommend that ophthalmologists perform AF as an adjunctive diagnostic test in cases of unexplained VF defects.

TOXIC EFFECTS OF HYDROXYCHLOROQUINE ON THE CHOROID: Evidence From Multimodal Imaging.

To investigate the choroidal changes that occur in hydroxychloroquine (HCQ) retinopathy using multimodal imaging including fluorescein angiography, indocyanine green angiography, and optical coherence tomography (OCT) angiography and to correlate these changes with retinal findings obtained using OCT and fundus autofluorescence. In 20 patients (n = 40 eyes) with systemic lupus erythematosus or rheumatoid arthritis diagnosed to have HCQ retinopathy, imaging modalities including swept-source OCT, fundus autofluorescence, fluorescein angiography, indocyanine green angiography, and OCT angiography were used to evaluate retinal and choroidal changes associated with retinopathy. The assessments included specific findings such as presence of hyperfluorescent or hypofluorescent lesions on angiography and signal void zones on OCT angiography, their frequencies, and the correlations among the retinal and choroidal findings. These findings were also correlated with the severity of retinopathy. Retinopathy progression was defined using fundus autofluorescence and OCT and correlated with the retinal/choroidal findings. Fluorescein angiography demonstrated a hyperfluorescent area, which reflects a defective retinal pigment epithelium, with multiple tiny dark spots within the area. Indocyanine green angiography showed a hypofluorescent area with dark spots, which was matched to the hypoautofluorescent area on fundus autofluorescence. Although there were no specific morphologic abnormalities in the choroid layers using en face choroidal imaging, OCT angiography demonstrated signal void areas on the choriocapillaris in the areas of the retinal pigment epithelium defect. Even after cessation of HCQ, there was progression of retinopathy in eyes with choroidal involvement, particularly on the area of choroidal findings. Multimodal imaging demonstrates choriocapillaris degeneration in eyes with HCQ retinopathy, particularly those with severe retinopathy. The choroidal change was associated with outer retinal toxicity of HCQ.

Atrophy in Neovascular Age-Related Macular Degeneration: Age-Related Eye Disease Study 2 Report Number 15

To identify the development and progression of macular retinal pigment epithelial atrophy in eyes with neovascular (CNV) age-related macular degeneration (AMD) and to correlate with visual acuity (VA). Cohort study. Age-Related Eye Disease Study 2 (AREDS2) participants with intermediate AMD enrolled in a randomized controlled clinical trial of oral supplements. Analyses were conducted in the subset of AREDS2 participants who were also enrolled in the fundus autofluorescence ancillary (FAF) ancillary study. Color photographs and FAF images were evaluated in eyes that developed CNV. Presence of geographic atrophy (GA) prior to the incidence of CNV and the development of macular atrophy following incident CNV were assessed. Areas of hypoautofluorescence representing atrophy were measured for area and macular involvement. Enlargement rate of atrophy and change in visual acuity over time were analyzed. incidence and enlargement rate of atrophy and VA changes in eyes with incident CNV. Incident CNV developed in 334 (9.2%) of eyes evaluated in the AREDS2 FAF substudy. Of these, 40% had macular atrophy at incidence of CNV with half of these attributable to pre-existing GA. Atrophy developed in 14.7 % of eyes over 4 years of follow-up. Mean area of atrophy was largest in eyes with pre-existing GA and CNV (5.17 mm2, p<0.001), and atrophy involved the center of the macula in > 65% of eyes. Mean VA letter score at the annual visit in which CNV was documented was similar in the three groups with atrophy; eyes with CNV and pre-existing GA, incident atrophy at the first visit with CNV, and atrophy during follow up (60 letters). Enlargement rate of atrophy was also similar in eyes in the three groups (1.23 - 1.86 mm2, p = 0.47). Eyes with macular atrophy lost more visual acuity compared to eyes without atrophy, particularly after 2 years of follow-up (-10.9 vs. - 3.6 letters, p = 0.07). Atrophy is commonly seen in neovascular AMD and often can be attributed to pre-existing GA. Macular atrophy and GA appear to be a continuum of the same disease process and are both associated with poor vision.