An Improved Deep Learning Framework for Automated Optic Disc Localization and Glaucoma Detection

Glaucoma disease causes irreversible damage to the optical nerve and it has the potential to cause permanent loss of vision.Glaucoma ranks as the second most prevalent cause of permanent blindness.Traditional glaucoma diagnosis requires a highly experienced specialist,costly equipment,and a lengthy wait time.For automatic glaucoma detection,state-of-the-art glaucoma detection methods include a segmentation-based method to calculate the cup-to-disc ratio.Other methods include multi-label segmentation networks and learning-based methods and rely on hand-crafted features.Localizing the optic disc(OD)is one of the key features in retinal images for detecting retinal diseases,especially for glaucoma disease detection.The approach presented in this study is based on deep classifiers for OD segmentation and glaucoma detection.First,the optic disc detection process is based on object detection using a Mask Region-Based Convolutional Neural Network(Mask-RCNN).The OD detection task was validated using the Dice score,intersection over union,and accuracy metrics.The OD region is then fed into the second stage for glaucoma detection.Therefore,considering only the OD area for glaucoma detection will reduce the number of classification artifacts by limiting the assessment to the optic disc area.For this task,VGG-16(Visual Geometry Group),Resnet-18(Residual Network),and Inception-v3 were pre-trained and fine-tuned.We also used the Support Vector Machine Classifier.The feature-based method uses region content features obtained by Histogram of Oriented Gradients(HOG)and Gabor Filters.The final decision is based on weighted fusion.A comparison of the obtained results from all classification approaches is provided.Classification metrics including accuracy and ROC curve are compared for each classification method.The novelty of this research project is the integration of automatic OD detection and glaucoma diagnosis in a global method.Moreover,the fusion-based decision system uses the glaucoma detection result obtained using several convolutional deep neural networks and the support vector machine classifier.These classification methods contribute to producing robust classification results.This method was evaluated using well-known retinal images available for research work and a combined dataset including retinal images with and without pathology.The performance of the models was tested on two public datasets and a combined dataset and was compared to similar research.The research findings show the potential of this methodology in the early detection of glaucoma,which will reduce diagnosis time and increase detection efficiency.The glaucoma assessment achieves about 98%accuracy in the classification rate,which is close to and even higher than that of state-of-the-art methods.The designed detection model may be used in telemedicine,healthcare,and computer-aided diagnosis systems.

Automated evaluation of parapapillary choroidal microvasculature in crowded optic discs:a controlled,optical coherence tomography angiography study

AIM:To compare superficial and deep vascular properties of optic discs between crowded discs and controls using optical coherence tomography angiography(OCT-A).METHODS:Thirty patients with crowded discs,and 47 control subjects were enrolled in the study.One eye of each individual was included and OCT-A scans of optic discs were obtained in a 4.5×4.5 mm^(2) rectangular area.Radial peripapillary capillary(RPC)density,peripapillary retinal nerve fiber layer(pRNFL)thickness,cup volume,rim area,disc area,cup-to-disc(c/d)area ratio,and vertical c/d ratio were obtained automatically using device software.Automated parapapillary choroidal microvasculature(PPCMv)density was calculated using MATLAB software.When the vertical c/d ratio of the optic disc was absent or small cup,it was considered as a crowded disc.RESULTS:The mean signal strength index of OCT-A images was similar between the crowded discs and control eyes(P=0.740).There was no difference in pRNFL between the two groups(P=0.102).There were no differences in RPC density in whole image(P=0.826)and peripapillary region(P=0.923),but inside disc RPC density was higher in crowded optic discs(P=0.003).The PPCMv density in the inner-hemisuperior region was also lower in crowded discs(P=0.026).The pRNFL thickness was positively correlated with peripapillary RPC density(r=0.498,P<0.001).The inside disc RPC density was negatively correlated with c/d area ratio(r=-0.341,P=0.002).CONCLUSION:The higher inside disc RPC density and lower inner-hemisuperior PPCMv density are found in eyes with crowded optic discs.

Birth Defects of the Child Optic Disc: Diagnostic Challenges and Prospects for Care

Introduction: Congenital optic disc anomalies in children refer to structural variations of the optic nerve head present from birth. These deformations involve the size, shape, color, and vessels of the optic disc. Although often asymptomatic, these anomalies can impact the visual development of the child, underscoring the importance of a thorough fundus examination for early detection and appropriate medical follow-up. We present two cases of congenital optic disc anomalies in children, illustrating the diagnostic challenges and complexity of their management. Case 1: A 3-year-old girl presented with a white spot in her left eye present since birth. Uncorrected distance visual acuity was 2/10 in the right eye, while she could perceive hand movements at 2 meters with the left eye. Normal examination in the right eye showed leukocoria, microphthalmia, and a white mass at the center of the optic disc on fundus examination in the left eye. Ocular imaging, including ultrasound and optical coherence tomography (OCT), confirmed the diagnosis of persistent hyperplastic primary vitreous (PHPV) in its mixed form in the left eye. Management included prescribing full optical correction and functional rehabilitation, without resorting to surgery. The course was marked by persistent amblyopia leading to a poor prognosis. Case 2: A 7-year-old girl consulted for vision disturbance in her right eye. Visual acuity was finger counting at 2 meters in the right eye and 10/10 in the left eye. Anterior segment examination revealed no abnormalities in both eyes. However, fundus examination highlighted a large funnel-shaped excavation associated with central glial proliferation, wheel spoke vessels, and neuroretinal ring atrophy in the right eye. Optical coherence tomography (OCT) of the right eye confirmed the diagnosis of isolated unilateral Morning Glory syndrome. Management included full optical correction and orthoptic rehabilitation. The course was marked by the absence of ocular complication and maintenance of visual stability in the right eye. The prognosis seemed favorable. Conclusion: Congenital optic disc anomalies in children exhibit great clinical variability and require an individualized diagnostic and therapeutic approach.

Quantitative analysis of optic disc changes in school-age children with ametropia based on artificial intelligence

AIM:To explore changes in the optic disc and peripapillary atrophy(PPA)in school-age children with ametropia using color fundus photography combined with artificial intelligence(AI)technology.METHODS:Based on the retrospective case-controlled study,226 eyes of 113 children aged aged 6–12y were enrolled from October 2021 to May 2022.According to the results of spherical equivalent(SE),the children were divided into four groups:low myopia group(66 eyes),moderate myopia group(60 eyes),high myopia group(50 eyes)and emmetropia control group(50 eyes).All subjects underwent un-aided visual acuity,dilated pupil optometry,best-corrected visual acuity(BCVA),intraocular pressure,ocular axis measurement and color fundus photography.RESULTS:The width of PPA,horizontal diameter ratio of PPA to the optic disc and area ratio of PPA to the optic disc were significantly different among the four groups(P<0.05).The width of the nasal and temporal neuroretinal rim,the roundness of the optic disc,the height of PPA,the vertical diameter ratio of PPA to the optic disc,and the average density of PPA in the high myopia group were significantly different compared with the other three groups(P<0.05).There were strong negative correlations between SE and area ratio of PPA to the optic disc(r=-0.812,P<0.001)and strong positive correlation between axial length(AL)and area ratio of PPA to the optic disc(r=0.736,P<0.001).CONCLUSION:In school-age children with high myopia,the nasal and temporal neuroretinal rims are narrowed and even lost,which have high sensitivity.The area ratio of the PPA to the optic disc could be used as an early predictor of myopia progression,which is of great significance for the development prevention and management of myopia.

Automatic Optic Disc Detection in Retinal Images Using FKMT‒MOPDF

In recent days,detecting Optic Disc(OD)in retinal images has been challenging and very important to the early diagnosis of eye diseases.The process of detecting the OD is challenging due to the diversity of color,intensity,brightness and shape of the OD.Moreover,the color similarities of the neighboring organs of the OD create difficulties during OD detection.In the proposed Fuzzy K‒Means Threshold(FKMT)and Morphological Operation with Pixel Density Feature(MOPDF),the input retinal images are coarsely segmented by fuzzy K‒means clustering and thresholding,in which the OD is classified from its neighboring organs with intensity similarities.Then,the segmented images are given as the input to morphological operation with pixel density feature calculations,which reduce the false detection in the small pixel of the OD.Finally,the OD area is detected by applying the Sobel edge detection method,which accurately detects the OD from the retinal images.After detection optimization,the proposed method achieved Sensitivity(SEN),Specificity(SPEC)and Accuracy(ACC),with 96.74%,96.78%and 96.92%in DiaretDB0(Standard Diabetic Retinopathy Database Calibration level 0),97.12%,97.10%and 97.75%in DiaretDB1(Standard Diabetic Retinopathy Database Calibration level 1)and 97.19%,97.47%and 97.43%in STARE(Structured Analysis of the Retina)dataset respectively.The experimental results demonstrated the proposed method’s efficiency for segmenting and detecting OD areas.

Optic disc and peripapillary changes by optic coherence tomography in high myopia

Myopia,a worldwide condition,is a multifactorial disease resulting in many ocular complications.Early onset of myopia has a great tendency to develop high myopia and pathological myopia later in life.The pathophysiology and progression of myopia is still unclear.Owing to its involving in visual function,optic disc and peripapillary change in high myopia can＇t be neglected,and it may help in better understanding of the pathophysiology or mechanism of myopia progression.Recently,advanced imaging techniques have been developed,such as optical coherence tomography（OCT）,allowing for better detecting of optic disc and peripapillary change.OCT is a highresolution and noninvasive measurement for detection of ocular structure.Herein,we provide an updated review of optic disc and peripapillary change in OCT image,including its characteristics and clinical significance.We also propose some problems needed further investigation.

NDC-IVM:An automatic segmentation of optic disc and cup region from medical images for glaucoma detection

Glaucoma is an eye disease that usually occurs with the increased Intra-Ocular Pressure(IOP),which damages the vision of eyes.So,detecting and classifying Glaucoma is an important and demanding task in recent days.For this purpose,some of the clustering and segmentation techniques are proposed in the existing works.But,it has some drawbacks that include ineficient,inaccurate and estimates only the affected area.In order to solve these issues,a Neighboring Differential Clustering(NDC)-Intensity V ariation Making(IVM)are proposed in this paper.The main intention of this work is to extract and diagnose the abnormal retinal image by identifying the optic disc.This work includes three stages such as,preprocessing,clustering and segmentation.At first,the given retinal image is preprocessed by using the Gaussian Mask Updated(GMU)model for eliminating the noise and improving the quality of the image.Then,the cluster is formed by extracting the threshold and patterns with the help of NDC technique.In the segmentation stage,the weight is calculated for pixel matching and ROI extraction by using the proposed IVM method.Here,the novelty is presented in the clustering and segmentation processes by developing NDC and IVM algorithms for accurate Glaucoma identification.In experiments,the results of both existing and proposed techniques are evaluated in terms of sensitivity,specificity,accuracy,Hausdorff distance,Jaccard and dice metrics.

Serous macular detachment due to nasally located optic disc pit-coloboma

Dear Editor,We present the first reported case of nasal optic disc pit resulting in serous detachment of the macula. Optic disc pit is a rare congenital anomaly occurring in one out of 11 000 people. The appearance is a localized round or oval depression in that is grey, yellow or black in colour depending on the amount of glial tissue present.

Optic disc area in different types of glaucoma

AIMTo evaluate the possible relationship of optic disc area with retina nerve fiber layer in different glaucoma subtypes.METHODSOne eye each was chosen from 45 patients with ocular hypertension, 45 patients with primary open angle glaucoma, 45 patients with pseudoexfoliation glaucoma and 45 healthy controls followed in our hospital. The records of the patients were reviewed retrospectively. Optic disc area and circumpapillary retina nerve fiber layer measurements were obtained using optical coherence tomography. Central corneal thickness was measured by ultrasound pachymetry.RESULTSThe median disc area in the patients with primary open angle glaucoma was significantly higher than the patients with ocular hypertension (2.19 vs 1.90 mm2, P=0.030). The median retina nerve fiber layer was thinner in the patients with primary open angle glaucoma and pseudoexfoliation glaucoma than the patients with ocular hypertension for superior, inferior and temporal quadrants. After adjustment for age, no difference in central corneal thickness was found between the groups. Greater disc area was associated with thicker retinal nerve fiber layer for superior, inferior and nasal quadrants in the patients with primary open angle glaucoma. There was no correlation between disc area and central corneal thickness measurements of the groups.CONCLUSIONDisc size affects the retinal nerve fiber layer thickness in eyes with primary open angle glaucoma and is a possible risk factor for glaucomatous optic nerve damage.

Agreement in identification of glaucomatous progression between the optic disc photography and Heidelberg Retina Tomography in young glaucomatous patients

AIM:To evaluate concordance between the clinical assessment of glaucomatous progression of the optic disc photography and progression identified by Heidelberg Retina Tomograph(HRT)in patients with suspected primary juvenile open angle glaucoma(JOAG).METHODS:Optic disc photographs and corresponding HRTⅡseries were reviewed.Optic disc changes between first and final photographs were noted as well as progression identified by HRT topographic change analysis(TCA)and rim area regression line(RARL)Agreement between progression indentified by photography and HRT methods was assessed.Progression,determined from optic disc photographs by consensus assessment was used as the reference standard.RESULTS:A total of 31 patients(59 eyes)with suspected JOAG were studied.Agreement for progression/no progression between TCA and photography was obtained in 4 progressing eyes and 38stable eyes(71.19%,k=0.11).Agreement for progression/no progression between RARL and photography was detected in 5 progressing eyes and in 34 stable eyes(66.10%,k=0.15).The number of HRT per patient was statistically higher in the progressing group(P=0.034).CONCLUSION:Agreement for detection of longitudinal changes between photography and HRT analysis was poor.One way to improve the chance of discovery of the progression could be increasing the number of HRT examinations.

Visual field defects and retinal nerve fiber layer damage in buried optic disc drusen: a new insight

AIM: To assess the association between buried optic disc drusen(BODD) location using spectral-domain optical coherence tomography(SD-OCT) and the location of associated visual field defects(VFD) using the Garway-Heath mapping.METHODS: This monocentric retrospective crosssectional study was led at the authors’ institution. Adult patients diagnosed with BODD who had complete records with a reliable Humphrey? 24-2 visual field, macular, and papillary OCT were enrolled. Fisher’s exact test was used to measure the association between BODD location and VFD distribution according to Garway-Heath’s mapping.RESULTS: Totally 20 eyes of 15 patients were included(60% females). The median age(interquartile range) was 63(43)y and the median best corrected visual acuity(BCVA) was-0.08(0.08) log MAR. BODD were mostly located in zones A, E, and F. The minimal rim width(MRW) was globally preserved. The retinal nerve fiber layer(RNFL) was predominantly altered in zones D, E, and F. There was a significant correlation between BODD location and that of RNFL alterations in zones D(P=0.03) and E(P=0.025);Moreover, the presence of BODD in the E zone was significantly related to damaged RNFL in the neighbouring sectors D and F(P=0.012;P=0.02 respectively). Sixty-three percent(12/19) of visual fields were abnormal and there was a significant match(Phi=0.7, P=0.009) between drusen location and VFD only in zone D.CONCLUSION: BODD do not only affect young patients and can be more harmful than usually expected, as we found VFD in 63% of cases. There is a correspondence between BODD location, RNFL damage, and VFD distributions. The presence of BODD induces the overestimation of MRW,thereby disrupting its sensitivity as an early indicator of ganglion fibers damage.

Ecstasy-induced optic disc swelling and consequent visual loss

Dear Editor,We present the first reported case of unilateral optic disc swelling with subsequent persistent loss of vision triggered by ecstasy consumption in the case of a young man.Ecstasy is one of the most commonly consumed recreational drugs among young adults.Its main constituent and active substance is 3,4-methylenedioxymethamphetamine(MDMA).

Concurrent optic disc pit and retinal cavernous hemangioma

We present, to the authors＇ knowledge, the first reported case of an optic disc pit （ODP） and retinal cavernous hemangioma （RCH） in the same eye in addition to a review of both clinical entities. An ODP is a rare congenital or acquired cavitary defect in the optic nerve head.

Optic disc coloboma associated with macular retinoschisis:A case report

BACKGROUND To report an unusual case of bilateral optic disc coloboma associated with macular retinoschisis in the left eye.CASE SUMMARY A 37-year-old woman presented with complaints of blurred and distorted vision in her left eye for more than 1 year.Fundus examination demonstrated choroidal atrophy around the optic disc in both eyes,with a cup-to-disc ratio of 0.9.Serous retinal detachment in the macular area of the left eye.Left eye macular blood flow imaging optical coherence tomography(Angio-OCT)showed macular retinal serous cleavage.En-face OCT showed that the canal gully-like structure formed by the defect of the optic disc nerve fiber layer between the optic disc and macula,serous detachment area was connected with the enlarged optic disc coloboma through the canal gully-like structure,and the fluid leaked from the enlarged and thinned optic disc coloboma into the retinal layer of the macular area.Patients with optic disc abnormalities and macular degeneration must be monitored appropriately.During the follow-up period,the use of optic disc stereography and 3D-OCT,en-face,and Angio-OCT imaging can clarify the correlation between macular retinoschisis and optic disc coloboma.CONCLUSION Macular retinoschisis may be owing to the combined force of disc edge loss,enlarged optic disc coloboma,the canal gully-like structure formed by the defect of the nerve fiber layer around the optic disc,and the traction of the posterior vitreous cortex.

Intravitreal Ranibizumab Combined with Sulfotanshinone Sodium Injection in Treating Type II Optic Disc Vasculitis

Objectives: To present the effect of intravitreal ranibizumab (IVR) therapy combined with sulfotanshinone sodium (SS) injection in a patient suffering from type II optic disc vasculitis (ODV). Methods: A 26-year-old female patient was diagnosed with type II ODV with macular edema (ME). The information was obtained by complete medical and ophthalmic history taking and a detailed ophthalmic examination at the initial and follow-up visits. Functional and morphological outcomes at baseline, 1 week and 1 month following IVR+SS injections, are presented. Results: Best-corrected visual acuity (BCVA) improved from 78 letters (ETDRS) at baseline to 90 letters at 1-week follow-up and maintained stable through 1-month follow-up. Central retinal thickness (CRT) measured by optical coherence tomography (OCT) decreased from 465 μm at baseline to 240 μm at 1-week follow-up and to 226 μm at 1-month follow-up. Mean deviation (MD) measured by perimetry increased from ?5.17 dB to ?4.59 dB and to ?4.29 dB, respectively. Fluorescein angiography (FFA) showed that the initial macular edema at baseline disappeared while the arm-retina circulation time (ART) was also greatly shortened when compared to the baseline. Electroretinogram (ERG) measured at 1-month follow-up demonstrated an overall improvement of the retinal function after the injection. No ocular or systemic side effects were detected. Conclusions: IVR+SS injection may lead to resolution of the associated ME and improve the retina morphologically as well as functionally. To our knowledge, this is the first case of a type II ODV benefiting from treatment with IVR+SS injection. The observed results warrant further investigation.

Association between polymorphism of optic disc related genes and susceptibility to primary open angle glaucoma in Inner Mongolia

Objective:To explore the relationship between the polymorphism of optic disc related genes and the susceptibility to primary open angle glaucoma(POAG)in Inner Mongolia.Methods:A retrospective study was adopted to include 108 patients who were diagnosed as POAG in six hospitals in Hohhot and Baotou from January of 2014 to December of 2016(POAG group).At the same time,120 healthy examinees were included in the control group.1-2 ml of whole blood was collected by use of EDTA anticoagulation tubes from each patient in these two groups.It was required to fully mix EDTA with whole blood in order to extract genomic DNA and place it in the-20℃ refrigerator.Mass spectrometry was used to identify the genotype of single nucleotide polymorphism(SNP)of RFTN1(rs690037),ATOH7(rs7916697,rs3858145),CDC7(rs1192415),CDKN2B(rs1063192)and SIX(rs10483727)in 108 POAG patients and 120 normal controls.χ^(2) test and binary logistic regression were used to analyze the relationship between the genetic polymorphism and the occurrence of POAG.Results:The frequency of G allele at CDKN2B(rs1063192)in POAG group was significantly higher than that in the control group(27%vs.17%),and the difference was of statistical significance[odds ratio(OR)=1.824,95%confidence interval(CI):1.163-2.861,p=.008];As to the comparison in the frequency of allele at the other 7 SNPs between the two groups,the differences were statistically significant(all p>.05).Additive and dominant models at rs1063192 indicated that the individuals with G allele were more susceptible to POAG,and the difference was of statistical significance(p<.05),and recessive models showed that the risk in the individuals with A allele was not significantly reduced,and the difference was of no statistical significance(p>.05).There was no statistically significant difference in the distribution of genotypes at other SNPs between POAG group and the control group(p>.05).Conclusions:The genetic polymorphism of CDKN2B(rs1063192)is associated with the susceptibility to POAG,and G allele may increase the risk for POAG.

The Influence of Surgical and Medical Interventions upon Optic Disc Structure in Patients with Primary Open Angle Glaucoma

Purpose:To evaluate the changes of optic disc parameters in primary open angle glaucoma(POAG)patients after surgical and medical treatment,.and analyze the determinants of these changes.Methods:.A total of 67 patients were enrolled in this study.Thirty nine patients.(40 eyes) underwent trabeculectomy and 28 patients(32 eyes).received intra-ocular pressure(IOP) lowering medical therapy..All subjects underwent bilateral routine ocular examination and Heidelberg retina tomography.(HRT) before treatment and 2 weeks,.1 month,3 months,.6 months and 1 year after treatment..Changes in optic disc parameters in both the surgical and medical groups were analyzed,as was the influence of disease severity and IOP reduction on these changes.Results:.In the surgical group,the average preoperative IOP was 32.8±8.64 mmHg,.which showed a significant decline at each post-operative visit..Most optic disc parameters measured by HRT were significantly improved after trabeculectomy.(P=0.001～0.01),.though the amount of improvement declined gradually during the post-operative period.Rim volume (RV),cup shape measure (CSM),mean RNFL (mRNFL),RNFL cross sectional area (RNFLA) and vertical cup-to-disc ratio (C/D) still remained significantly below the pre-operative mean one year after surgery.In the medical group,the mean IOP before treatment was 24.8±4.32 mmHg and remained < 21 mmHg on all subsequent post-treatment visits.However,no significant changes in optic disc parameters were found after initiation of medical treatment(F=0.52～2.21,P=0.75～0.07).In the surgical group,the extent of reduction of IOP was positively correlated with the improvement in RV,CSM and vertical C/D(r=0.41～0.58,P=0.001～0.04) at one year after trabeculectomy.The absolute value of the mean deviation on visual field testing was negatively correlated with the improvement of RV and CSM (r=-0.43～-0.62,P=0.03～0.001).Conclusion:Improvement in optic disc parameters occurred more commonly after surgical than medical treatment in POAG patients.The amount of reduction of IOP was correlated with the extent of this improvement,which may be more limited in more severe glaucoma.

Transient Symptomatic Bilateral Optic Disc Oedema Following Lumbar Spinal Surgery— An Unusual Presentation

Background: Optic disc oedema has various underlying pathologies, however, unless visually disabling does not usually bring a patient to the physician. The more common symptoms of headache, nausea and vomiting lead to the incidental detection of bilateral disc oedema [1]. Optic disc oedema seen following spinal surgery is usually associated with visual acuity changes and often goes by the acronym POVL (Peri/ postoperative visual loss) wherein, as the name goes, visual acuity changes are profound [2] [3] [4]. Purpose: We would like to highlight a case of transient Bilateral Optic Disc oedema following Lumbar spinal surgery maintaining normal visual acuity and attaining spontaneous resolution. Case Report: A 42-year-old female presented with transient obscuration of vision and flashes of light post an uneventful lumbar spinal surgery. Ophthalmic evaluation revealed normal visual acuity and pupils but marked disc edema right more significant than left. There was no colour vision deficit, neither any field changes. By a process of exclusion, it was likely the patient had developed bilateral disc oedema secondary to the spinal surgery. On follow-up 6 weeks and 3 months later, the oedema had completely settled and visual acuity remained at 6/6. Conclusion: Optic disc oedema can be unilateral or bilateral with some of the uncommon conditions mentioned secondary to spinal surgery, however, in those situations, visual loss has been severe and permanent. Our case is unusual in its combination of disc edema with normal acuity along with its transient nature and resolution and to our knowledge, has not been published before.

Optic Disc Drusen in a Child Diagnosed with Alport Syndrome—Case Report

Optic disc drusen are eye abnormalities characterised by calcific degeneration affecting some axons of the optic nerve. Alport syndrome is a collagen IV related nephropathy with well-described pathognomonic ocular features. We present the case of a child who following series of investigations was found to have bilateral optic disc drusen, and eventually a further diagnosis of Alport syndrome confirmed. Literature is clear on the underlined aetiology responsible for both renal and extra renal abnormalities of Alport syndrome, which is not related to development of optic disc drusen. The case described makes it pertinent that not only the associated eye signs of Alport syndrome are monitored, but also early detection of other possible co-existing diseases that may influence outcomes.

Combined Hamartoma of the Optic Disc and Retinal Pigment Epithelium—3 Years of the Follow-Up with Semi-Automated Kinetic Perimetry

Aim: To present a case of hamartoma of the optic disc and Retinal Pigment Epithelium (RPE) and follow up of the visual function over three-years period. Methods: A seventeen-year-old boy has observed reduced visual acuity in his left eye. The visual acuity was 0.2 and there was RAPD in the left eye. Fundoscopy revealed an elevation of the optic disc obscuring disc vessels with epiretinal gliosis. Fluorescein angiography demonstrated hyperfluorescent saccular dilatations with leakage in the late phase. Ocular Coherence Tomography (OCT) showed hyperreflective elevation of the optic disc and epiretinal membrane. There was a juxtapapillary scotoma in Semi-automated Kinetic Perimetry (SKP). There was no systemic diseases. Results of blood tests, CT and MRI of CNV were normal. Results: After 3 years period of the follow-up the visual acuity was 0.1 and there was a progression of the visual field defect to the altitudinal scotoma in the upper hemisphere. Fluorescein anhiography and OCT revealed the same. Conclusion: Hamartoma of RPE and optic disc is a rare condition consisting of glial, vascular and RPE cells. It should be differentiated from optic disc oedema and vascular tumors of the retina. Assessment of the visual function is very important in the longitudinal follow-up.