Management of Bilateral Diffuse Uveal Melanocytic Proliferation (BDUMP)-A Case Report.

Background and Objectives: This study reports a case of a 62-year-old patient experiencing a significant decline in vision over the past three months. The initial best-corrected visual acuity (BCVA) of 20/20 in both eyes diminished to 20/200 in the right eye (RE) and counting fingers (CF) in the left eye (LE) within this timeframe. The patient was diagnosed with stage 4 ovarian cancer just one month before the significant vision deterioration. Materials and Methods: A thorough ophthalmologic examination revealed a notable progression of cataracts and the presence of subretinal fluid on the posterior pole, accompanied by choroidal thickening. The right eye exhibited multifocal, orange-pigmented, and elevated choroidal lesions, while the left eye's fundus examination was impeded by dense cataracts. Optical coherence tomography (OCT) revealed bilateral choroidal thickening with overlying folds and subretinal fluid, and ultrasound imaging of the choroidal lesions indicated moderate homogenous internal reflectivity. Results: The patient received a diagnosis of BDUMP (bilateral diffuse uveal melanocytic proliferation), a paraneoplastic syndrome marked by simultaneous, bilateral, painless vision loss and the rapid onset of bilateral cataracts with serous retinal detachments. Despite cataract extraction, the expected visual recovery was not achieved (RE: CF; LE: 2/200, respectively). Plasmapheresis showed some success in stabilizing vision loss attributed to serous retinal detachments. Conclusions: BDUMP necessitates addressing the underlying malignancy for effective treatment. Left untreated, it can lead to near blindness within a year. The prognosis remains grim, with an average survival time ranging from 12 to 15.7 months from the time of diagnosis. Considering this case report, it is crucial to establish effective management plans and further investigate potential treatment methods and predictive markers centered around BDUMP. Collaboration between healthcare professionals and researchers is crucial in addressing the complexities of BDUMP, as the timely diagnosis and treatment of the disease remains a top priority.

Early and Late Complications after Cataract Surgery in Patients with Uveitis.

Background and Objectives: Uveitis, a prevalent eye disorder characterized by inflammatory processes, often leads to cataract formation and significant visual impairment. This study aimed to evaluate preoperative conditions and postoperative outcomes following cataract surgery in uveitis patients. Materials and Methods: A retrospective study was conducted at the University Hospital Center Rebro Zagreb, Croatia, involving uveitis patients who underwent cataract surgery between 2013 and 2022. Eligible patients had uveitic cataracts affecting visual acuity or posterior segment visualization in a "quiet eye" and were disease-inactive for at least three months. Patients with certain pre-existing ocular conditions were excluded. The data collected included patient demographics, uveitis type, preoperative therapy, preexisting lesions, and postoperative outcomes such as visual acuity, intraocular pressure, central macular thickness, and complications. Statistical analysis was performed to identify risk factors associated with complications. Results: This study included 105 patients. The most common uveitis types were idiopathic uveitis, HLA-B27-associated uveitis, and JIA uveitis. After cataract surgery, there was a significant improvement in visual acuity at various time points, with 90% of eyes showing improvement. Intraocular pressure decreased over time. Central macular thickness increased at three months post-surgery but remained stable thereafter. Early and late complications were observed in 52.4% and 63.8% of eyes, respectively. The most common complications were posterior capsular opacification (53.3%), macular edema (26.6%), and epiretinal membrane formation (9.52%). The factors associated with complications varied between early and late stages but included age, age at the onset of uveitis, and the uveitis type. Conclusions: In patients with quiescent uveitis undergoing cataract surgery, significant visual improvement was achieved. This study highlights the importance of careful patient selection, preoperative and postoperative inflammation management, and precise surgical techniques. Although complications were common, the risk of capsular opacification, macular edema, and epiretinal membrane formation after surgery increased. However, future investigations should address this study's limitations and further refine perioperative strategies.

EVALUATION OF VISION-RELATED QUALITY OF LIFE IN PATIENTS AFTER VITRECTOMY FOLLOWING IDIOPATHIC EPIRETINAL MEMBRANE.

PURPOSE: To evaluate the impact of different intraocular tamponades on the vision-related quality of life (VRQOL) after idiopathic epiretinal membrane (IEM) surgery with epiretinal membrane peeling. METHODS: We prospectively enrolled 50 patients diagnosed with IEM who underwent pars plana vitrectomy. Patients were consecutively assigned to either the air tamponade (air) group (25 patients) or the balanced salt solution (BSS) tamponade group (25 patients). The following data were collected before and after surgery and compared between the two groups: VRQOL, best-corrected visual acuity, intraocular pressure, metamorphopsia, contrast sensitivity, and central macular thickness. RESULTS: Pars plana vitrectomy was performed in 50 eyes. At baseline, there were no significant differences between the two groups. At 6 months postoperatively, VRQOL ( P < 0.001), best-corrected visual acuity ( P < 0.001), central macular thickness ( P < 0.001), contrast sensitivity ( P < 0.001), and metamorphopsia ( P < 0.001) improved significantly in comparison with baseline, without significant differences between the air tamponade and BSS groups. CONCLUSION: Removing IEM significantly improved visual function and VRQOL. Despite improvements, this study showed no difference postoperatively whether air or BSS tamponade was used during surgery. As a result, air tamponade may not be a mandatory treatment for IEM surgery and provides no additional advantage compared with BSS tamponade.

Pseudovitelliform maculopathy associated with hereditary hemochromatosis.

Background: Hereditary hemochromatosis (HH) is an inherited autosomal recessive iron metabolism disorder resulting from a C282Y mutation in the HFE gene. Mutations in the HFE gene may result in iron accumulation and oxidative stress in the retina, resulting in macular degeneration. This article describes two patients with HH who were treated with erythrocytapheresis or phlebotomy, with no exposure to deferoxamine or any other chelation therapy, and who developed visual symptoms. Case Presentation: Both patients had known diagnoses of HH. Because of visual symptoms, they were referred to the ophthalmology clinic and underwent a retinal exam, multimodal imaging, and electrodiagnostic studies, which revealed structural and functional degeneration of the central macula. Fundus photography, fluorescein angiography, and fundus autofluorescence revealed changes at the level of the retinal pigment epithelium (RPE) in the central macula. In addition, optical coherence tomography revealed subfoveal accumulation of hyperreflective material at and below the RPE. Multifocal electroretinography confirmed a decreased cone response, whereas the full-field electroretinogram was unremarkable. Genetic testing ruled out Best's vitelliform macular dystrophy and the other known hereditary macular dystrophies. The patients had known diagnoses of HH, homozygous C282Y mutations in the HFE gene, and no comorbidities; thus, we presumed that HH led to the observed morphological and functional disorders of the RPE, which in turn caused structural macular changes in both patients. Conclusions: Considering the macular findings and the nature of the patients' primary illness, we believe that the accumulation of iron and photoreceptor metabolic products caused dysfunction in the RPE, which led to morphological and functional changes in the macula. Because the patients were not treated using chelating agents, we attribute the macular changes solely to iron accumulation and oxidative stress caused by the pathophysiological processes of HH. Further studies are needed to identify the plausible molecular or cellular insults underlying pseudovitelliform macular degeneration in patients with HH.

Vitiligo as a First Sign of Vogt-Koyanagi-Harada Disease.

Vogt-Koyanagi-Harada (VKH) disease is a multisystem disorder characterized by bilateral granulomatous panuveitis resulting in serous retinal detachments, disk edema, and a sunset glow fundus development. Furthermore, it is associated with various extraocular findings, such as tinnitus, hearing loss, vertigo, poliosis, and vitiligo (1). VKH is considered to be an autoimmune disease mediated by T-cells targeting melanocyte antigen tyrosinase peptide (2). Moreover, VKH more often occurs in individuals with a genetic predisposition to the disease, including those of Asian and Hispanic heritage (3). Three disease categories have been recognized, including complete, incomplete, and probable VKH. Each category has different clinical features, varying from neurological and auditory manifestations to ophthalmologic and dermatologic findings (1). Herein, we present a case of chronic complete Vogt-Koyanagi-Harada disease, which started with vitiligo. CASE REPORT A forty-year-old female patient presented to the Department of Ophthalmology with photophobia, dull eye pain, and a gradual decrease in visual acuity over two months. In addition, at clinical examination, vitiligo spots were observed on the patient's hands and the periocular area. The patient's medical history revealed she had vitiligo from a young age. Additionally, she developed generalized epilepsy and headaches in adolescence. The neurologic symptoms had been treated, whereas dermatologic workup and treatment were never performed. It was also found that our patient was of Hispanic heritage, which later helped establish a diagnosis. Ophthalmologic examination revealed eye redness, hypotony, keratic precipitates, anterior chamber cells, and posterior synechiaes. Fundoscopy showed mild vitreous haze, optic disc and macular edema, chorioretinal thickening (also seen on eye ultrasound), and disturbance of retinal pigment epithelium (Figure 1). A standard diagnostic protocol for uveitis was performed. Serology for infectious causes was performed, and IgG for CMV and HSV 1 were positive. Tuberculosis testing was negative. HLA testing showed positive HLA-DR1, HLA B13/18, and HLA DQ-1 antigens. There were no cells in the intraocular fluid, and PCR of the fluid was negative for CMV and HSV 1 and 2. Considering the noninfectious uveitis, a history of neurological and dermatological disorders, and the Hispanic heritage of our patient, the diagnosis of Vogt-Koyanagi-Harada disease was established. Systemic methylprednisone in a 1.5 mg/kg dose was introduced during the first hospitalization. After slow tapering of the corticosteroid therapy, cyclosporine A in a 175 mg/day dose and azathioprine in a 100 mg/day dose were introduced for prolonged therapy. Although signs of eye inflammation were reduced, poor prognostic signs such as hypotony and optic disc edema were persistent. Therefore, the TNF-α inhibitor adalimumab was introduced. After the introduction of adalimumab, the disease was considered stable with no worsening of visual function, but vitiligo spots continued to progress (Figure 2). DISCUSSION Our case presents a chronic stage Vogt-Koyanagi-Harada disease in a person with a Hispanic heritage. VKH is a rare autoimmune disease that involves multiple organ systems, including the eyes, skin, and auditory and neurological systems. In the pathogenesis of the disease, there is an underlying granulomatous inflammation mediated by T-lymphocytes targeting melanocyte-specific antigens (4). Besides the immune response, genetics is an integral part of the etiology of the disease. HLA-DR1 and HLA-DR4 have been associated with VKH disease, specifically in the Hispanic and Asian populations (3,5). Other studies have found that VKH is more common in people of Asian and Hispanic heritage than in Caucasian or African-American individuals (6). In our case report, the Hispanic origin of our patient was essential for the diagnosis of the disease. There are four phases of VKH disease. The prodromal phase lasts a few days to a few weeks and is characterized by extraocular findings such as headache, vertigo, meningismus, and nausea (1). After the prodromal phase, the acute uveitic phase occurs, with sudden onset of blurred vision, conjunctival injection, and photophobia (1,7). Weeks to months after, the convalescent phase occurs, with signs of depigmentation such as vitiligo, poliosis, and vitiligo in the ocular limbal area, called the Sugiura sign. Finally, six to nine months after initial symptoms, the chronic recurrent phase occurs, leading to exacerbations of anterior uveitis (1). Even though most patients develop skin changes in the convalescent phase, our patients experienced skin depigmentation years before ocular involvement. VKH can be complete, incomplete, or probable. Our patient is an example of complete VKH, since she fulfilled all criteria for complete VKH, including 1) no history of penetrating ocular trauma or surgery, 2) no clinical or laboratory evidence of other ocular diseases, 3) bilateral ocular involvement, 4) neurological findings, and 5) integumentary findings (8). Treatment for VKH consists of high-dose systemic corticosteroids, administered orally or through intravenous delivery, followed by slow tapering of oral corticosteroids. Immunosuppressive therapy with cyclosporine and/or azathioprine is considered if the symptoms are persistent or worsening. In case of no improvement, biological agents such as infliximab and adalimumab are included (4).

ASSESSMENT OF NEONATAL CARE STANDARD BY THE PREDICTIVE MODEL FOR RETINOPATHY OF PREMATURITY BASED ON WEIGHT GAIN.

Care of extremely premature infants is in constant need for evaluation and progress. WINROP, a predictive model based on weight gain, has been developed to reduce the number of stressful examinations for retinopathy for prematurity. Validation studies of WINROP emphasize the difference of applicability in neonatal units of various practice. The aim of the study was to assess the standard of neonatal care by WINROP. Data on extremely premature infants were collected from medical records and entered in WINROP. High- and low-risk WINROP distribution and retinopathy of prematurity outcomes were analyzed. Fifty-four infants, gestational age ≤28 weeks, were included in the study after exclusion of weight related comorbidities. High risk was noted in 74% (n=40) of infants with 24% (n=13) developing retinopathy of prematurity requiring treatment. In low alarm group, there were 3 cases with severe disease. In conclusion, WINROP is not just a provider of predictive information on the severity of retinopathy of prematurity. High-risk alarm indicates the need of adjustment of nutritional strategies. Infants without pathological growth morbidities who develop severe retinopathy of prematurity in low-risk group point to other risk factors for retinopathy of prematurity to be evaluated and changed in future practice.

Long-Term Functional Hyperemia after Uncomplicated Phacoemulsification: Benefits beyond Restoring Vision.

The purpose of the study was to investigate the long-term effects of uncomplicated phacoemulsification on macular perfusion using optical coherence tomography angiography (OCTA) in healthy aging subjects. OCTA was performed before phacoemulsification and 1 week, 1 month, 3 months, and 6 months after. Superficial vascular complex (formed of nerve fiber layer vascular plexus and superficial vascular plexus), deep vascular complex (formed of intermediate capillary plexus and deep capillary plexus), as well as choriocapillaris (CC) and large choroidal blood vessels were recorded. Significant changes of vascular parameters in 95 eyes of 95 patients reached plateau 1 week after surgery and remained stable up to 6 months, occurring in all retinal layers but not in choroid and CC. Statistically significant increases in retinal vessels area, vessels percentage area, total number of junctions, junctions density, and total and average vessels length were found, followed by the total number of end points and mean lacunarity decline, proving an increase in blood supply. The study confirmed that uncomplicated phacoemulsification leads to a long-term increase in macular retinal perfusion. The results might ease the decision regarding timing for cataract surgery as long-term perfusion benefits can be achieved. Furthermore, study results provide a normative database of retinal and choroidal vasculature in healthy aging patients.

Herpes Zoster Opthalmicus-Related Ophthalmoplegia: Anatomical, Pathogenetic, and Therapeutic Perspectives.

OBJECTIVE: To investigate the anatomical, pathogenetic, and pharmacological characteristics of herpes zoster ophthalmicus (HZO)- related ophthalmoplegia. METHODS: Case report-based systematic review was performed. RESULTS: This study included 96 patients (54 [56.25%] women and 42 [43.75%] men [P = 0.221]). The mean age at presentation was 64.32 ± 17.48 years. All the patients included in the study had HZO- related ophthalmoplegia, with rash presenting as initial symptom in 87 (90.62%) cases, and diplopia in 9 (9.38%) cases. Thirty-seven (38.54%) patients achieved complete recovery, whereas 59 (61.46%) patients had permanent ophthalmoplegia. Females recovered in 26/54 cases and males in 11/42 cases (P = 0.028). Recovery rates after peroral versus intravenous antivirals (15/38 versus 19/46) and > 10 days versus ≤10 days antiviral treatment (22/54 versus 12/30) did not significantly differ ( P = 0.865 and P = 0.947, respectively). immunocompetent patients treated with corticosteroids had significantly better recovery rates compared to immunodeficient counterparts (17/34 [50.00%] and 5/22 [22.73%], respectively [ P = 0.041]). CONCLUSIONS: The outcome of HZO-related ophthalmoplegia is associated with gender, immune status, corticosteroid use, and time of antiviral treatment initiation.

BILATERAL SEROUS CHORIORETINOPATHY AND PIGMENTARY GLAUCOMA - WHAT IS THE ASSOCIATION?

We present a patient with concurrent pigmentary glaucoma, bilateral central serous chorioretinopathy and unilateral optic disc pit, and propose a possible association of these conditions. Comprehensive ophthalmic examination of a 36-year-old man who was complaining of blurry vision and pain in the eyes showed reduced visual acuity on the left eye, elevated intraocular pressure in the right eye, bilateral signs of pigment dispersion syndrome, and bilateral central serous chorioretinopathy, combined with optic disc pit in the left eye. Visual field and optical coherence tomography findings demonstrated functional and structural glaucoma changes. Choroidal circulation abnormalities were observed by angiographic methods. Genetic and developmental anomalies of the external layer of the optic disc cup that gives rise to many anterior and posterior eye segment structures suggest a possible association of a clinical condition characterized by the combination of pigmentary glaucoma, central serous chorioretinopathy and optic disc pit. Future research would enable to determine proper diagnostic protocols, treatment and follow-up procedures for this chronic-progressive disorder.

LENS CARE COMPLIANCE RATES AND PERCEPTIONS AMONG RIGID GAS PERMEABLE CONTACT LENS WEARERS - A PILOT STUDY.

The aim was to estimate compliance rate among rigid gas permeable lens wearers (RGPLW) in lens system care, identify procedures in lens care process with poorest compliance levels, and assess concordance between participant reported practices and their subjectively perceived compliance. The study included outpatient RGPLW managed at Zagreb University Hospital Center in Zagreb, Croatia. They filled out a questionnaire that included demographic data, duration of lens wear, self-evaluation compliance grade, and 14 lens care procedures and wearing habits indicative of compliance. There were 50 patients (mean age 34.6 years, 68% female). Full compliance was found in a single patient. The mean number of non-compliant procedures was 5.48, with 32% of participants non-compliant in more than 50% of the compliance criteria. Critical procedures of the lens care process were infrequent lens case exchange (74%), using tap water for lens (70%), and improper case cleaning (68%). The mean lens case replacement time was 9.8 months (SD 6.76), with only 26% of patients replacing lens case at least once in 3 months. Excessive daily lens wear was associated with greater total number of non-compliant procedures (p<0.0008). RGPLW were aware of their inappropriate lens care only when achieved non-compliance in almost 50% of the procedures. In conclusion, lens wearers were not aware of their extremely low compliance rate in several aspects of lens and lens case maintenance. Study results indicated the key procedures the practitioners should focus on when evaluating subjective and objective compliance and reinforcing care and hygiene education of RGPLW.

Bilateral juxtapapillary choroidal neovascularization secondary to Birdshot chorioretinopathy-case report.

Central vision loss, photopsia, floaters, and macular edema in a highly myopic patient can easily be misinterpreted as high myopia complications. In atypical cases, detailed examination and a thorough diagnostic workup are required to establish the proper diagnosis, which is often beyond the scope of diagnoses initially considered.

Ultrasound Biomicroscopy Documented Anterior Uveal Melanoma Regression after Ruthenium-106 Plaque Therapy.

INTRODUCTION: Ultrasound biomicroscopy (UBM) is the only widely used method for the evaluation of anterior uveal melanoma (AUM). OBJECTIVE: Documentation of regression of AUM treated with ruthenium-106 (Ru-106) plaque types CCB and CCC using UBM. METHODS: This single institution-based retrospective case series involved 10 Caucasian patients with AUM followed after brachytherapy with UBM from January 2014 until February 2019. The largest prominence of the tumor perpendicular to the sclera or the cornea (including scleral/corneal thickness) (D) and the largest basal dimension (B) were measured in millimeters with UBM for all patients prior to the brachytherapy and at 4-month interval follow-up. Tumor regression was calculated as a percentage of decrease in the initial D and B values. RESULTS: The study involved 10 patients with a mean age of 64.4 years (yr) (range 46-80 yr). D ranged from 1.82 to 5.5 mm (median 2.99 mm) and B from 2.32 to 12.38 mm (median 4.18 mm). The apical radiation dose in all patients was 100 Gy. The median follow-up was 42.02 months. Regression for D was 21.11 ± 13.66%, 31.09 ± 14.66%, and 34.92 ± 19.86% at 1st, 2nd, and 3rd year of the follow-up, respectively, while for B it was 21.58 ± 16.05%, 28.98 ± 17.71%, and 32.06 ± 18.96%, respectively. Tumor recurrence was documented in 2/10 patients. CONCLUSION: The major regression of AUM, treated with Ru-106 plaque types CCB and CCC, was documented in the first 2 years after brachytherapy in our study group. In the following years, only minimal regression was documented that warns of the need for close monitoring and active search for local recurrences.

Macular perfusion analysed by optical coherence tomography angiography after uncomplicated phacoemulsification: benefits beyond restoring vision.

BACKGROUND: The purpose of the study is to investigate the changes of macular perfusion by OCT-angiography (OCT-A) after uncomplicated phacoemulsification. METHODS: OCT-A was performed before cataract surgery, 1 week, 1 month, and 3 months after surgery recording superficial vascular complex (SVC), nerve fiber layer vascular plexus (NFLVP), superficial vascular plexus (SVP), deep vascular complex (DVC), intermediate capillary plexus (ICP) and deep capillary plexus (DCP), as well as large choroidal blood vessels and choriocapillaris (CC). Explant area (EA), vessels area (VA), vessels percentage area (VPA), total number of junctions (TNJ), junctions density (JD), total vessels length (TVL), average vessels length (AVL), total number of end points (TNEP), and mean lacunarity (ML) throughout all layers were analysed. RESULTS: Significant changes of vascular parameters in 55 eyes of 55 patients mostly reached plateau one week after surgery and remained stable up to 3 m after surgery, occurring in all retinal layers but not in choroid and CC. The greatest increase in VPA (22.79%), TVL (16.71%), AVL (166.71%) and JD (29.49%) was in SVC. On the contrary, the greatest change of ML (- 53.41%) appeared in DVC. CONCLUSIONS: This is the first OCT-A study demonstrating perfusion alterations in macula after phacoemulsification due to functional hyperaemia. We presume the effect is evoked by increased light intensity stimulation of retina after cataract removal. Accordingly, phacoemulsification in elderly population could have advantageous feature in addition to restoring visual acuity.

Quality of life in children suffering from juvenile idiopathic arthritis-associated uveitis.

Uveitis (JIA-U), the most common extra-articular manifestation in juvenile idiopathic arthritis (JIA), may cause severe impairment of vision in children and affect their quality of life (QoL). Considering the lack of uveitis-related QoL assessment questionnaire, and multidimensional nature of the Juvenile Arthritis Multidimensional Assessment Report (JAMAR), commonly used for monitoring and assessing the health status of children with JIA, we performed a cross-sectional study to investigate the potential of the JAMAR in estimation of QoL in children suffering from JIA-U. The study included 42 children with JIA, 21 of whom had JIA-U. Both children and their parents completed the JAMAR. We compared two groups of children (JIA-U and JIA without uveitis) and their parents against five extracted questionnaires items (QoL, functional ability, pain level, disease activity estimation, and current emotional state of the child) using the independent-samples t test to verify the differences and the Pearson correlation coefficient to measure the strength of a linear association between variables. No significant statistical difference in any of the examined variables was found between the two groups of children. In the groups of parents, current emotional state of children with JIA-U was assessed to be significantly worse (t = 2.05, p < 0.05) and the overall level of functioning significantly lower (t = 2.03, p < 0.05) than children without uveitis. Our results suggest the need for adding the uveitis-specific questionnaires items to JAMAR to improve its sensitivity and specificity in the assessment of QoL in children suffering from JIA-U, as well as designing a second assessment tool such as uveitis-specific questionnaires.

POOR POSTNATAL WEIGHT GAIN AS A PREDICTOR OF RETINOPATHY OF PREMATURITY.

The purpose of this study was to re-evaluate cut-off values used in screening for retinopathy of prematurity (ROP) in Croatia and to propose postnatal weight gain as an additional criterion, based on the Colorado Retinopathy of Prematurity prediction model. Medical records of 267 premature infants from the Zagreb University Hospital Centre that underwent ROP screening between January 2009 and December 2010 were reviewed retrospectively. Collected data included gestational age, birth weight, sex, weekly weight measurements and fundus examination records. Results showed the cut-off values of gestational age (GA) and birth weight (BW) used in Croatia to be appropriate and postnatal weight gain in the first 28 days could be used as an additional criterion on screening in the following way: net weight gain in the first 28 days of ≤932 g for prediction of any form of ROP and of ≤660 g for prediction of severe ROP should be added to the existing criteria of GA (≤32 weeks) and/or BW (≤1500 g). Infants with a non-physiological postnatal weight gain are exception. This is the first Croatian study to propose postnatal weight gain as an additional criterion on ROP screening and requires further validation on a larger sample of Croatian infants.

Complication and prognosis of juvenile idiopathic arthritis associated uveitis in the era of modern immunomodulatory treatment.

JIA is the most common rheumatic disease of childhood and JIA-U is its most frequent and most devastating extraarticular manifestation. This form of uveitis is usually asymptomatic, chronic anterior uveitis, often accompained with complications. JIA-U is the main cause of vision loss and even blidness in childhood. Thus, screening for JIA-U in all JIA patients and early treatment is of prime importance. Over the last 15-20 years, ever since IMT has been used, studies generally show trends toward decrease of JIA-U onset, complications frequency, improvement of prognosis and remission achievement. Despite evident improvements, over 20% JIA-U patients still develop complications in long-term follow-up. Moreover, about 50% JIA-U patients continue to have active uveitis in adulthood. Therefore, JIA-U is still associated with high risk of late sequelae and visual acuity loss, functionally and structurally eye damage and quality of life impairment.

Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene: a case report.

Gyrate atrophy (GA) of the choroid and retina is a rare autosomal recessive disorder that occurs due to deficiency of the mitochondrial enzyme ornithine aminotransferase (OAT). Hyperornithinemia causes degeneration of the retina with symptoms like myopia, reduced night vision and progressive vision loss. Our patient is a 10-year-old girl with impaired vision and strabismus. As part of the metabolic work-up, plasma amino acid analysis revealed significantly increased concentration of ornithine (1039 µmol/L; reference interval 20 - 155 µmol/L). Molecular genetic analysis revealed homozygous mutation in exon 7 of the OAT gene that has not been reported previously (c.868_870delCTT p.(Leu290del)). This in frame deletion was predicted to be deleterious by in silico software analysis. Our patient was treated with pyridoxine (vitamin B6 in a dose of 2 x 100 mg/day), low-protein diet (0.6 g/kg/day) and L-lysine supplementation which resulted in a significant reduction in plasma ornithine concentrations to 53% of the initial concentration and the ophthalmologic findings showed significant improvement. We conclude that low protein diet and lysine supplementation can lead to long-term reduction in plasma ornithine concentrations and, if started at an early age, notably slow the progression of retinal function loss in patients with GA. The effect of therapy can be reliably monitored by periodical measurement of plasma ornithine concentration. To our knowledge, this is the first report of OAT deficiency in Croatia.

Improvement of neurological and ocular symptoms of Behçet's disease after the introduction of infliximab.

Behçet's disease is a chronic inflammatory condition of unknown origin characterized by multiple organ involvement. The most common symptoms of Behçet's disease are recurrent oral and/or genital ulcerations in combination with symptoms affecting eyes, skin, central and peripheral nervous system, blood vessels and gastrointestinal tract. We present a 43-year-old female patient with the history of recurrent episodes of genital and oral ulcerations, elevated acute phase reactants and skin lesions. The diagnosis of Behçet's disease has been delayed (for more than 10 years) and reached only after she developed neurological and ocular symptoms. Treatment with glucocorticoids and azathioprine was partially successful. High doses of glucocorticoids were needed to control the disease and cyclosporine A was nephrotoxic. Remission was reached after the introduction of infliximab (plus methotrexate) and glucocorticoids were stopped. In the recent years, infliximab has been accepted as a standard therapy for refractory cases of Behçet's disease (neurological, ocular or gastrointestinal). Our patient presented with refractory ocular and neurological symptoms and infliximab was effective for both manifestations. Long-term side-effects of glucocorticoids and other immunosuppressants can be avoided with TNF-α blockade. We emphasize the importance of a timely and accurate diagnosis and significance of excluding more common diseases in a work-up algorithm.