Development of Posterior Uveitis in Behçet Syndrome Patients with Vitreous Cells at Baseline.

PURPOSE: The prognostic importance of vitreous cells (VC) in patients with Behçet syndrome (BS) is unknown. We aimed to determine the frequency of developing posterior uveitis (PU) and any additional risk factors associated with the development of PU in BS patients with VC at diagnosis. METHODS: The charts of 572 consecutive BS patients who were registered between 2010 and 2012 were reviewed. Among the patients with a follow-up of ≥2 years, we included 110 patients with VC in one or both eyes and 147 patients without any eye findings in both eyes at baseline and compared them for the development of PU. RESULTS: Among the 110 included patients with VC, 61 had VC in both eyes, 34 had VC in only one eye, and 15 had VC in one eye and PU in the other eye. There was anterior uveitis (AU) in addition to VC in the same eye in 13 patients at baseline. PU developed in 24 (22%) of these patients during a mean follow-up of 1.9 ± 1.1 years. This was significantly more frequent than the 147 patients without any eye findings at baseline, among whom there were only 2 patients who developed PU (p < 0.001). Multivariate logistic regression analysis showed that having AU in addition to VC in the same eye (OR, 5.03, 95% CI; 1.37-18.47) was an independent risk factor for the development of PU in patients with VC. CONCLUSION: Careful follow-up is required for patients with VC at diagnosis, since 22% developed PU within 2 years.

A Proposal of a New Tool for the Assessment of Damage in Behçet Syndrome Uveitis: Cerrahpasa Ocular Damage Grading System.

INTRODUCTION/OBJECTIVE: There is currently no tool available to assess the severity of damage in uveitis due to Behçet's syndrome (BS). In this preliminary study, we developed a new grading system to evaluate ocular damage and assessed it in a prospective cohort. METHODS: A specialist in BS uveitis (YO) developed a grading system for ocular damage with five grades based on the extent of damage in the posterior segment. YO trained a senior and general ophthalmologist with sample fundus images. BS patients who had undergone color fundus photography during their routine visits in attack-free periods were included in the study. The color fundus photos of this prospective cohort were evaluated blindly by YO and his trainees using the new grading tool. Inter and intra-observer agreement between the graders were assessed by Cohen's kappa analysis. The evaluation of YO was considered as the gold standard. RESULTS: One hundred eighty-five eyes of 108 (29 F/79 M) patients with BS uveitis were graded for damage by two investigators. Their mean age was 38,58 years and their median ocular disease duration was 13 years. The gold standard and the two investigators exhibited substantial concordance with the ocular damage grading system. The inter- and intra-observer agreement were also almost perfect. CONCLUSION: The newly developed ocular damage grading system enables the standardization of damage severity in BS uveitis. It is imperative to conduct internal and external validations across diverse cohorts. Furthermore, future studies should investigate its correlation with other multimodal imaging methods such as fluorescein angiography and optical coherence tomography.

Investigation of optic nerve function in Behçet's patients with optic disc hyperfluorescence in fundus fluorescein angiography.

PURPOSE: The aim was to investigate the changes in optic nerve function that may help in the diagnosis of subclinical optic nerve involvement in patients with Behçet's disease (BD) and isolated optic disc (OD) hyperfluorescence in fluorescein angiography (FA). MATERIALS AND METHODS: Three groups were formed; BD patients with isolated OD hyperfluorescence in FA, BD patients without ocular involvement (normal FA) and control group. A total of 88 eyes of 45 patients were included. The groups were compared in terms of OCT-RNFL, contrast sensitivity and VEP latency. RESULTS: When the OCT-RNFL values were compared, there was a significant difference between the control group and Behçet's patients with normal FA. Contrast sensitivity values differed significantly among the groups, and the lowest mean contrast sensitivity was observed in the group with OD hyperfluorescence (p < 0.05). CONCLUSION: As far as we know, this is the first publication that investigates optic nerve function in BD patients with isolated OD hyperfluorescence in FA. Assessment with FA of asymptomatic BD patients with visual complaints and low contrast sensitivity may be helpful at early detection of inflammatory optic neuropathy by close follow-up in patients with OD hyperfluorescence.

Penetrating Keratoplasty in Congenital Glaucoma.

BACKGROUND: Childhood glaucoma is one of the most common causes of corneal opacity in childhood and is associated with various pathological corneal changes, including corneal enlargement, corneal clouding, and edema. Congenital glaucoma (CG) may cause a decrease in vision outcomes due to corneal opacity or clouding, which is often associated with stimulus deprivation amblyopia. Therefore, to create a balance between preventing amblyopia and sustaining corneal clearance, patients with CG can be managed with early penetrating corneal transplantation surgery along with advanced glaucoma management. AIM: To investigate the graft survival rate and factors affecting graft survival in patients with congenital glaucoma who underwent penetrating keratoplasty (PKP). STUDY DESIGN: Cross-sectional. MATERIALS AND METHODS: Patients with congenital glaucoma who underwent PKP were retrospectively evaluated. The associations between age, corneal diameter, presence of ocular comorbidities, concurrent ocular surgeries with corneal graft, and visual outcomes were assessed. RESULTS: Among the 30 eyes enrolled in the study, 6 (20%) had aniridia, 6 (20%) had Axenfeld-Rieger syndrome, and 18 (60%) were diagnosed with primary congenital glaucoma. Graft survival rates were 66.6% and 63.33% at 12 and 24 months, respectively. At the end of the follow-up, the overall graft survival rate was 60%. Statistical significance was observed between patient age at the time of surgery and graft failure (p = 0.02). Graft failure was associated with a younger patient age. Functional vision was achieved in 53.3% of patients. CONCLUSIONS: The management of congenital glaucoma and its corneal complications is a delicate issue that requires great effort. PKP in congenital glaucoma was moderately successful in the present study. To provide functional vision, PKP could be the treatment of choice.

Retinal Microvascular Changes in Internal Carotid Artery Stenosis.

Purpose: We aimed to analyze retinal microvascular parameters, measured by optical coherence tomography angiography in patients with internal carotid artery stenosis compared to healthy individuals. Materials and Methods: A total of 41 eyes from 30 patients who had varying degrees of carotid stenosis, and 42 eyes from 42 healthy controls, were enrolled in this study. Depending on the degree of stenosis evaluated by Doppler ultrasonographic imaging, the patient group was further subclassified into mild, moderate, and severe carotid artery stenosis. Superficial and deep capillary plexus vessel densities, radial peripapillary capillary vessel density, foveal avascular zone, and flow densities in the choriocapillaris and outer retina were evaluated by optical coherence tomography angiography. Results: The superficial and deep capillary plexus vessel densities were significantly reduced among the groups, only sparing the foveal region. The mean superficial plexus vessel density was 45.67 ± 4.65 and 50.09 ± 4.05 for the patient and control group, respectively (p = 0.000). The mean deep capillary plexus density was 46.33% ± 7.31% and 53.27% ± 6.31% for the patient and control group, respectively (p = 0.000). The mean superficial and deep capillary vessel densities in the foveal region did not show any statistical difference between the patient and control groups (p = 0.333 for the superficial and p = 0.195 for the deep plexus vessel density). Radial peripapillary capillary vessel density was decreased in the patient group (p = 0.004). The foveal avascular zone area was wider in the patient group but this difference did not show a significant difference (p = 0.385). Conclusions: Retinal microvascular changes are a prominent outcome of internal carotid disease, and even mild stenosis can lead to alterations in the retinal microvascular bed which could be detected by OCTA. By early detection of microvascular changes in the retina in this patient group, we might speculate the overall vascular condition.

Mycophenolate mofetil may be an alternative for maintenance therapy of Behçet syndrome uveitis: a single-center retrospective analysis.

Experience with mycophenolate in uveitis due to Behçet syndrome (BS) is limited. Twelve patients with panuveitis or posterior uveitis who were started mycophenolate were included. Data on demographic characteristics, therapies, ocular attacks, and adverse events were extracted from patient charts. Seven patients with BS uveitis were prescribed mycophenolate for remission induction, of which 6 were refractory/intolerant to conventional immunosuppressives. Mycophenolate was combined with anti-TNFs in 3 patients, resulting in no further ocular attacks. Mycophenolate had to be stopped in the fourth patient due to adverse events. The remaining 3 patients continued to have ocular attacks and were switched to other agents without any drop in visual acuity. Among the 5 patients who were prescribed mycophenolate for maintenance, 2 were relapse free, but 3 experienced ocular attacks. One patient had an exacerbation of mucocutaneous lesions, and 2 experienced adverse events. Mycophenolate monotherapy may not be adequate for remission induction of refractory BS uveitis, but it can be a safe and effective alternative when combined with a biologic agent. It may also be an option for maintenance therapy.

Pseudomelanoma: occult intraocular foreign body mimicking choroidal melanoma.

Purpose: To report an occult intraocular foreign body mimicking choroidal melanoma. Methods: Medical records and imagings of the patient were retrospectively reviewed. Case description: A 76-year-old male was referred to our ocular oncology clinic with a suspicious hyperpigmented retinal lesion in the left eye. Biomicroscopy showed aphakia and peripheral iridectomy in the left eye. Fundoscopy revealed a pigmented, slightly elevated lesion on the macula of the left eye surrounded by diffuse atrophy. B-scan ultrasonography showed a preretinal hyperechoic lesion with posterior shadowing. There was no choroidal mass in B-scan or optical coherence tomography (OCT) imaging. On further questioning, it was disclosed that the patient had been hit by an iron fragment in the left eye forty years ago. Conclusion: Choroidal melanoma is a vision- and life-threatening intraocular malignant tumour. Various neoplastic, degenerative, and inflammatory conditions can simulate choroidal melanoma. A previous history of penetrating ocular trauma should lead the surgeon to re-evaluate a diagnosis of melanoma.

Bilateral plaque like macular atrophy and pigmentary retinopathy in an infant with a missense mutation in the MFF gene.

PURPOSE: Ocular involvement has been shown in many of the primary mitochondrial diseases. Herein, we report a pediatric case of an extraordinary fundus appearance of bilateral plaque-like macular atrophy and hypopigmented flecks with homozygous MFF gene mutation. METHODS: A case report. RESULTS: An eighteen-month-old male infant presented with a lack of object tracking which was recognized in the last few months. Along with regression in normal development, myoclonic epilepsy signs and encephalomyelopathy were detected. Therefore, the patient was evaluated for mitochondrial diseases. Fundus examination revealed bilateral fine hypopigmented lesions in retinal pigment epithelium at midperiphery and periphery. Additionally, there was bilateral geographic atrophy that was separated from the adjacent normal retina with distinct borders in the fovea. Homozygous pT198A (c.592A>G) missense variation was detected in the MFF gene. CONCLUSION: Maculopathy could be encountered in patients with MFF gene variation. Specific variants or some undiscovered genomic mutations may be the reason for this novel clinical appearance.

Comparison of Endoscopically Assisted Primary Probing and Bicanalicular Silicone Intubation for Congenital Nasolacrimal Duct Obstruction in Children Aged 4 to 7 Years.

PURPOSE: To compare the clinical outcomes of primary nasolacrimal duct probing and primary bicanalicular intubations with endoscopic assistance for congenital nasolacrimal duct obstruction (CNLDO) in children aged 4 to 7 years. METHODS: Forty-three eyes of 43 children (25 boys and 18 girls) with congenital epiphora who underwent primary unilateral probing and bicanalicular intubation were evaluated retrospectively. The tubes were removed 3 to 4 months after their placement, and the children were followed up for another 6 months after their removal. Treatment success was defined as the normal result of the fluorescein dye disappearance test and complete resolution of the lacrimal symptoms and signs of patients. The success rates were compared between the two groups (bicanalicular intubation vs probing). Type of CNLDO (membranous, incomplete complex, and complete complex) was determined with an endonasal endoscope. RESULTS: The mean age was 63.3 ± 11.1 months (range: 48 to 84 months) for the probing group and 64.4 ± 12.1 months (range: 48 to 84 months) for the bicanalicular intubation group (P = .915). The bicanalicular intubation group showed significantly greater treatment success (21 of 24, 87.5%) compared to the probing group (11 of 19, 57.9%; P = .038). Bicanalicular intubation provided higher treatment success among patients with complex CNLDO compared to probing (80.0% vs 11.1%, P = .002). There was no difference in mean age between the patients with successful and failed treatment in both groups (P = .631 and .137, respectively). CONCLUSIONS: Bicanalicular intubation was associated with a higher success rate than probing under nasal endoscopic visualization for the treatment of CNLDO in children aged 4 to 7 years. The type of CNLDO might be the primary factor for the treatment success. [J Pediatr Ophthalmol Strabismus. 2023;60(2):101-107.].

Pigmentary retinopathy with perivascular sparing in a SOFT syndrome patient with a novel homozygous splicing variant in POC1A gene.

PURPOSE: SOFT syndrome is an extremely rare inherited dwarfism syndrome. The syndrome has four major clinical manifestations: short stature, onychodysplasia, facial dysmorphism, and hypotrichosis. Herein, we report a unique case of a SOFT syndrome with findings of pigmentary retinopathy. METHODS: Case report. RESULTS: A 3-year boy was referred to our clinic for ophthalmologic examination from Genetic Diseases Diagnosis Center. In ophthalmic examination, anterior segment was normal bilaterally in biomicroscopy. Fundus examination revealed bilateral yellow-white punctate retinal pigment epithelium lesions located in the midperipheral retina. Macula optical coherence tomography was bilaterally normal. Whole exome sequencing (WES) analysis revealed a homozygous intronic splice site variant (c.103 + 1 G>T) in POC1A, hemizygous intronic splice site variant (c.459-5T>A) in TBX22, and a heterozygous missense variant (c.2254 C>T) in DDR2 genes. CONCLUSION: There is a limited number of reported cases with SOFT syndrome and, though retinal findings in SOFT syndrome have been reported in two cases previously, none were given in detail. According to our findings, perivascular and macula sparing midperipheral retina pigment epithelium changes could be observed in patients with SOFT syndrome.

Multimodal imaging of a sporadic retinal astrocytic hamartoma simulating retinoblastoma in a newborn.

Introduction: To report a sporadic astrocytic hamartoma simulating retinoblastoma in a newborn. Methods: Clinical data was reviewed retrospectively. Results: A 3-month-old baby with a history of perinatal asphyxia was referred to our ocular oncology clinic with suspected retinoblastoma in the left eye. Dilated fundoscopy revealed a solitary tumor covering the optic disc at the left eye. The whitish-yellow lesion was well-defined, opaque, and minimally calcified. High internal reflectivity and posterior shadowing due to the intralesional calcification, and intratumoral cystic spaces were observed in B-scan ultrasound imaging. Optical coherence tomography imaging showed an intraretinal tumor with cystic spaces and posterior shadowing. The tumor was diagnosed as an astrocytic hamartoma. The systemic evaluation was negative for phacomatoses. The lesion has been observed with multimodal imaging for six years without significant changes. Conclusions: Retinal astrocytic hamartomas are benign tumors that arise within the retinal nerve fiber layer. Differential diagnosis constitutes high importance since they may be misdiagnosed as retinoblastoma, and therefore may be overtreated. Whereas retinoblastoma requires immediate treatment, retinal astrocytic hamartomas are commonly followed-up. Multimodal imaging with B-scan ultrasonography and optical coherence tomography are useful in distinguishing those two entities.

Demographics and etiologic characteristics of non-glaucomatous optic atrophy: a single-center cross-sectional study from Turkey.

BACKGROUND: Optic atrophy is an end-stage pathology of optic nerve diseases that is characterized by optic nerve pallor and vision loss. Because of its sight-threatening effects, understanding its epidemiology and etiology is crucial. In this study, we aimed to determine the epidemiologic features of optic nerve pathologies which lead to optic atrophy. METHODS: This is a cross-sectional study in which, medical records of optic atrophy patients who were followed up in our clinic between 1999 and 2020 were evaluated. Three hundred and sixty eyes of 226 patients were included in the study. Demographic data were received from the patients' files. Patients with glaucomatous optic atrophy, consecutive optic atrophy and patients with less than a year follow-up were excluded from the study. RESULTS: The most frequent reason of optic atrophy was central nervous system diseases (27.43%) followed by secondary non-arteritic ischemic optic neuropathy (26.99%). The most frequent etiology of optic atrophy was non-arteritic ischemic optic neuropathy in males and central nerve system-related pathologies in females. The highest presentation age (mean 63.6 ± 17.85 years) was observed in arteritic ischemic optic neuropathy and central nerve system-related optic atrophy had the lowest presentation age (median 14 years, IQR [34]). CONCLUSION: Central nerve system diseases and non-arteritic ischemic optic neuropathies were the most common causes of non-glaucomatous and non-consecutive optic atrophy in Turkey. Better understanding of underlying etiologies of optic atrophy may lead us to take precautions timely for irreversible optic nerve dysfunction which is an important reason of blindness.

Low levels of soluble low-density lipoprotein receptor-related protein 1 in patients with type 2 diabetes mellitus and diabetic retinopathy.

Low-density lipoprotein receptor-related protein-1 (LRP-1) is a large transmembrane receptor. LRP-1 plays a role in diverse cellular processes, including lipid metabolism, cell growth, migration, and regeneration. Soluble form of LRP-1 (sLRP-1) can be detected in serum. sLRP-1 can serve as a biomarker of atherosclerosis and cardiometabolic diseases. This study investigated the concentrations of the circulating serum sLRP-1 in patients with retinopathy and type 2 diabetes mellitus. Fifty-two patients with diabetic retinopathy and 71 controls were enrolled based on well-defined eligibility criteria. Venous blood samples were collected after 12 h of fasting. sLRP-1 concentrations were measured using the commercially available ELISA in an accredited laboratory. The mean age of patients and control groups were 63.6 and 48.5 years, respectively. The median disease duration was 8.1 years. The median serum sLRP-1 levels were lower in patients with diabetic retinopathy compared to the controls (2.11 µg/mL versus 2.44 µg/mL, p = 0.034). No significant correlation was observed between the sLRP-1 and serum lipid levels. The sLRP-1 levels are low in patients with diabetic retinopathy compared to healthy controls, and future studies are needed to assess sLRP-1 as a potential biomarker in diabetic retinopathy.

Corneal Endothelial Changes in Patients With Primary Congenital Glaucoma.

PRCIS: Specular microscopic parameters were found to be decreased in patients with primary congenital glaucoma (PCG). Patients with PCG and Haab striae had lower endothelial cell density (ECD) and central corneal thickness (CCT) than those without Haab striae did. The type of surgery (viscogoniotomy, viscotrabeculotomy, or combined viscotrabeculotomy and trabeculectomy) did not affect specular microscopic parameters. PURPOSE: The purpose of this study was to compare specular microscopic parameters such as corneal ECD, coefficient of variation (CV), hexagonal cell percentage (HEX), and CCT between patients with PCG and healthy controls; to determine the predictive ability of Haab striae for endothelial cell changes PCG by comparing patients with and without Haab striae; and to investigate if the type of surgery used to treat glaucoma (viscogoniotomy, viscotrabeculotomy, or combined viscotrabeculotomy and trabeculectomy) affects specular microscopic parameters. METHODS: A cross-sectional specular microscopic analysis of patients with PCG and healthy controls was performed. One hundred eyes of 62 patients with PCG with and without Haab striae and 101 eyes of 101 healthy controls were enrolled in this study. Specular microscopic parameters, including ECD, HEX, CV, and CCT, of all subjects were evaluated. RESULTS: Patients with PCG showed significantly lower ECD and CCT than healthy controls did. Those with Haab striae had lower ECD and CCT but no differences in age, HEX, and CV compared with those without Haab striae. ECD, CV, HEX, or CCT did not significantly differ among patients treated with the 3 different types of surgery. CONCLUSIONS: Prolonged exposure to elevated intraocular pressure during prenatal and/or early postnatal life results in structural changes in immature infant corneas. Specular microscopic parameters differed significantly between healthy controls and patients with PCG. The type of surgery had no effect on these parameters. Among patients with PCG, those with Haab striae had isolated corneal endothelial cell loss without morphologic changes within the endothelium.

An unusual ophthalmic presentation of Wolf-Hirschhorn syndrome.

Purpose: Wolf-Hirschhorn syndrome (WHS) is a rare inherited disease caused by the deletion in short arm of 4th chromosome. Various ocular manifestations in WHS have been described previously. We present an extraordinary clinical case of WHS associated with optic nerve head malformation and optic nerve sheath enlargement in the same eye.Methods: Case reportResults: A male infant was delivered by Caesarean section at 38 weeks with a birth weight of 2040 gr and admitted to neonatal intensive care unit due to multi-systemic abnormalities. The infant had multiple congenital anomalies; a cleft palate, microcephalia, micrognathia, renal pelvicalyceal ectasia, atrial septal defect, transvers arcus hypoplasia, patent ductus arteriosus, hypospadias and undescended testicle. Fundus examination revealed optic disc coloboma of both eyes. Two weeks later, at the second examination, the left optic disc margins were indistinct with vessels radiating from the disc margins which resembles morning glory disc anomaly (MGDA). The MRI demonstrated corpus callosum agenesis and a T1 hypointense, T2 hyperintense, 12 × 9 mm optic nerve sheath enlargement in the retrobulbar area.Conclusion: The case presented here demonstrates that, the optic nerve head malformations and optic nerve sheath enlargement may be due to incomplete closure of choroidal fissure and subsequent accumulation of cerebrospinal fluid may result in a spectrum of optic nerve head malformations.

Superselective intra-arterial chemotherapy treatment for retinoblastoma: clinical experience from a tertiary referral centre.

OBJECTIVE: To evaluate the treatment outcomes of an alternative retrograde superselective ophthalmic artery catheterization (intra-arterial chemotherapy [IAC]), while treating retinoblastoma patients. METHODS: A retrospective review of IAC for 21 treatment-naïve eyes (21 patients, primary group) and 10 eyes of previously treated 9 patients (secondary group). Statistical analysis was performed using Number Cruncher Statistical System 2007, Kaplan-Meier survival analysis, and Fisher's exact test. RESULTS: Total fluoroscopy time ranged from 3 to 12 minutes. Globe salvage was 71.4% (15/21 eyes) and 80% (8/10 eyes) in the primary and secondary groups, respectively. Globe salvage rates were recorded as 100%, 100%, 70%, and 0% for group B, C, D, and E patients, respectively. CONCLUSIONS: Retrograde IAC is effective in tumour control with shorter fluoroscopy time and acceptable complication rates both for naïve and treated patients. Furthermore, controlling retinoblastoma in advanced group D eyes was efficacious.