Search Results (168)

Retinoblastoma is a rare but malignant pediatric retinal tumor, affecting 1 in 15,000–20,000 live births annually. It arises from biallelic mutations in the RB1 tumor suppressor gene (chromosome 13q14.2), leading to uncontrolled cell cycle progression. Clinically, it presents as unilateral (60%) or bilateral (40%) disease, with leukocoria and strabismus as hallmark signs. Untreated, retinoblastoma is fatal due to metastatic spread. The disease follows Knudson’s two-hit model: heritable forms (30–40% of cases) involve a germline RB1 mutation (M1) and a somatic second hit (M2), predisposing to bilateral/multifocal tumors and secondary cancers. Non-heritable cases (60–70%) result from somatic RB1 mutations or, rarely, MYCN amplification (2%). Genetic testing is critical to classify risk (H0, H1, and HX categories), guide surveillance, and inform family counseling. Bilateral cases almost always harbor germline mutations, while 15% of unilateral cases may carry germline/mosaic RB1 defects. Advanced techniques (Sanger/NGS sequencing for mutation detection, NGS for copy number alterations, and methylation assays) detect RB1 mutations, CNVs, and epigenetic silencing. Tumor DNA analysis resolves ambiguous cases. H1 patients require intensive ocular and brain MRI surveillance, while H0 cases need no follow-up. Prenatal/preimplantation genetic diagnosis (PGD) can prevent transmission in high-risk families. Emerging research explores additional genes (BCOR, CREBBP) and MYCN-amplified subtypes. Genetic counseling addresses recurrence risks, reproductive options, and long-term cancer monitoring. Integrating genetic insights into clinical practice enhances precision medicine, reducing morbidity and healthcare costs. Future directions include whole-genome sequencing and functional studies to refine therapeutic strategies. Full article

Purpose: To evaluate color discrimination in schoolchildren with low birth weight (LBW) and those born full-term and at a weight appropriate for gestational age (AGA). Methods: LBW children aged 5–11 years and school-, grade-, sex-, and age-matched full-term (birth weight ≥ 2500 g) AGA controls from 14 randomly selected schools from a low-income region were tested. Examinations included visual acuity, ocular motility, and color vision testing using the Farnsworth D-15 test. Color score and interocular color score difference (ICD) were compared between the groups. Multiple logistic regression was used to analyze associations between color vision deficit and group, adjusting for age, sex, visual acuity, strabismus, and amblyopia. Results: A total of 291 LBW children (age = 8.5 ± 1.3 yrs; 55.7% females) and 265 AGA children (age = 8.5 ± 1.4 yrs; 56.2% females) were examined. Dyschromatopsia was detected in 10.3% of LBW and 7.9% of AGA children, primarily involving tritan and non-specific defects. Color scores were comparable between the groups, and color deficit was significantly associated with younger age and worse visual acuity. The ICD was statistically larger (p = 0.004) in the LBW group, in which the frequencies of strabismus and amblyopia were also higher. Conclusions: Most LBW children demonstrated normal color discrimination, but their interocular color score difference was larger than that of AGA children. Full article

Introduction: Intermittent exotropia (IXT) is the most common form of childhood divergent strabismus. Surgery remains the primary approach to control ocular deviation and preserve binocular function. Although previous studies report a success rate of approximately 75%, factors influencing surgical outcomes remain insufficiently explored. This study evaluates the effectiveness of strabismus surgery in children with IXT and identifies predictors of postoperative alignment stability. Methods: This retrospective study included 258 children with basic-type IXT or divergence excess who underwent bilateral lateral rectus recession. Clinical records and surgical data were analyzed to determine the overall success rate and identify associated predictive factors. Results: The sample included 166 females (64.3%) and 92 males (35.7%), with a mean age of 11.19 ± 3.73 years. Surgical success was achieved in 238 patients (92.2%). Success rates were similar across sexes (92.8% in females vs. 91.3% in males). No significant associations were found between surgical success and sex, age, preoperative occlusion therapy, binocular function, or IXT subtype. However, patients with moderate preoperative deviations had higher success rates. A statistically significant difference was observed in the preoperative deviation angle between successful (31 ± 7.08∆) and unsuccessful (42 ± 7.27∆) cases. A lower AC/A ratio was also associated with better outcomes, although it was not the main predictor. Discussion: The high success rate (92.2%) suggests a limited impact of demographic or preoperative variables. The preoperative deviation angle emerged as the strongest predictor of success, with smaller angles correlating with more favorable surgical outcomes. These findings underscore the importance of accurate preoperative assessment in surgical planning for IXT. Full article

Introduction: Acute Myeloid Leukemia (AML) is a hematologic malignancy characterized by the clonal expansion of myeloid progenitors. While it primarily affects the bone marrow, extramedullary relapse occurs in 3–5% of cases, and it is linked to poor prognosis. Central nervous system (CNS) involvement presents diagnostic challenges due to nonspecific symptoms. CNS manifestations include leptomeningeal dissemination, nerve infiltration, parenchymal lesions, and myeloid sarcoma, occurring at any disease stage and frequently asymptomatic. Methods: A 62-year-old man with a recent history of AML in remission presented with diplopia and aching paresthesias in the left periorbital region spreading to the left frontal area. The diagnostic workup included neurological and hematological evaluation, lumbar puncture, brain CT, brain magnetic resonance imaging (MRI) with contrast, and dermatological evaluation with skin biopsy due to the appearance of nodular skin lesions on the abdomen and thorax. Results: Neurological evaluation showed hypoesthesia in the left mandibular region, consistent with left trigeminal nerve involvement, extending to the periorbital and frontal areas, and impaired adduction of the left eye with divergent strabismus in the primary position due to left oculomotor nerve palsy. Brain MRI showed an equivocal thickening of the left oculomotor nerve without enhancement. Cerebrospinal fluid (CSF) analysis initially showed elevated protein (47 mg/dL) with negative cytology; a repeat lumbar puncture one week later detected leukemic cells. Skin biopsy revealed cutaneous AML localization. A diagnosis of AML relapse with CNS and cutaneous localization was made. Salvage therapy with FLAG-IDA-VEN (fludarabine, cytarabine, idarubicin, venetoclax) and intrathecal methotrexate, cytarabine, and dexamethasone was started. Subsequent lumbar punctures were negative for leukemic cells. Due to high-risk status and extramedullary disease, the patient underwent allogeneic hematopoietic stem cell transplantation. Post-transplant aplasia was complicated by septic shock; the patient succumbed to an invasive fungal infection. Conclusions: This case illustrates the diagnostic complexity and poor prognosis of extramedullary AML relapse involving the CNS. Early recognition of neurological signs, including cranial nerve dysfunction, is crucial for timely diagnosis and management. Although initial investigations were negative, further analyses—including repeated CSF examinations and skin biopsy—led to the identification of leukemic involvement. Although neuroleukemiosis cannot be confirmed without nerve biopsy, the combination of clinical presentation, neuroimaging, and CSF data strongly supports the diagnosis of extramedullary relapse of AML. Multidisciplinary evaluation remains essential for detecting extramedullary relapse. Despite treatment achieving CSF clearance, the prognosis remains unfavorable, underscoring the need for vigilant clinical suspicion in hematologic patients presenting with neurological symptoms. Full article

Purpose: This retrospective study aimed to compare the efficacy of cycloplegic (CR) versus non-cycloplegic refraction (NCR) methods in detecting refractive errors among children and adolescents. Methods: Electronic data from pediatric ophthalmology clinics at the University Hospital “Sveti Duh”; Zagreb, Croatia, from January 2008 to July 2023, were analyzed. Comprehensive eye examinations, including Logarithmic Visual Acuity tests, subjective refraction, cycloplegic retinoscopy, slit lamp, and fundus examinations, were conducted. Results: The dataset included 1075 individuals, with 180 undergoing NCR and 895 undergoing CR. In premyopes, the NCR group had a longer follow-up (5.04 vs. 3.45 years; p < 0.001) with similar SE progression. In low myopia, NCR showed more negative first visit SE (−1.86 D vs. −1.35 D; p < 0.001) and faster progression (p = 0.01). In high myopia, follow-up was longer in NCR (5.08 vs. 2.08 years; p = 0.03) with no other significant differences. SE progression was highest in 4–6-year-olds and significantly faster in NCR (−0.61 vs. −0.40 D/year; p = 0.05). Conclusions: Cycloplegic refraction is essential for accurately assessing refractive status, especially in cases of low myopia, as it prevents misclassification and ensures precise evaluation in children and adolescents, thereby facilitating the appropriate diagnosis and treatment of refractive errors. Full article

Background/Objectives: A direct link between sensory processing disorder (SPD) and strabismus has not been systematically investigated, though prior studies suggest sensory modulation may influence visual behaviors. Traditional approaches view strabismus through a binary lens—either normal or pathological motor deviation. This report presents a proof-of-concept case suggesting strabismus may represent a neurobehavioral manifestation of sensory processing imbalance, rooted within the broader framework of SPD. Methods: We report a pediatric case marked by episodic monocular eye closure triggered by environmental stimuli, without identifiable ophthalmologic or neurologic pathology. The child’s symptoms were most consistent with sensory over-responsivity (SOR), a subtype of SPD, manifesting as stimulus-bound monocular eye closure and secondary self-regulatory behaviors. Results: We propose the Fusion Dysregulation Hypothesis, suggesting that exotropia and esotropia represent opposing outcomes along a continuum of sensory connectivity: exotropia arising from neural underwiring (hyporesponsivity and fusion instability), and esotropia from overwiring (hyperresponsivity and excessive fusion drive). Our case, marked by sensory hyperresponsivity, showed frequent monocular eye closure that briefly disrupted but did not impair fusion. This suggests an “overwired” binocular system maintaining single vision despite sensory triggers. In early-onset esotropia, such overconnectivity may become maladaptive, leading to sustained convergence. Conversely, autism spectrum disorder, typically associated with hypoconnectivity, may predispose to exotropia through reduced fusion maintenance. Conclusions: These findings highlight the need for interdisciplinary evaluation. We advocate for structured sensory profiling in children presenting with strabismus and, conversely, for ophthalmologic assessment in those diagnosed with SPD. While our findings remain preliminary, they support a bidirectional screening approach and suggest that sensory modulation may play a previously under-recognized role in the spectrum of pediatric strabismus presentations. Full article

Background/Objectives: Inherited retinal diseases (IRDs) are a heterogeneous group of rare eye disorders characterized by progressive photoreceptor degeneration, leading to severe visual impairment or even blindness. This study aims to investigate the prevalence, types, and clinical significance of ophthalmic comorbidities in Portuguese patients with IRDs. Methods: This nationwide Portuguese population-based retrospective study was based on the IRD-PT registry (retina.com.pt). Statistical analysis was conducted using Microsoft^® Excel^® for Microsoft 365 and IBM SPSS Statistics version 29.0.2.0. Informed consent was obtained from all participants. Results: A total of 1531 patients (1254 families) from six centers were enrolled. The cohort consisted of 51% males, with a mean age of 45.8 ± 19.3 years and a mean age at diagnosis of 39.4 ± 19.5 years. Overall, ocular comorbidities were reported in 644 patients (42.1%). In 176 individuals (11.5%), multiple concurrent comorbidities were found. Cataract was the most common comorbidity (21.3%), followed by amblyopia (6.3%) and high myopia (5.9%). Statistically significant associations with ocular comorbidities were observed in isolated progressive IRDs. Specifically, AR RP was associated with cataract (p < 0.001), and gene analysis revealed several significant associations. CRB1 was statistically linked to epiretinal membrane (ERM) (p = 0.003), EYS with cataract (p = 0.001), PROM1 with choroidal neovascularization (CNV) (p = 0.0026), and USH2A with macular hole (p = 0.01). Patients with the RPE65 mutation in Leber congenital amaurosis were associated with ERM (p = 0.019). There was also a significant association between X-linked RP and high myopia (p < 0.001) and CNV in Best disease (p < 0.001); in syndromic IRDs, cataract, cystoid macular edema, and ERM were observed in Usher syndrome, p = 0.002, p = 0.002, and p = 0.005, respectively, and the MYO7A gene was linked to cataract (p = 0.041) and strabismus (p = 0.013); pseudoxanthoma elasticum was significantly associated with CNV (p = 0.002); and foveal hypoplasia was associated with anterior segment dysgenesis (p < 0.001). Conclusions: This study enhances the current understanding of ocular comorbidities in IRDs in Portuguese patients. Common findings were cataract, refractive error, and CME. Stationary IRDs and pattern dystrophies showed fewer concomitant comorbidities, supporting their classification as non-progressive or benign conditions. The significance of registries like IRD-PT cannot be overstated, particularly in the context of rare diseases. These databases serve multiple crucial functions in enabling detailed documentation of disease characteristics and long-term monitoring of disease progression. Full article

Background/Objectives: Joubert syndrome (JS, MIM 213300) is a rare genetic condition characterized by respiratory control disturbances, abnormal eye movements, ataxia, cognitive impairment, and the notable agenesis of the cerebellar vermis. The molar tooth sign visible in magnetic resonance imaging of the brain serves as a diagnostic tool for JS. Variants in the TCTN3 gene can lead to the development of several diseases, including JS type 18, Orofaciodigital syndrome IV, and Meckel–Gruber syndrome. Methods: We performed whole-exome sequencing (WES) in a 49-year-old woman with JS characterized by severe intellectual disability, ataxic gait, agenesis of the cerebellar vermis leading to the molar tooth sign, dystonic movements, strabismus, and nystagmus. Moreover, the patient also showed a thickened corpus callosum. Results: Molecular analysis through WES revealed the heterozygous variants c.182dup (p.G62Wfs*18) and c.1452+4del in the TCTN3 gene, expanding our understanding of the genetic diversity and potential phenotypic implications associated with TCTN3 variations. Conclusions: To our knowledge, this is the first patient with JS and a thickened corpus callosum. Moreover, a thickened corpus callosum has never been identified in patients with pathogenic variants of the TCTN3 gene. Full article

Amblyopia, a neurodevelopmental disorder, is commonly assessed through amblyopic eye visual acuity (VA) deficits, but recent studies also highlight abnormalities in the fellow eye. This study quantified binocular and fellow/dominant eye VA in individuals with amblyopia and strabismus without amblyopia and examined factors influencing these measures, including fixation eye movement (FEM) abnormalities. Identifying which subsets of patients—such as those with nystagmus, concurrent strabismus, or greater fixation instability—exhibit more pronounced deficits in binocular visual acuity and binocular summation can enhance clinical decision-making by enabling tailored interventions and aiding patient counseling. Sixty-eight amblyopic, seventeen strabismic without amblyopia, and twenty-four control subjects were assessed using an adaptive psychophysical staircase procedure and high-resolution video-oculography to evaluate FEMs and fixation instability (FI). Binocular and fellow eye VA were significantly lower in amblyopia, regardless of type or nystagmus presence, whereas binocular and dominant eye VA in strabismus without amblyopia did not differ from the controls. Despite reduced binocular acuity, amblyopic and strabismic subjects exhibited binocular summation, with binocular VA exceeding fellow/dominant eye VA. Reduced binocular VA correlated with greater fellow eye VA deficits, diminished binocular summation, and increased FI in the amblyopic eye. Fellow eye VA deficits were linked to greater amblyopic eye VA deficits, an increased degree of anisometropia, higher FI, and stronger nystagmus correlation. These findings suggest amblyopia affects both visual sensory and motor systems, impacting binocular function and fixation stability, with potential consequences for everyday visuomotor tasks like reading. Full article

Understanding the tensile properties of extraocular muscles (EOMs) is crucial for successful strabismus surgery and accurate predictions of surgical outcomes. Assessments of EOM tensile strength are traditionally highly dependent on the expertise of the ophthalmic surgeon, since they involve manually pulling the EOM in opposite directions. This approach only provides subjective measurements that are not quantifiable. Previous quantitative approaches have utilized various devices such as implanted force transducers or dial tension gauges connected to muscle tendons with nylon sutures, but these methods are complex and so are rarely used outside of research settings. Consequently, the goal of this study was to create a quantitative and clinically applicable device for assessing EOM tensile strength. This developed device uses a strabismus hook connected to a strain gauge load cell that measures the tensile force and includes a tilting sensor to ensure that the hook is pulled at a consistent angle when a force is applied. The performance of the device was tested on 22 EOMs in 11 patients with intermittent exotropia during surgery for resecting the medial rectus (MR) and recessing the lateral rectus (LR) under general anesthesia. The measured tensile strengths of the MR and LR were 284.9 ± 58.3 and 278.3 ± 64.6 g (mean ± SD), respectively. In conclusion, the novel device developed in this study for quantitative measurements of EOM tensile strength in clinical settings will facilitate understanding of the pathophysiology of strabismus, as well as of the mechanical properties of the EOMs, and enhance the precision of surgical interventions. Full article

The impact of prematurity has been reported to affect ocular development during infancy and childhood. Research into long-term ocular outcomes in adults born preterm is highly relevant due to a possible impact on the development of age-related ocular diseases such as macular degeneration. The aim was to review the currently available literature regarding outcomes of prematurity on ocular morphology in adults to provide a summary of the long-term effects of prematurity and associated factors such as low birth weight (BW) and retinopathy of prematurity (ROP) and its treatment. Adults formerly born preterm have a higher prevalence of refractive error, lower visual acuity, a higher prevalence of strabismus, shorter axial length, a steeper corneal radius, increased macular thickness, and a thinner peripapillary retinal nerve fiber layer thickness (RNFL), as well as changes in vessel anatomy and the foveal avascular zone. Adults who suffered from ROP have a high risk of myopic refractive error, amblyopia, shallower anterior chambers and thicker crystalline lenses, higher corneal aberrations, thinner RNFL thickness, and foveal hypoplasia. Individuals with advanced ROP requiring treatment also have higher rates of astigmatism, an increased temporal RNFL thickness, altered macular curvature, and reduced visual acuity. Prematurity leads to lifelong ocular morphological and functional changes, suggesting that fetal origins may contribute to age-related ocular diseases. This could have implications for ophthalmologic monitoring and the frequency of check-ups in adulthood. Full article

Background/Objectives: To investigate the effect of strabismus surgery on ocular surface parameters, meibomian glands, and conjunctival impression cytology. Methods: Preoperative and postoperative (10th day, first month, and third month) tear break-up time (TBUT) tests, Schirmer 1 tests, corneal staining scores (CSS), meibomian gland (MG) loss rates, ocular surface disease index (OSDI) scores, and conjunctival impression cytology (IC) results of 30 patients who underwent strabismus surgery were compared. Results: Significant differences were found between preoperative TBUT test results and those evaluated on the postoperative 10th day and at the postoperative first month (p < 0.0001 for both). There were also significant differences between the preoperative and postoperative first- and third-month Schirmer 1 test results (p = 0.02 and p < 0.0001, respectively). Furthermore, mean OSDI scores significantly differed between preoperative and postoperative 10th-day measurements (p < 0.0001). The mean postoperative 10th-day CSS was found to be significantly higher than the preoperative mean CSS (p < 0.0001). The stages in preoperative conjunctival IC samples were found to be significantly lower than those evaluated at all postoperative times (p < 0.0001 for all). Significant differences were observed between the preoperative lower eyelid MG loss rate and all postoperative MG loss rates (p < 0.0001 for the 10th day and first month and p < 0.001 for the third month). Lastly, the preoperative upper eyelid MG loss rate significantly differed from all postoperative MG loss rates (p < 0.0001 for the 10th day, p < 0.003 for the first month, and p < 0.0001 for the third month). Conclusions: We observed changes indicative of dry eye in the mean OSDI score, TBUT, Schirmer 1 test, MG loss rates, and conjunctival IC findings up to the postoperative third month in patients who underwent strabismus surgery. Therefore, we believe that patients undergoing strabismus surgery should be followed up for ocular surface diseases, particularly dry eye. Full article

Background and Objective: This study aims to investigate the clinical significance and risk factors of retinal hemorrhages (RH) and white-centered retinal hemorrhages (Roth spots, RS) in neonates with hypoxic-ischemic encephalopathy (HIE), as well as their long-term ophthalmologic outcomes. Materials and Methods: Neonates diagnosed with HIE were classified into three stages according to the Sarnat classification. A comprehensive ophthalmologic assessment was performed within the first three days of life and at two years of age. Retinal hemorrhages were staged based on the Egge classification, and the presence of RS was also documented. The clinical characteristics and risk factors associated with RH and RS were systematically recorded. Results: Retinal hemorrhages were identified in 178 eyes (42.3%), and RS were observed in 180 eyes (42.8%). The prevalence of both RH and RS was significantly higher in neonates with Stage 2 and Stage 3 HIE (p < 0.001). The resolution time for both RH and RS was significantly prolonged in neonates with Stage 3 HIE compared to those with lower grades (p < 0.001). Furthermore, the frequency of grade 3 RH increased with advancing HIE stages (p < 0.001). Logistic regression analysis revealed that Stage 2 HIE (OR: 5.41, 95% CI: 1.19–24.54, p = 0.03) and Stage 3 HIE (OR: 27.17, 95% CI: 5.38–137.25, p < 0.001) were significantly associated with RS. Similarly, Stage 2 HIE (OR: 4.54, 95% CI: 1.00–20.68, p = 0.05) and Stage 3 HIE (OR: 40.88, 95% CI: 7.75–215.68, p < 0.001) were significantly associated with RH. At the age of two, strabismus was identified in 34 (18.4%) patients, while refractive errors were detected in 68 (37.4%) patients. Conclusions: The prevalence of RH and RS increases in correlation with the severity of HIE. While these hemorrhages generally resolve spontaneously, the risk of refractive errors and strabismus remains elevated. Full article

Background and Objectives: Poretti–Boltshauser syndrome (PBS) is a rare, autosomal recessive disorder caused by pathogenic variants in the LAMA1 gene, resulting in laminin dysfunction. This manifests as a cerebellar malformation with cysts, and patients present with developmental delay and ataxia; however, ocular features are not well-characterised. We aimed to summarise the ocular phenotypes of PBS based on cases reported in the literature. Materials and Methods: A literature search was conducted on Medline, Embase, and PubMed on PBS and its ocular associations. Genetically confirmed PBS cases were reviewed, and genotype–phenotype correlations were investigated. Results: Comprehensive reporting of genotypes and associated systemic and ocular phenotypes was available in 51 patients with PBS, who had 52 distinct variants in LAMA1. Most patients carried homozygous variants. The most common genotype was a c.2935delA homozygous mutation, followed by the c.768+1G>A; c.6701delC compound heterozygous mutation. High myopia was the most common ocular phenotype (n = 39), followed by strabismus (n = 27) and ocular motor apraxia (n = 26). A wide range of other ocular manifestations, including retinal dystrophy, retinal neovascularisation, retinal detachment, strabismus, nystagmus, optic disc and iris hypoplasia, were reported. Patients with the same genotype exhibited variable expressivity. Conclusions: PBS has a broad ocular phenotypic spectrum, and characterisation of this variability is important for making an accurate diagnosis and informing genetic counselling. Full article

Objectives: Although considered a safe procedure, functional endoscopic sinus surgery (FESS) can cause various significant ophthalmic complications, i.e., serious extraocular muscle (EOM) damage. The aim of this study is to review the surgical management outcomes of patients with mechanical strabismus and diplopia as a complication of FESS, who referred to ophthalmological department in Norbert Barlicki University Teaching Hospital No. 1 over the 5-year period from 2018 to 2023. Methods: The records of seven consecutive patients with diplopia following endoscopic sinus surgery were retrospectively reviewed. Demographics, ophthalmological and orthoptic examination, the results of orbital imaging, type of FESS, type of strabismic surgery, and the timing of the first intervention were analysed. Results: The time from FESS to referral for strabismic intervention varied from one day to two months. Two patients, who were operated upon immediately after the FESS procedure, underwent direct reunion of the proximal and distal parts of the ruptured medial rectus muscle. One patient required maxillofacial intervention in order to improve prominent enophthalmos. The remaining five demonstrated severe adhesion formation around at least one of the EOMs and orbital walls. Only patients who were operated upon within a short period after complicated FESS achieved orthotropia and lack of diplopia in the primary position with a single surgery. Conclusions: Early recognition of the orbital complications subsequent to FESS and prompt referral are essential for achieving a satisfactory surgical result. Appropriate treatment should be based on the mechanism, location, type, and severity of muscle damage. Full article