Fundus Features Research Articles

Enhancement and restoration of non-uniform illuminated Fundus Image of Retina obtained through thin layer of cataract

Background and objectivesRetinal fundus images are extensively used in manually or without human intervention to identify and analyze various diseases. Due to the comprehensive imaging arrangement, there is a large radiance, reflectance and contrast inconsistency within and across images. MethodA novel method is proposed based on the cataract physical model to reduce the generated blurriness of the fundus image at the time of image acquisition through the thin layer of cataract by the fundus camera. After the blurriness reduction the method is proposed the enhancement procedure of the images with an objective on contrast perfection with no preamble of artifacts. Due to the uneven distribution of thickness of the cataract, the cataract surroundings are first predicted in the domain of frequency. Second, the resultant image of first step enhanced by the intensity histogram equalization in the adapted Hue Saturation Intensity (HSI) color image space such as the gamut problem can be avoided. The concluding image with suitable color and disparity is acquired by using the proposed max–min color correction approach. ResultsThe result indicates that not only the proposed method can more effectively enhanced the non-uniform image of retina obtain through thin layer of cataract, but also the resulting image show appropriate brightness and saturation and maintain complete color space information. The projected enhancement method has been tested on the openly available datasets and the result evaluated with the standard used image enhancement algorithms and the cataract removal method. Results show noticeable development over existing methods. ConclusionsCataract often prevents the clinician from objectively evaluating fundus feature. Cataract also affect subjective test. Enhancement and restoration of non-uniform illuminated Fundus Image of Retina obtained through thin layer of Cataract has shown here to be potentially beneficial.

NOVEL CLASSIFICATION SYSTEM FOR COMBINED HAMARTOMA OF THE RETINA AND RETINAL PIGMENT EPITHELIUM.

To develop an anatomical classification scheme for combined hamartoma of the retina and retinal pigment epithelium (RPE) and specify recommendations for follow-up interval. Retrospective review of patients with combined hamartoma of the retina and RPE examined during a 7-year period (2008-2015). The clinical presentation, fundus examination, and optical coherence tomography were analyzed. Lesions were classified based on location, fundus features, and optical coherence tomography findings. Lesion location: macular/peripapillary-Zone 1; mid-periphery-Zone 2; and far periphery-Zone 3. Associated fundus findings: no retinal traction-Stage 1; retinal traction and/or retinoschisis-Stage 2; and retinal detachment-Stage 3. Optical coherence tomography findings: epiretinal component only-A; partial retinal involvement-B; and complete retinal and RPE involvement-C. Complete ophthalmologic evaluation is recommended at least every 6 months for patients younger than 12 years, with more frequent follow-up in patients with: lesions in the macula/peripapillary (Zone 1) or with retinal traction, retinoschisis, or retinal detachment (Stage 2 and 3). Surgical intervention is recommended in patients with vision loss secondary to macular traction or retinal detachment. A new clinical classification system is proposed for evaluating and managing patients with combined hamartoma of the retina and RPE. The zone and stage of combined hamartoma of the retina and RPE lesion will assist in determining follow-up interval and surgical intervention. Application of a uniform classification scheme will facilitate assessment and comparison of findings across different studies.

Automatic extraction of vascularity measurements using OCT-A images

Optical Coherence Tomography Angiography (OCT-A) represents a new modality of ophthalmological imaging that stands out for being a non-invasive capture technique that facilitates the analysis of the vascular characteristics of the eye fundus. In this paper, we propose a complete automatic methodology that identifies the vascular and avascular zones in OCT-A images, quantifying each one of them for their posterior use in clinical analyses and diagnostic processes. To achieve this, we firstly intensify the vascular characteristics to facilitate the posterior extraction. Then, a set of image processing techniques are combined to differentiate both vascular and avascular regions and, finally, measure their representative parameters. The proposed methodology was tested on a set of images that were marked by an expert ophthalmologist, being used as reference in the validation of the method. The proposed approach presented satisfactory results in the validation experiments with the vascular and avascular measurements, demonstrating their utility for the diagnosis and monitoring of different vascular diseases that are frequently analysed through the retinal microcirculation.

Optical coherence tomography characteristics in eyes with optic disc pit with or without maculopathy

Purpose: The purpose of this study is to study the optical coherence tomography (OCT) characteristics of optic disc pit with or without maculopathy and to validate the mechanism of fluid passage from the optic disc pit to the macula. Materials and Methods: The medical records of 28 patients (28 eyes) with the diagnosis of optic disc pit were reviewed. Clinical features that were studied included the duration of visual impairment, initial visual acuity, and associated fundus features. OCT characteristics including the presence or absence of macular changes, communication with pit, layer (s) of retina involved in schisis, and presence of serous macular detachment (SMD) were noted. Results: The mean age of the patients was 35.32 years. The mean best-corrected visual acuity (BCVA) at presentation was 0.814 ± 0.684 (log of the minimum angle of resolution). Ten of the 28 eyes (35.7) had combined outer and inner layer schisis with no SMD, whereas 6 eyes (21.4%) had combined outer and inner layer schisis with SMD. Four eyes had outer layer schisis only and two eyes presented with outer layer schisis and subretinal fluid. One eye had inner layer schisis alone and one eye had atrophic macula with no schitic changes. Four eyes had no evidence of any maculopathy on OCT. Communication between the schitic cavity to the gap in the lamina cribrosa at the level of the optic pit could be demonstrated on enhanced depth imaging (EDI-OCT) in 14 eyes. The OCT characteristics between the eyes with BCVA >6/12 (Group A) and Conclusion: This study validates the hypothesis that cerebrospinal fluid could be the source of fluid in optic disc pit maculopathy as a communication could be demonstrated between the schitic cavity to gap in the lamina cribrosa could be demonstrated on EDI.

Fundus Image Segmentation and Feature Extraction for the Detection of Glaucoma: A New Approach

Fundus Image Segmentation and Feature Extraction for the Detection of Glaucoma: A New Approach

Medical Privacy Exposure on Fundus Vessel Extraction and Feature Matching

Medical Privacy Exposure on Fundus Vessel Extraction and Feature Matching

Choosing the wrong imaging modalities

SummaryThe diagnosis of uveitis often requires careful clinical examination of the peripheral retina. Ultra‐wide‐field angiography could prove useful in the clinical evaluation and treatment such patients. However, its use is often restricted to intermediate and posterior uveitis. There are instances in which ultra‐wide‐field FA can be paramount in evaluating the peripheral angiographic expression of the retina in anterior uveitis.Fundus autofluorescence (FAF) is a novel noninvasive imaging technique that assess the health and viability of the RPE/photoreceptor complex. Characteristic fundus autofluorescence patterns have been described in eyes affected by inflammation of the posterior segment, and these patterns have provided insights into the pathogenesis of posterior uveitis entities. In addition, preliminary data indicate that fundus autofluorescence characteristics may serve as markers of disease activity, allow prediction of visual prognosis, and may help determine the adequacy of therapy.Indocyanine green angiography (ICGA) provides the clinician with a powerful adjunctive tool in choroidal inflammatory disorders. It still needs to be determined if ICGA can prove to be a follow up parameter to evaluate disease progression.

Classification of polypoidal choroidal vasculopathy and its influencing factors

Polypoidal choroidal vasculopathy (PCV) is a fundus disease characterized by choroidal anomalous branch vascular network and terminal polypoidal dilatation. According to its fundus feature, lesion location, imaging feature and disease progression, PCV can be divided into different types or stages. It can be divided into hemorrhage and exudation PCV according to the fundus features, into macular, peripapillary, periphery and mixed types according to the lesion locations. It can also be divided into type 1 and 2 according to the ICGA (indocyanine green angiography) manifestations, and can be classified as early stage and late stage according to disease progression. There were different correlations between different types of PCV and some risk genetic loci, such as ARMS2 (age-related macular degeneration factor 2)/ HTRA1 (high temperature essential protein A1) , C2, complement factor B, complement factor H, and elastin genes. The response to therapy and prognosis are also different between different types. It is important to further study the clinical classification of PCV, to explore the genetic characteristics, influencing factors and treatment or prognosis features of different types of PCV. The results will improve the differential diagnosis of PCV, and the effectiveness of individualized treatment. Key words: Choroid diseases/classification; Choroid diseases/diagnosis; Choroid diseases/etiology; Editorial

Comparative analysis of ultra-wide-field fluorescein angiography and early treatment diabetic retinopathy study 7 standard field photography in diabetic retinopathy

Objective To observe the ocular fundus features and consistency of classification of diabetic retinopathy (DR) by ultra-wide-field fluorescein angiography (UWFA) and the simulated early treatment diabetic retinopathy study (ETDRS) 7 standard field (7SF) imaging. Methods This is a retrospective clinical description study. Ninety-six eyes of 55 DR patients were included. The ages ranged from 25 to 73 years, with a mean age of (41.34±15.07) years. UWFA examination (British Optos 200Tx imaging system) using the protocol for obtaining 7SF images as described in the ETDRS, 7 circular regions with a range of 30 degrees are spliced as 7SF templates to determine the observation range. This template was then overlaid on the UWFA image to identify the potential viewable area of 7SF. And the visualized area of the retina, retinal non-perfusion (NP) area, retinal neovascularization (NV) area, and pan-retinal photocoagulation (PRP) area of UWFA and 7SF were quantified by a retinal specialist. Results UWFA imaging and 7SF imaging have a high degree of consistency in judging DR classification (kappa=0.851, P=0.000). The retinal visual area, NP area, NV area and PRP area of the UWFA imaging were 3.16, 3.38, 2.22 and 3.15 times more comparing with the simulated 7SF imaging (t=213.430, 45.013, 22.644, 142.665; P=0.000, 0.000, 0.003, 0.000). The lesions of 8 eyes were found outside the range of simulated 7SF imaging, including peripheral NP in 5 eyes, NV areas in 3 eyes, respectively. Conclusion UWFA imaging and simulated 7SF imaging are consistent to judge DR classification, but UWFA can find more peripheral retinal lesions. Key words: Diabetic retinopathy/diagnosis; Fluorescein angiography; Tomography, optical coherence

Clinical Features of Pregnancy-associated Retinal and Choroidal Diseases Causing Acute Visual Disturbance.

PurposeTo report clinical features of patients with retinal and choroidal diseases presenting with acute visual disturbance during pregnancy.MethodsIn this retrospective case series, patients who developed acute visual loss during pregnancy (including puerperium) and visited a tertiary hospital from July 2007 to June 2015, were recruited by searching electronic medical records. Patients were categorized according to the cause of visual loss. Clinical features and required diagnostic modalities were analyzed in the retinal and choroidal disease group.ResultsAcute visual loss occurred in 147 patients; 49 (38.9%) were classified into the retinal and choroidal group. The diagnoses included central serous chorioretinopathy (22.4%), hypertensive retinopathy with or without pre-eclampsia (22.4%), retinal tear with or without retinal detachment (18.4%), diabetic retinopathy progression (10.2%), Vogt-Koyanagi-Harada disease (4.1%), retinal artery occlusion (4.1%), multiple evanescent white dot syndrome (4.1%), and others (14.3%). Visual symptoms first appeared at gestational age 25.9 ± 10.3 weeks. The initial best-corrected visual acuity (BCVA) was 0.27 ± 0.39 logarithm of the minimum angle of resolution (logMAR); the final BCVA after delivery improved to 0.13 ± 0.35 logMAR. Serious visual deterioration (BCVA worth than 20 / 200) developed in two patients. Differential diagnoses were established with characteristic fundus and spectral-domain optical coherence tomography findings in all cases.ConclusionsIn pregnant women with acute visual loss, retinal and choroidal diseases are common and could be vision threatening. Physicians should be aware of pregnancy-associated retinal and choroidal diseases and their clinical features. The differential diagnosis can be established with non-invasive techniques.

Automatic vessel detection by means of brightness profile characterization in OCT images

Optical Coherence Tomography (OCT) is a well-established medical imaging technique that allows the analysis of the eye fundus characteristics in real time. These images enable the experts to make a clinical evaluation of the retinal vasculature, whose morphology provides relevant information for diseases like diabetes, hypertension or arteriosclerosis. In this paper, we present a novel proposal for the automatic vasculature identification in retinal OCT images. To achieve this, we analyse the intensity profiles between representative retinal layers, previously segmented. Then, two statistical models are generated using representative samples of vessel and non-vessel profiles. The analysis of both statistical models let us optimize the discrimination of both cathegories that is used, finally, to identify the vessel locations. The proposed method was adjusted and validated using 256 OCT images, including 1274 vascular structures that were labelled by an expert clinician. Satisfactory results were provided as a precision of 94.55% and a recall of 90.25% were obtained, respectively. The method facilitates the doctors’ work allowing better analysis and treatments of vascular diseases.

Fundus characteristics in teenagers with high myopia

Objective To assess the fundus characteristics and their associations with refractive error, best corrected visual acuity (BCVA) of highly myopic eyes in Chinese teenagers. Methods This is a cross-sectional and retrospective study. 544 teenagers (1050 eyes) with refraction more than -6.00 D were recruited from Tongren Eye Care Center. All participants underwent examinations including cycloplegic auto-refractometry and retinoscopy, BCVA, slit lamp and 45°color funds photography centered in macular. BCVA was recorded with logarithm of the minimum angle of resolution (logMAR) acuity. 988/1050 (94.1%) fundus photographs with clearly visible optic disc and fovea were selected for analysis. Degree of tessellation in optic disc and macular was defined by the exposure of choroidal vessel. Area of beta parapapillary atrophy (PPA), maximal and minimal diameter of optic disc, degree of fundus tessellation were measured by Image J software. Optic disc ovality was calculated by maximal diameter/minimal diameter. Associations between degree of tessellation, beta PPA area, optic disc ovality and refractive error, BCVA were analyzed. Presence of high myopic retinopathy, including chorioretinal atrophy, lacquer crack and Fuchs spot were also observed. Results Mean spherical equivalent was (-10.66±2.63) D. Mean logMAR BCVA was 0.11±0.22. Tessellation was in 66.9% eyes. Mean degree in macular and peripapillary region was 0.83±0.96 and 1.04±1.00 (r=0.875, P=0.000). Beta PPA was in 97.3% eyes and mean area was (0.45±0.57) mm2. Mean ovality factor was 1.25±0.18 and Tilted optic disc was in 28.5% eyes. Refractive error, logMAR BCVA, beta PPA area, tilted optic disc and ovality factor were related with the degree of optic disc and macular tessellation (P<0.05). Highly myopic retinopathy was found in 28 eyes, with older age, larger area of PPA, higher presence of tilted optic disc and degree of tessellation, worse BCVA. Conclusions Beta PPA was the main fundus characteristics in teenagers. Visual acuity can be seriously impaired by highly myopic retinopathy, such as chorioretinal atrophy. Key words: Myopia, degenerative/diagnosis; Myopia, degenerative/complications; Disease attributes

Characteristics of Fundus Autofluorescence in Active Polypoidal Choroidal Vasculopathy.

Objectives:To define characteristic fundus autofluorescence (FAF) findings in eyes with active polypoidal choroidal vasculopathy (PCV).Materials and Methods:Thirty-five eyes of 29 patients with active PCV who were diagnosed at Ege University Faculty of Medicine, Department of Ophthalmology, Retina Division between January 2012 and November 2014 were included in the study. All the patients underwent a complete ophthalmological examination including fundus photography, spectral-domain optical coherence tomography, fluorescein angiography, FAF photography, and indocyanine green angiography (ICGA). ICGA was used to diagnose active PCV and identify lesion components. FAF findings were described at the retinal site of the corresponding lesions identified and diagnosed using ICGA.Results:The mean age of the 29 study patients (15 men, 14 women) was 64.6±7.5 years (range, 54-82 years). ICGA revealed active PCV in 35 eyes, consisting of polypoid lesions in 11 eyes (31.4%), branching vascular networks (BVN) in 10 eyes (28.6%), and a combination of polypoid lesions and BVNs in 14 eyes (40%). On FAF images, 4 different patterns were detected at the corresponding retinal sites of 25 polypoid lesions detected by ICGA: confluent hypoautofluorescence with a hyperautofluorescent ring in 18 eyes (72%), hyperautofluorescence with hypoautofluorescent ring in 2 eyes (8%), confluent hypoautofluorescence in 1 eye (4%), and granular hypoautofluorescence in 1 eye (4%). The remaining 3 eyes (12%) demonstrated blocked hypoautofluorescence because of the excessive hemorrhaging in the macula. The FAF images showed the granular hypoautofluorescent FAF pattern in all 24 BVNs (100%) consistent with the location of the lesions on ICGA.Conclusion:The typical PCV lesions, polypoid lesions and BVNs had characteristic autofluorescent findings on FAF imaging. Non-invasive, quick, and repeatable FAF imaging can be considered a reliable and helpful diagnostic technique for the diagnosis of active PCV.

Martinique Crinkled Retinal Pigment Epitheliopathy: Clinical Stages and Pathophysiologic Insights

To reappraise the autosomal dominant Martinique crinkled retinal pigment epitheliopathy (MCRPE) in light of the knowledge of its associated mutated gene mitogen-activated protein kinase-activated protein kinase 3 (MAPKAPK3), an actor in the p38 mitogen-activated protein kinase pathway. Clinical and molecular study. A total of 45 patients from 3 generations belonging to a family originating from Martinique with an autosomal dominant MCRPE were examined. Best-corrected visual acuity, fundus photographs, and spectral-domain optical coherence tomography (SD OCT) of all clinically affected patients and carriers for the causal mutation were reviewed at the initial visit and 4 years later for 10 of them. Histologic retinal lesions of Mapkapk3(-/-) mice were compared with those of the human disease. The MCRPE natural history in view of MAPKAPK3 function and Mapkapk3(-/-) mouse retinal lesions. Eighteen patients had the c.518T>C mutation. One heterozygous woman aged 20 years was asymptomatic with normal fundus and SD OCT (stage 0). All c.518T>C heterozygous patients older than 30 years of age had the characteristic dried-out soil fundus pattern (stages 1 and 2). Complications (stage 3) were observed in 7 cases, including polypoidal choroidal vasculopathy (PCV) and macular fibrosis or atrophy. One patient was homozygous and had a form with severe Bruch's membrane (BM) thickening and macular exudation with a dried-out soil pattern in the peripheral retina. The oldest heterozygous patient, who was legally blind, had peripheral nummular pigmentary changes (stage 4). After 4 years, visual acuity was unchanged in 6 of 10 patients. The dried-out soil elementary lesions radically enlarged in patients with a preferential macular extension and confluence. These findings are in line with the progressive thickening of BM noted with age in the mouse model. During follow-up, there was no occurrence of PCV. MCRPE is an autosomal dominant, fully penetrant retinal dystrophy with a preclinical stage, an onset after the age of 30 years, and a preserved visual acuity until occurrence of macular complications. The natural history of MCRPE is in relation to the role of MAPKAPK3 in BM modeling, vascular endothelial growth factor activity, retinal pigment epithelial responses to aging, and oxidative stress.

Characteristics of fundus image in macular telangiectasia type 2

Objective To observe the fundus image characteristics of macular telangiectasia type 2 (MacTel type 2) patients. Methods A total of 8 patients (16 eyes) diagnosed of MacTel type 2 were included in this study. There were 4 males and 4 females, age ranged from 44 to 69 years old with a median age of (59.88±7.85) years. All patients received examination of best-corrected visual acuity (BCVA), slit lamp microscope, indirect ophthalmoscopy, fundus color photography, fundus autofluorescence (AF), fundus fluorescein angiography (FFA), spectral domain optical coherence tomography (OCT) and macular pigment optical density (MPOD). Four eyes of 2 patients received OCT angiography examination at the same time. Classification was made according to the Gass and Blodi′s criteria. The follow-up time was from 1 to 19 months with the average time of (11.00±8.91) months. The clinical characteristics were observed and analyzed. Results The BCVA was 0.07 - 0.8. There were 1 eye in stage 1, 1 eye in stage 2, 6 eyes in stage 3, 8 eyes in stage 4. The disease showed a bilateral appearance with a low progression. Fundus features included loss of retinal transparency (14 eyes, 87.5%), blunted retinal venule (15 eyes, 93.75%), pseudo-lamellar hole (5 eyes, 31.25%), pigment proliferation (9 eyes, 56.25%). FFA findings were telangiectatic capillaries predominantly temporal to the foveola in the early phase and a diffuse hyperfluorescence in the late phase. Spectral domain OCT features included depletion of the retinal inner, outer structures, cavity (7 eyes, 43.75%), and atrophy of the neurosensory retina (9 eyes, 56.25%). On AF, reduced foveal masking due to loss of macular pigment can be observed. The loss of macular pigment could also be seen on MPOD. OCTA showed the increased intervascular spaces, broken regular network of foveal avascular zone (FAZ), right-angled vessel dipping, dilatations, traction of superficial and deep capillary layers in both the superficial and deep layers, especially in the deep layer. Only one eye of one patient proceeded from stage 4 to stage 5. Conclusions Characteristic features of MacTel type 2 included cavities and outer retina atrophy on OCT; loss of MP on MPOD; broken regular network of FAZ, morphological and structural abnormalities of superficial and deep layers of perifoveal capillary network on OCTA. Key words: Retinal Diseases/diagnosis; Macula lutea/injuries; Disease attributes

ASYMMETRIC CONE DISTRIBUTION AND ITS CLINICAL APPEARANCE IN RETINITIS PIGMENTOSA.

To report the characteristic changes of fundus autofluorescence in the nasal retina of patients with retinitis pigmentosa. We investigated 113 eyes of 113 patients with retinitis pigmentosa. We obtained wide-field fundus autofluorescence images and evaluated the status of the retina nasal to the optic disk. The patients were divided into the following three groups: those without nasal sparing (advanced), those with nasal sparing, and those with larger intact areas in addition to the nasal retina (early). Visual acuity, visual field area, age, and the duration of the symptom were compared among the groups. Twenty eyes (17.7%), 51 (45.1%), and 42 (37.1%) were classified as early, nasal sparing, and advanced, respectively. The nasal retina was essentially preserved in the early group. The clinical characteristics' analysis suggested that the disease progression appears from that represented by early groups, then nasal sparing groups, and finally advanced groups. The authors found that the nasal sparing pattern bears a close resemblance to the previously reported cone photoreceptor distribution. Wide-field fundus autofluorescence imaging detected nasal sparing in retinitis pigmentosa. The characteristic fundus autofluorescence pattern should reflect cone photoreceptor distribution in the human retina. This finding may be an example of the clinical appearance of asymmetric photoreceptor distribution.

Molecular and Clinical Findings in Patients With Knobloch Syndrome.

Knobloch syndrome is a rare, recessively inherited disorder classically characterized by high myopia, retinal detachment, and occipital encephalocele, but it is now known to have an increasingly variable phenotype. There is a lack of reported electrophysiologic data, and some key clinical features have yet to be described. To expand on current clinical, electrophysiologic, and molecular genetic findings in Knobloch syndrome. Twelve patients from 7 families underwent full ophthalmic examination and retinal imaging. Further investigations included electroretinography and neuroradiologic imaging. Bidirectional Sanger sequencing of COL18A1 was performed with segregation on available relatives. The study was conducted from July 4, 2013, to October 5, 2015. Data analysis was performed from May 20, 2014, to November 3, 2015. Results of ophthalmic and neuroradiologic assessment and sequence analysis of COL18A1. Of the 12 patients (6 males; mean age at last review, 16 years [range, 2-38 years]), all had high myopia in at least 1 eye and severely reduced vision. A sibling pair had unilateral high myopia in their right eyes and near emmetropia in their left eyes from infancy. Anterior segment abnormalities included absent iris crypts, iris transillumination, lens subluxation, and cataract. Two patients with iris transillumination had glaucoma. Fundus characteristics included abnormal collapsed vitreous, macular atrophy, and a tesselated fundus. Five patients had previous retinal detachment. Electroretinography revealed a cone-rod pattern of dysfunction in 8 patients, was severely reduced or undetectable in 2 patients, and demonstrated cone-rod dysfunction in 1 eye with undetectable responses in the other eye in 2 patients. Radiologic imaging demonstrated occipital encephalocele or meningocele in 3 patients, occipital skull defects in 4 patients, minor occipital changes in 2 patients, and no abnormalities in 2 patients. Cutaneous scalp changes were present in 5 patients. Systemic associations were identified in 8 patients, including learning difficulties, epilepsy, and congenital renal abnormalities. Biallelic mutations including 2 likely novel mutations in COL18A1, were identified in 6 families that were consistent with autosomal recessive inheritance with a single mutation identified in a family with 2 affected children. This report describes new features in patients with Knobloch syndrome, including pigment dispersion syndrome and glaucoma as well as cone-rod dysfunction on electroretinography. Two patients had normal neuroradiologic findings, emphasizing that some affected individuals have isolated ocular disease. Awareness of the ocular phenotype may aid early diagnosis, appropriate genetic counseling, and monitoring for potential complications.

Coat's like vasculopathy in leber congenital amaurosis secondary to homozygous mutations in CRB1: a case report and discussion of the management options.

BackgroundMutations in the CRB1 gene are associated with variable phenotypes of severe retinal dystrophies, and retinal dystrophies resulting from CRB1 mutations may be accompanied by specific fundus features such as coat’s like vasculopathy in retinitis pigmentosa patients. This is the first report of the occurrence of coat’s like vasculopathy in a patient diagnosed with Leber congenital amaurosis caused by a CRB1 mutation.Case presentationAn 18-year old Syrian female patient presented with bilateral gradual loss of vision since early childhood, with recent deterioration in her left eye. She appeared to have an asymmetric bilateral coat’s like vasculopathy which was more severe in the left eye. The diagnosis of Leber congenital amaurosis was suggested, and a genetic CRB1 sequencing for the patient and her two younger siblings, who also had severe vision loss, was done, upon which the diagnosis of Leber congenital amaurosis associated with exudative retinal detachment due to coat’s like vasculopathy was made. Treatment with panretinal photocoagulation was attempted in the worse left eye, but with no improvement. As the disease suddenly progressed in both eyes, pars plana vitrectomy with endolaser and silicone oil tamponade was performed in the better right eye which led to anatomical stabilization of the case without improvement in the visual acuity.ConclusionLeber congenital amaurosis is reported to be associated with multiple systemic and ocular findings, none of which is coat’s like vasculopathy. CRB1 gene mutations are associated with remarkable retinal findings in patients with retinitis pigmentosa and other fundus dystrophies. In this unique case we are reporting the incidence of coat’s like vasculopathy in a patient diagnosed with Leber congenital amaurosis caused by CRB1 gene mutation, and its management. CRB1 mutant patients should be followed up closely as sudden progression can have permanent poor outcomes and as early management is vital in such cases.

Analysis of Fundus Photography and Fluorescein Angiography in Nonarteritic Anterior Ischemic Optic Neuropathy and Optic Neuritis.

PurposeWe evaluated fundus and fluorescein angiography (FAG) findings and characteristics that can help distinguish nonarteritic anterior ischemic optic neuropathy (NAION) from optic neuritis (ON).MethodsTwenty-three NAION patients and 17 ON with disc swelling patients were enrolled in this study. We performed fundus photography and FAG. The disc-swelling pattern, hyperemia grade, presence of splinter hemorrhages, cotton-wool spots, artery/vein ratio and degree of focal telangiectasia were investigated. The FAG findings for each patient were compared with respect to the following features: the pattern of disc leakage in the early phase, arteriovenous (artery/vein) transit time (second), and the presence and pattern of the filling delay.ResultsCotton-wool spots, focal telangiectasia, and venous congestion were more common in the affected eyes of NAION patients. Upon FAG, 76.5% of the patients in the ON group exhibited normal choroidal circulation. However, 56.5% of patients in the NAION group demonstrated abnormal filling defects, such as peripapillary, generalized, or watershed zone filling delays.ConclusionsFundus findings, including cotton-wool spots, focal telangiectasia, and venous congestion in the affected eye, may be clues that can be used to diagnose NAION. In addition, choroidal insufficiencies on FAG could be also helpful in differentiating NAION from ON.

Clinical Analysis of Fundus Changes in Myopia

Objective: To assess the fundus changes and incidence of various peripheral retinal degeneration associated with Myopia and to correlate these changes with the age of the patients. Materials and Methods: Randomised Prospective observational study of 100 cases of myopia (less than or equal to -6D: 50 cases and more than -6D: 50 cases) all the patients detailed history was recorded and subjected to intensive examination of both Anterior segment and posterior segment of the eye. The various fundus features and pathological lesions in the different degrees of myopia were noted and analysed. Findings: Females were comparatively affected more. Majority of the patients did not have significant family history. Majority of the cases showed some fundus changes more common were tessellated fundus. Axial length is relatively increased in higher degrees of myopia. Peripheral retinal degeneration are more common in moderate to higher degrees of myopia. Applications: The degenerative changes of fundus is commonly seen in moderate to high degrees of myopia whereas in our study it is evident in lesser degree also. Hence thorough examination of peripheral fundus using indirect ophthalmoscope for all cases of myopia will help in early diagnosis and treatment.