Foveal Atrophy Research Articles

Stargardt disease phenotype‐genotype correlation – first results of a Lithuanian cohort study

PurposeTo describe the first phenotype‐genotype correlation results of the patients with Stargardt disease in Lithuanian population.MethodsFrom May 2015 till April 2016 a prospective study was performed, 16 patients with Stargardt disease were involved. Ophthalmological examination included best‐corrected visual acuity (BCVA), ophthalmoscopy, fundus photography, fundus autofluorescence (FAF), spectral‐domain optical coherence tomography (SD‐OCT) and specular microscopy. Different DNA variants in several genes have been identified for all patients.ResultsThe age of patients ranged from 18 to 66 years. Initial ophthalmoscopy revealed either no abnormalities or foveal retinal pigment epithelium (RPE) changes, foveal atrophy, atrophic RPE lesions, and/or irregular yellow‐white fundus flecks. Different FAF patterns were observed: central atrophy surrounded by ring of increased AF, irregular hypo/hyper AF or spots of hypo AF in the posterior pole. SD‐OCT revealed photoreceptor damage followed by atrophy of the outer retina, RPE, and choroid. The mean central retinal thickness of the right eye was 96.5 ± 57.004 μm and 110.9245 ± 54.84872 of the left eye. The mean subfoveal choroidal thickness, the endothelial cell count and corneal thickness were also evaluated.ConclusionsThese are the first results of Stargadt disease in Lithuanian population. All patients had a different phenotypic expression. Further investigations conserning individual mutations contribution to phenotype are necessary.

Clinical Characteristics, Choroidal Neovascularization, and Predictors of Visual Outcomes in Acquired Vitelliform Lesions

To quantify the temporal properties of the acquired vitelliform lesion (AVL) life cycle, define the clinical characteristics of choroidal neovascularization (NV) in this setting, and determine the predictors of long-term visual outcomes. Retrospective cohort study. Clinical and imaging data from 199 eyes of 124 consecutive patients with AVLs associated with age-related macular degeneration (AMD) and adult-onset foveomacular vitelliform dystrophy (AOFVD) were analyzed. Volumetric calculations of vitelliform material were determined using spectral-domain optical coherence tomography and the temporal properties of the AVL life cycle were quantified. The clinical characteristics of NV were assessed, as were the predictors of final best-corrected visual acuity (BCVA) and change in BCVA. Mean age was 79.2 ± 12.1 years. AVLs grew and collapsed at approximately the same rate (P= .275). Fifteen eyes (7.5%) developed NV, of which all were type 1. In 13 of these eyes, NV occurred during the collapse phase of the AVL life cycle, after the peak AVL volume was reached. The risk of NV (P= .006) and the decline in BCVA (P= .001) were both significantly greater among eyes with AMD. Foveal atrophy was the characteristic most significantly associated with final BCVA and change in BCVA from baseline (both P < .0005). The development of NV was not predictive of long-term visual outcomes (all P= .216). Complications associated with AVLs typically occur during the collapse phase of the AVL life cycle. Visual outcomes and risk of NV are related to the underlying disease associated with AVLs.

Intravitreal ranibizumab for retinal arterial macroaneurysm: long-term results of a prospective study.

To evaluate the potential efficacy and safety of primary intravitreal ranibizumab in patients with symptomatic retinal arterial macroaneurysm (RAM). This prospective study comprised 5 eyes with RAM treated with intravitreal ranibizumab. At baseline, all patients underwent best-corrected visual acuity (BCVA) measurement, ophthalmic examination including slit-lamp biomicroscopy, and central foveal thickness (CFT) measurement using optical coherence tomography. Fluorescein angiography was also performed to confirm diagnosis. Patients were examined at 1 month after injection and monthly thereafter. Main outcome measures included changes in BCVA and CFT. Safety was assessed by ophthalmic examination and report of systemic adverse effects. There was a statistically significant difference in BCVA (p<0.001) and CFT (p<0.001) before and after the ranibizumab injection at the end of the follow-up of 13.4 ± 3.2 months. One injection appeared to be sufficient for the resolution of macular edema and absorption of hemorrhages. No observable ocular or systemic side effects were found. One patient developed foveal atrophy. Intravitreal ranibizumab seems to be effective and safe for the treatment of symptomatic RAM.

Macular Bruch Membrane Holes in Highly Myopic Patchy Chorioretinal Atrophy

Patchy atrophy is a type of chorioretinal atrophy located outside of the fovea in eyes with myopic retinopathy. Bruch membrane defects have previously been described to occur in highly myopic eyes in foveal chorioretinal atrophy associated with choroidal neovascularization (CNV). We examined whether Bruch membrane defects can be found also in patchy atrophy. Retrospective observational case series. The study included all patients who were consecutively examined for high axial myopia (axial length ≥26.5mm) and patchy atrophy in the study period from September to November 2015. The patients underwent a comprehensive ophthalmologic examination including swept-source optical coherence tomography (OCT) of the macula. Main outcome measures were macular Bruch membrane defects. Out of 22 eyes (17 patients) with patchy atrophy, 21 eyes (96%) showed macular Bruch membrane defects, which were characterized by a lack of Bruch membrane, retinal pigment epithelium (RPE), photoreceptors, and choriocapillaris. At the edges of the macular Bruch membrane defects, the ends of the Bruch membrane were folded and the RPE was upturned. The inner retina overlying the area of the Bruch membrane defect was markedly thinned. Macular Bruch membrane defects belong to the hallmarks of a type of myopic chorioretinal atrophy not associated with CNV (ie, patchy atrophy). Considering that Bruch membrane defects were also observed in myopic CNV-related foveal atrophy, macular Bruch membrane defect might be a common finding infundus lesions related to pathologic myopia.

Treatment for Macular Telangiectasia Type 2.

Macular telangiectasia (MacTel) type 2 is a bilateral disease of unknown cause with localized retinal degeneration and characteristic changes of the retinal vasculature. Funduscopic findings include reduced retinal transparency, crystalline deposits, ectatic capillaries, blunted venules, retinal pigment plaques, foveal atrophy and neovascular complexes. Leakage of telangiectatic macular capillaries is a characteristic finding on fluorescein angiography, and neurosensory atrophy may be present on optical coherence tomography images. Furthermore, there is a specific depletion of macular pigment in the central retina. Depending on the development of neovascular membranes, a nonproliferative and a proliferative (neovascular) disease stage may be distinguished. To date, there is no evidence for an effective treatment of nonproliferative MacTel type 2. Patients with proliferative MacTel type 2 and hence decreasing visual function may benefit from intravitreal application of vascular endothelial growth factor inhibitors. Early treatment and a small size of the neovascular membrane might be predictive factors for visual function outcome.

Macular surgical diseases in myopia

SummaryMacular surgical diseases in myopia are consecutive to vitreoretinal interface disorders associated to stretching forces due to staphyloma on the other side. OCT have largely contributed to the recognition and the understanding of vitreoretinal interface disorders occuring in myopic condition: epiretinal membrane alone or associated to foveoschisis, lamellar or full thickness macular hole and posterior retinal detachment. Surgical management by vitrectomy associated or not to ILM peeling will be discussed according to myopic disorders. Main surgical complications are macular hole formation and foveal atrophy. Fovea‐sparing internal limiting membrane peeling for myopic traction maculopathy may represent an alternative option to avoid these complications. Scleral buckling surgery associated to vitrectomy may represent an other option under investigation.

Quantitative Fundus Autofluorescence and Optical Coherence Tomography inPRPH2/RDS- andABCA4-Associated Disease Exhibiting Phenotypic Overlap

To assess whether quantitative fundus autofluorescence (qAF), a measure of RPE lipofuscin, and spectral-domain optical coherence tomography (SD-OCT) can aid in the differentiation of patients with fundus features that could either be related to ABCA4 mutations or be part of the phenotypic spectrum of pattern dystrophies. Autofluorescence images (30°, 488-nm excitation) from 39 patients (67 eyes) were acquired with a confocal scanning laser ophthalmoscope equipped with an internal fluorescent reference and were quantified as previously described. In addition, horizontal SD-OCT images through the fovea were obtained. Patients were screened for ABCA4 and PRPH2/RDS mutations. ABCA4 mutations were identified in 19 patients (mean age, 37 ± 12 years) and PRPH2/RDS mutations in 8 patients (mean age, 48 ± 13 years); no known ABCA4 or PRPH2/RDS mutations were found in 12 patients (mean age, 48 ± 9 years). Differentiation of the groups using phenotypic SD-OCT and AF features (e.g., peripapillary sparing, foveal sparing) was not reliable. However, patients with ABCA4 mutations could be discriminated reasonably well from other patients when qAF values were corrected for age and race. In general, ABCA4 patients had higher qAF values than PRPH2/RDS patients, while most patients without mutations in PRPH2/RDS or ABCA4 had qAF levels within the normal range. The high qAF levels of ABCA4-positive patients are a hallmark of ABCA4-related disease. The reason for high qAF among many PRPH2/RDS-positive patients is not known; higher RPE lipofuscin accumulation may be a primary or secondary effect of the PRPH2/RDS mutation.

Long-Term Results of Full Macular Translocation for Choroidal Neovascularization in Age-Related Macular Degeneration

To investigate the long-term outcome of full macular translocation (FMT) for neovascular age-related macular degeneration (AMD) and to identify predictive factors. Retrospective, uncontrolled case series. Patients were considered for FMT if they had low vision in the fellow eye and choroidal neovascularization (CNV) along with (1) no response to vascular endothelial growth factor (VEGF) inhibitors, (2) retinal pigment epithelium (RPE) tear, (3) subretinal hemorrhage, (4) foveal scar tissue of recent onset, or (5) CNV before the availability of VEGF inhibitors. From 2004 through 2012, a total of 255 patients underwent FMT. Exclusion criteria were patients younger than 60 years, FMT for disease other than AMD, and a follow-up of less than 12 months. Preoperative, annual, and last distance best-corrected visual acuity (BCVA) were obtained retrospectively from patient files. Complications were recorded using funduscopy, optical coherence tomography, autofluorescence, and angiography. Distance BCVA at 1 year and 5 years after surgery and at last visit compared with preoperative BCVA. One hundred fifty-eight patients (mean follow-up, 45 months) were included. Median BCVA improved from 0.90 logarithm of the minimum angle of resolution (logMAR) before surgery to 0.70 logMAR 1 year after FMT (2 lines gained; P = 0.000). In a subgroup of 56 patients followed up for 5 years or more, median BCVA improved from 0.95 logMAR before surgery to 0.70 logMAR 1 year after surgery, and remained improved 5 years after FMT with a median BCVA of 0.80 logMAR (1.5 lines gained compared with preoperative BCVA; P = 0.000). The main complications were foveal RPE atrophy (n = 73; 47%) and CNV recurrence (n = 47; 30%). Foveal RPE atrophy (odds ratio [OR], 7.0), CNV recurrence (OR, 2.6), and proliferative vitreoretinopathy (PVR; OR, 17.6) were statistically significant predictors (P < 0.05) for losing 1 line or more at last visit. In this study, BCVA was improved up to 5 years after FMT. Foveal RPE atrophy, CNV recurrence, and PVR carried a worse prognosis. In patients who are unlikely to benefit from VEGF inhibitors, FMT can be considered for second eyes with neovascular AMD.

Segmentation of Retinal Layers in Sjögren–Larsson Syndrome

Segmentation of Retinal Layers in Sjögren–Larsson Syndrome

Multimodality imaging in macular telangiectasia 2: A clue to its pathogenesis.

Macular telangiectasia type 2 also known as idiopathic perifoveal telangiectasia and juxtafoveolar retinal telangiectasis type 2A is an acquired bilateral neurodegenerative macular disease that manifests itself during the fifth or sixth decades of life. It is characterized by minimal dilatation of the parafoveal capillaries with graying of the retinal area involved, a lack of lipid exudation, right-angled retinal venules, refractile deposits in the superficial retina, hyperplasia of the retinal pigment epithelium, foveal atrophy, and subretinal neovascularization (SRNV). Our understanding of the disease has paralleled advances in multimodality imaging of the fundus. Optical coherence tomography (OCT) images typically demonstrate the presence of intraretinal hyporeflective spaces that are usually not related to retinal thickening or fluorescein leakage. The typical fluorescein angiographic (FA) finding is a deep intraretinal hyperfluorescent staining in the temporal parafoveal area. With time, the staining may involve the whole parafoveal area but does not extend to the center of the fovea. Long-term prognosis for central vision is poor, because of the development of SRNV or macular atrophy. Its pathogenesis remains unclear but multimodality imaging with FA, spectral domain OCT, adaptive optics, confocal blue reflectance and short wave fundus autofluorescence implicate Müller cells and macular pigment. Currently, there is no known treatment for this condition.

Early-Onset Stargardt Disease: Phenotypic and Genotypic Characteristics

To describe the phenotype and genotype of patients with early-onset Stargardt disease. Retrospective cohort study. Fifty-one Stargardt patients with age at onset ≤10 years. We reviewed patient medical records for age at onset, medical history, initial symptoms, best-corrected visual acuity (BCVA), ophthalmoscopy, fundus photography, fundus autofluorescence (FAF), fluorescein angiography (FA), spectral-domain optical coherence tomography (SD-OCT), and full-field electroretinography (ffERG). The ABCA4 gene was screened for mutations. Age at onset, BCVA, fundus appearance, FAF, FA, SD-OCT, ffERG, and presence of ABCA4 mutations. The mean age at onset was 7.2 years (range, 1-10). The median times to develop BCVA of 20/32, 20/80, 20/200, and 20/500 were 3, 5, 12, and 23 years, respectively. Initial ophthalmoscopy in 41 patients revealed either no abnormalities or foveal retinal pigment epithelium (RPE) changes in 10 and 9 patients, respectively; the other 22 patients had foveal atrophy, atrophic RPE lesions, and/or irregular yellow-white fundus flecks. On FA, there was a "dark choroid" in 21 out of 29 patients. In 14 out of 50 patients, foveal atrophy occurred before flecks developed. On FAF, there was centrifugal expansion of disseminated atrophic spots, which progressed to the eventual profound chorioretinal atrophy. Spectral-domain OCT revealed early photoreceptor damage followed by atrophy of the outer retina, RPE, and choroid. On ffERG in 26 patients, 15 had normal amplitudes, and 11 had reduced photopic and/or scotopic amplitudes at their first visit. We found no correlation between ffERG abnormalities and the rate of vision loss. Thirteen out of 25 patients had progressive ffERG abnormalities. Finally, genetic screening of 44 patients revealed ≥2 ABCA4 mutations in 37 patients and single heterozygous mutations in 7. In early-onset Stargardt, initial ophthalmoscopy can reveal no abnormalities or minor retinal abnormalities. Yellow-white flecks can be preceded by foveal atrophy and may be visible only on FAF. Although ffERG is insufficient for predicting the rate of vision loss, abnormalities can develop. Over time, visual acuity declines rapidly in parallel with progressive retinal degeneration, resulting in profound chorioretinal atrophy. Thus, early-onset Stargardt lies at the severe end of the spectrum of ABCA4-associated retinal phenotypes.

Morphological changes of photic maculopathy in fourier-domain optical coherence tomography

Objective To investigate the morphological changes of photic maculopathy detected by fourier-domain optical coherence tomographic (FD-OCT).Methods In this retrospective study,11 eyes of 7 patients with photic maculopathy were examined by FD-OCT,including 2 eyes with solar retinopathy,6 eyes with welding arc maculopathy,and 3 eyes with laser injury.The dilated funduscopic and photographic examination were performed in all patients.Multifocal electroretinogram (mfERG) was performed in some patients.Results The foveal pathology was identified in all 11 eyes (7 patients).The visual acuity ranged from 0.04 to 1.0.FD-OCT demonstrated foveal atrophy associated with a characteristic defect at the level of the inner and outer segment junction of cone cell in 7 affected eyes,hyporeflective space beween the outer retinal and retinal pigment epithelium (RPE) layers in 3 eyes,and macular hole in 1 eye.FD-OCT even revealed the localized defect area lay not only in IS/OS layer but also in connecting of outer segment and pigment process of RPE.Conclusion FD-OCT can detect foveal morphological changes and characteristic defects at the photoreceptor-RPE junction in photic retinopathy. Key words: Maculopathy, photic; Tomography, optical coherence, fourier-domain

Comparison of Retinal Nerve Fiber Layers in Patients with Non-Neovascular Age-Related Macular Degeneration and Normal Controls

Purpose: In neovascular age-related macular degeneration (AMD), it is reported that retinal nerve fiber layer (RNFL) thickness becomes gradually thinner due to degeneration of the outer retinal layer. To our knowledge, there is no previous report regarding RNFL thickness in patients with non-neovascular AMD. Therefore, in this study, we compared RNFL thickness in patients with non-neovascular AMD and normal controls. Methods: Thirty-one eyes with AMD category 3a (AREDS research group), 11 eyes suffering foveal geographic atrophy AMD category 4a, and 31 age-matched normal eyes were evaluated. In every group, regional RNFL thickness (General, Temporal, Superotemporal, Superonasal, Superior, Nasal, Inferonasal, Inferotemporal, and Inferior) was measured using spectral domain optical coherence tomography (SD-OCT). Results: There were no significant differences in age or intraocular pressure among the 3 groups. The mean best corrected visual acuity (BCVA) (log MAR) of the category 4a group was significantly decreased compared to those of the other 2 groups. The mean RNFL thickness in total area in the category 3a group, category 4a group, and normal control group was 99.5 ± 14.0 μm, 99.3 ± 9.4 μm, and 99.4 ± 9.6 μm, respectively. The difference was not statistically significant. No other regional mean values of RNFL thickness in the three groups were significantly different. Conclusions: There was no significant difference in RNFL thickness between non-neovascular patients and the control group. J Korean Ophthalmol Soc 2014;55(9):1334-1339

Ultra-high resolution optical coherence tomography analysis of bull's eye maculopathy in chloroquine users

Purpose: Register and compare anatomical changes, structural and quantitative found in optical coherence tomography Stratus and Topcon 3D in chronic users of chloroquine. Methods: Five patients were diagnosed with toxic bull's eye maculopathy was submitted to macular optical coherence tomography examination (Stratus and Topcon 3D). Results: Both tools demonstrated an increase reflectivity of choriocapillaris unit just foveal retinal pigment epithelium atrophy. However, Topcon 3D provided to all patients better description of the line corresponding to the transition between inner and outer segments of photoreceptors. Using the possibility of assembling threedimensional images and subtraction selective retinal layers, we found a lesion with a target that reflects the greater thickness of retinal pigment epithelium in central and parafoveal region that is matched to preserve macular photoreceptors. Conclusion: it was observed better resolution and faster image capture by Topcon 3D than Stratus OCT, that provided more detailed analysis of the line corresponding to transition between outer and inner segment of photoreceptors in macular region. With Topcon 3D, it was possible to evaluate soundly the thickness of retinal pigment epithelium in central and parafoveal region that caused an increase reflectivity of choriocapillaris creating a image with a target unpublished before.

Factors affecting visual outcomes in patients with diabetic macular edema treated with ranibizumab

To identify factors associated with visual outcomes in patients with diabetic macular edema (DME) treated with ranibizumab (RBZ) in the Ranibizumab for Edema of the mAcula in Diabetes-Protocol 2 (READ-2) Study. Optical coherence tomography scans, fundus photographs, and fluorescein angiograms (FAs) were graded and along with baseline characteristics were correlated with month (M) 24 visual outcome of best-corrected visual acuity (BCVA) ≤20/100 (poor outcome) vs >20/100 (better outcome). Of 101 patients with a M20 visit or beyond, 27 (27%) had BCVA ≤20/100. Comparison of patients with or without poor outcome showed mean baseline BCVA of 16.8 letters (20/125) in the former compared with 30.4 letters (20/63; P<0.001). Mean change in BCVA between baseline and M24 was -2.6 letters in the poor outcome group compared with +9.8 letters (P<0.001). Foveal thickness (FTH) at M24 was 374.1 μm in the poor outcome group compared with 268.8 μm (P<0.01), a difference driven by 14 patients with mean FTH of 450.3 μm. Foveal atrophy occurred in 65% (11/17) in the poor outcome group compared with 17%(12/71, P=0.001). Persistent edema was noted in 52% (14/27) of patients with poor outcome. Laser scars near foveal center were significantly more common in patients with poor outcome who did not have edema vs those who did (78% (7/9) vs 23% (3/13) P=0.03). Poor baseline BCVA (≤20/125) in DME patients predicts poor visual outcome (≤20/100) after 2 years of treatment with RBZ and/or focal/grid laser, often due to foveal atrophy and/or persistent edema.

Télangiectasies maculaires idiopathiques au cours d’une rectocolite hémorragique

Macular telangiectasia type 2 is a bilateral disease of unknown cause with characteristic alterations of the macular capillary network and neurosensory atrophy. Its prevalence may be underestimated and has recently been shown to be as high as 0.1% in persons 40 years and older. Biomicroscopy may show reduced retinal transparency, crystalline deposits, mildly ectatic capillaries, blunted venules, retinal pigment plaques, foveal atrophy, and neovascular complexes. Fluorescein angiography shows telangiectatic capillaries predominantly temporal to the foveola in the early phase and a diffuse hyperfluorescence in the late phase. High-resolution optical coherence tomography (OCT) may reveal disruption of the photoreceptor inner segment–outer segment border, hyporeflective cavities at the level of the inner or outer retina, and atrophy of the retina in later stages. Macular telangiectasia type 2 shows a unique depletion of the macular pigment in the central retina and recent therapeutic trials showed that such depleted areas cannot re-accumulate lutein and zeaxanthin after oral supplementation. There have been various therapeutic approaches with limited or no efficacy. Recent clinical trials with compounds that block vascular endothelial growth factor (VEGF) have established the role of VEGF in the pathophysiology of the disease, but have not shown significant efficacy, at least for the non-neovascular disease stages. Recent progress in structure–function correlation may help to develop surrogate outcome measures for future clinical trials.In this review article, we summarize the current knowledge on macular telangiectasia type 2, including the epidemiology, the genetics, the clinical findings, the staging and the differential diagnosis of the disease. Findings using retinal imaging are discussed, including fluorescein angiography, OCT, adaptive optics imaging, confocal scanning laser ophthalmoscopy, and fundus autofluorescence, as are the findings using visual function testing including visual acuity and fundus-controlled microperimetry. We provide an overview of the therapeutic approaches for both non-neovascular and neovascular disease stages and provide a perspective of future directions including animal models and potential therapeutic approaches.

Diagnostic Fundus Autofluorescence Patterns in Achromatopsia

To describe the unique diagnostic fundus autofluorescence (FAF) patterns in patients with achromatopsia and the associated findings on optical coherence tomography (OCT). Observational case series. We evaluated 10 patients with achromatopsia by means of best-corrected visual acuity (BCVA), ophthalmoscopy, Goldmann visual field, full-field electroretinography (ffERG), OCT, and FAF photography. FAF patterns were compared with patient age and foveal changes on OCT. Patients fell into two dichotomous age groups at the time of evaluation: six patients ranged from 11 to 23 years of age, and 3 patients ranged from 52 to 63 years of age. All patients had severely reduced photopic ffERG responses, including those exhibiting preserved foveal structure on OCT. The younger patients had absent to mild foveal atrophy on OCT, and four of the six demonstrated foveal and parafoveal hyperfluorescence on FAF. In addition, a 7-month-old child with compound heterozygous mutations in CNGA3 demonstrated similar foveal hyperfluorescence. The older patients demonstrated advanced foveal atrophy and punched-out foveal hypofluorescence with discrete borders on FAF imaging corresponding to the area of outer retinal cavitation on OCT. Foveal hyperfluorescence is an early sign of achromatopsia that can aid in clinical diagnosis. In our cohort, patients with achromatopsia demonstrated age-dependent changes in FAF, which are likely to be progressive and to correlate with foveal atrophy and cavitation on OCT. This finding may be useful in charting the natural course of the disease and in defining a therapeutic window for treatment.

Clinical and Molecular Analysis of Stargardt Disease With Preserved Foveal Structure and Function

To describe a cohort of patients with Stargardt disease who show a foveal-sparing phenotype. Retrospective case series. The foveal-sparing phenotype was defined as foveal preservation on autofluorescence imaging, despite a retinopathy otherwise consistent with Stargardt disease. Forty such individuals were ascertained and a full ophthalmic examination was undertaken. Following mutation screening of ABCA4, the molecular findings were compared with those of patients with Stargardt disease but no foveal sparing. The median age of onset and age at examination of 40 patients with the foveal-sparing phenotype were 43.5 and 46.5 years. The median logMAR visual acuity was 0.18. Twenty-two patients (22/40, 55%) had patchy parafoveal atrophy and flecks; 8 (20%) had numerous flecks at the posterior pole without atrophy; 7 (17.5%) had mottled retinal pigment epithelial changes; 2 (5%) had multiple atrophic lesions, extending beyond the arcades; and 1 (2.5%) had a bull's-eye appearance. The median central foveal thickness assessed with spectral-domain optical coherence tomographic images was 183.0 μm (n = 33), with outer retinal tubulation observed in 15 (45%). Twenty-two of 33 subjects (67%) had electrophysiological evidence of macular dysfunction without generalized retinal dysfunction. Disease-causing variants were found in 31 patients (31/40, 78%). There was a higher prevalence of the variant p.Arg2030Gln in the cohort with foveal sparing compared to the group with foveal atrophy (6.45% vs 1.07%). The distinct clinical and molecular characteristics of patients with the foveal-sparing phenotype are described. The presence of 2 distinct phenotypes of Stargardt disease (foveal sparing and foveal atrophy) suggests that there may be more than 1 disease mechanism in ABCA4 retinopathy.

Optical coherence tomography imaging in uveitis

Optical coherence tomography (OCT) is a non-contact noninvasive technique that allows in vivo imaging of the retina, choroid, optic nerve head, retinal nerve fiber layer, and the anterior structures of the eye. It was introduced into clinical practice two decades ago. Advances in OCT technology have been achieved by searching ultra-high-resolution OCT, adaptive optics OCT, eye-tracking OCT, and changes in signal detection technique from time-domain (TD) to spectral-domain (SD) detection. Today, SD OCT has become a part of routine uveitis practice. Apart from its diagnostic value in uveitis, OCT has enabled objective assessment of treatment response and provided predictive value for visual recovery and prognosis of uveitic entities. It is the standard diagnostic technique in the detection, monitoring of treatment, and determination of prognosis in uveitic macular edema as well as other inflammatory macular pathologies, including epiretinal membrane formation, vitreomacular traction, foveal atrophy, and lamellar/full-thickness macular holes. OCT has also shed light on the pathophysiology of several posterior uveitic entities. SD OCT has enabled visualization of four lines in the sensory retina which represent the external limiting membrane, the photoreceptor inner and outer segment junction, the photoreceptor outer segment and the retina pigment epithelium junction, and the retina pigment epithelium-choriocapillaris complex. Thus, we have gained substantial information about the pathologic and structural changes in uveitic conditions with primary or secondary outer retinal involvement. SD OCT has also provided invaluable information on the inner retinal and the vitreoretinal interface changes in uveitic conditions. With the introduction of enhanced depth imaging, visualization of the choroid and choriocapillaries has become possible. Therefore, OCT has become an indispensible ancillary test in the diagnosis and management of inflammatory diseases involving the retina and/or the choroid. As OCT technology continues to develop further it will provide new insights into the retinal and choroidal structure and the pathogenesis of posterior uveitic entities.

Subfoveal Fibrosis in Eyes With Neovascular Age-Related Macular Degeneration Treated With Intravitreal Ranibizumab

To assess baseline and follow-up characteristics of choroidal neovascularization (CNV) lesions in age-related macular degeneration in relation to the development of subfoveal subretinal fibrosis. Retrospective, observational case series. settings and study population: One hundred ninety-seven treatment-naïve eyes in 197 patients with CNV in age-related macular degeneration without subfoveal fibrosis at first presentation who were treated with ranibizumab in a pro re nata regimen. main outcome measure: Subfoveal fibrosis at the conclusion follow-up of 24months or fewer. The hazard ratio of any subfoveal fibrosis developing in eyes with predominantly classic CNV was 5.95 (95% confidence interval [CI], 3.25 to 10.90) compared with minimally classic and occult CNV, whereas the hazard ratio of fibrosis developing with foveal atrophy was 3.38 (95% CI, 1.47 to 7.81; mean follow-up, 1.80 years; 95% CI, 1.75 to 1.85 years). The hazard ratio of any fibrosis developing was 3.38 (95% CI, 1.10 to 10.38) in eyes with a baseline best-corrected visual acuity of 40 or worse using Early Treatment Diabetic Retinopathy Study letter scores, as compared with eyes with a baseline best-corrected visual acuity of 70 letters or more. An interval between diagnosis and treatment of 15days or more was associated with a hazard ratio of any fibrosis developing of 2.24 (95% CI, 1.28 to 3.94) as compared with an interval of fewer than 15days. Compared with eyes in which fibrosis did not develop, eyes in which prominent fibrosis or fibrosis developed with foveal atrophy lost 8.5 more Early Treatment Diabetic Retinopathy Study letters (95% CI,-1.0 to-15.9; P= .0242) and 10.3 more Early Treatment Diabetic Retinopathy Study letters (95% CI,-4.0 to-16.5; P= .0012), respectively. The development of subfoveal fibrosis in neovascular age-related macular degeneration was associated with predominantly classic CNV and poorer visual acuity at first presentation, a longer interval between diagnosis and treatment, and approximately 2 lines of additional visual loss at the conclusion follow-up.