A Comparison of Lower Eyelid Retraction in Normal Individuals with Positive versus Negative Orbital Vector.

PURPOSE: The present study aimed to compare lower eyelid retraction (LER) in individuals with a positive orbital vector with that of individuals with a negative orbital vector. MATERIALS AND METHODS: This cross-sectional study was conducted on 123 normal individuals including 64 men and 59 women aged 20-80 years. After the individuals underwent Hertel exophthalmometry, two side-view and front-view photos were taken using a camera. The orbital vector angle and the extent of scleral show were then measured in millimeter, using the Photoshop software. Eventually, the recorded data were analyzed through statistical software. RESULTS: The findings of this study showed that LER has a significant correlation with orbital vector angle and the extent of proptosis (P < 0.05). The mean value of orbital vector angle in individuals without LER was 9.76°, while this figure was calculated to be - 13.65° in individuals with LER. The mean protrusion value based on Hertel exophthalmometry was 14.08 mm in individuals without LER and 16.27 mm in individuals with LER. The extent of scleral show had a significant correlation with proptosis and orbital vector angle (P = 0.01), with a mean value of - 0.41 mm in individuals without LER and 0.94 mm in participants with LER. CONCLUSIONS: The prevalence of LER and scleral show is positively correlated with the extent of proptosis and negatively correlated with orbital vector angle.

The Role of Inferior Turbinate Fracture in the Management of Congenital Nasolacrimal Duct Obstruction.

PURPOSE: To evaluate the effect of inferior turbinate fracture in the treatment of congenital nasolacrimal obstruction combined with first attempt probing in children younger than 36 months. METHODS: This prospective case-control study was conducted on 230 eyes from 176 children aged 12 to 36 months with congenital nasolacrimal duct obstruction. All patients underwent simple probing under general anesthesia. Inferior turbinate fracture was performed in case group combined with first probing. Patients were followed up 1, 3, and 6 months after surgery. RESULTS: Total success rate was 91.2% for patients with turbinate fracture and 86.4% for patients without turbinate fracture. The difference between success rates was not statistically significant (p = 0.269). The authors did not find significant difference between cases and controls in age subgroups. Success rate in combined case and control groups in patients younger than 24 months (success rate: 91.7%) was significantly higher than those older than 24 months (success rate: 71.9%; p = 0.001). In univariate logistic regression analysis, age ≥24 months showed a negative association with the success rate (odds ratio = 0.232; 95% confidence interval: 0.91-0.59; p = 0.002). Other factors like sex, bilaterality of nasolacrimal duct obstruction, method of probing were not significantly associated with response to treatment. CONCLUSIONS: Inferior turbinate fracture does not improve the outcomes of simple probing and is not recommended during the first attempt in treatment of congenital nasolacrimal duct obstruction. Late probing (after 24 months of age) may have a higher failure rate, and increased age is the important factor that predicts failure in probing simple congenital nasolacrimal duct obstruction.

First report of Klein-Waardenburg Syndrome in Iran and a novel pathogenic splice site variant in PAX3 gene.

OBJECTIVES: Waardenburg Syndrome (WS) as a congenital auditory-pigmentary syndrome is a clinically and genetically heterogeneous disorder. Based upon clinical manifestations, it can be classified into four types. Loss of function mutations in PAX3 gene cause WS1 and WS3 (Klein-Waardenburg syndrome). While WS2 and WS4 have locus heterogeneity with multiple causative genes. Here we report a novel splice site variant in a pedigree with multiple affected members. Based on diagnostic criteria, three of them are associated with WS3. The remained patients classified as type 1. METHODS: PCR amplification and Sanger sequencing were performed for all exons and all exon-intron boundaries of PAX3 (NM_181,459) gene of the proband. Then available symptomatic and asymptomatic members were screened for the detected variant. Interpretation and classification of the variant were done based on the current guidelines. RESULTS: We identified a novel heterozygous splice site variant (c.586+2T > C) in donor site of intron 4 of PAX3 gene in our proband. Moreover, this variant was co-segregated with the disease in other available five affected members. Also, the detected variant was not detected in any of the investigated asymptomatic members. This variant was classified as a pathogenic variant. CONCLUSIONS: This study shows significant intra-familial clinical heterogeneity and absence of phenotype-genotype correlation in a pedigree with Waardenburg Syndrome. However, severity of phenotypes and additional symptoms in the patients can be related to alternative splicing and different levels of PAX3 gene expression. Detailed evaluation of more cases can shed light on this and case-reports are valuable traffic sign in the road. This article is the first report of Waardenburg syndrome type 3 in Iran.

Orbital alveolar echinococcosis: A case report.

PURPOSE: To report a rare case of orbital alveolar echinococcosis in Iran. METHODS: A 23-year-old woman with multi-lobular mass lesion in the right orbit underwent excisional biopsy via a deep lateral orbitotomy approach. The pathologic investigation of the lesion was a multilobulated cystic lesion shown where the cyst wall structure was compatible with alveolar Hydatid cyst in histopathology. Clinical course, surgical, and medical management of the disease is noted briefly in the case of orbital involvement of the alveolar echinococcosis. RESULTS: Patient was treated with anti-fungal medication, and the cysts were successfully removed by a surgical excision. CONCLUSION: Although orbital alveolar echinococcosis is extremely rare, it is noteworthy to study its clinical manifestations and radiological examinations to be able to make a true diagnosis.

"The influence of orbital vector on involutional entropion and ectropion".

PURPOSE: This study aimed to evaluate the effect of orbital vector and other biometric parameters (i.e. axial globe length, axial globe projection) on the development of involutional entropion or ectropion. METHODS: In this cross-sectional study, 167 eyes from 132 patients were included. Of these eyes, 128 had involutional entropion and 39 had involutional ectropion, all of lower lids. The axial globe projection was measured using Hertel exophthalmometry; axial globe length was assessed by A-mode ultrasound; and orbital vector was determined clinically. Patient-specific categorical variables and continuous variables were compared using the chi-square test and the two-sided t test, respectively. Correlations were derived using the Pearson correlation. RESULTS: The percentage of females was 59% and 33.3% in the entropion group and in the ectropion group, respectively. A significant association was found between the gender and type of eyelid malposition (p = 0.015). Exophthalmometry reading was greater in the ectropion group than in the entropion group (17.7 ± 2.5 versus 10.8 ± 3.7 mm, respectively; p < 0.001). There was no significant correlation between axial globe length and exophthalmometry reading. Positive orbital vectors were observed in 87.5% of eyelids with involutional entropion. Negative orbital vectors were observed in 92.3% of eyelids with involutional ectropion (p < 0.001). Patients with negative orbital vectors showed greater axial globe projection than patients with positive orbital vectors (18.0 ± 2.1 versus 10.6 ± 3.5 mm, respectively; p < 0.001). CONCLUSIONS: There is an association between orbital vector measurement and involutional entropion and ectropion. Measuring the orbital vector may help predict the development of these lid malpositions.

Orbital metastatic osteosarcoma.

At an estimated incidence of 2 cases per million persons per year, osteosarcoma is the most common primary malignant bone tumor in children and adults, excluding hematopoietic intraosseous tumors. Orbital metastases of osteosarcoma are very rare. Only 5 cases of orbital metastasis of osteosarcoma previously reported in the literature. We report the case of a 19-year-old man with known history of osteosarcoma of right distal femur who presented with acute visual loss and progressive protrusion of his left eye. Orbital CT scan and MRI revealed orbital mass eroding orbital walls and intracranial invasion. He underwent superotemporal orbitotomy for debulking of orbital mass. Histopathological examination (HPE) of the specimen was reported as metastatic osteosarcoma with extensive tumor necrosis. Then he underwent adjuvant chemotherapy and palliative radiotherapy. Although orbital metastasis of osteosarcoma is a rare event, it seems it has had an increasing trend recently. so, making efforts to palliate the patient's symptoms by multidisciplinary teamwork and proper interaction among ophthalmologist, orthopedic surgeons and oncologists is necessary.

Orbital hydatid cyst with diverse locality in the orbit and review of literatures.

PURPOSE: to introduce five different type of orbital involvement by hydatid cyst in 8 consecutive patients. DESIGN: descriptive case series. METHODS: Herein 8 patients with slowly progressive proptosis from 2 to 4months earlier at their first presentation are introduced. Complete ophthalmic examinations were done. Complete blood count, serologic test, ESR (erythrocyte sedimentation rate), CT scan and MRI were requested. Surgical removal of the lesions performed in all patients. RESULT: The hydatid cysts found in the extraconal (2 patients) and intraconal space (3 patients), lacrimal gland (1 patient), medial rectus (1 patient) and intraosseous of orbital wall (1 patient). The diagnosis of the isolated orbital hydatid cyst without any lesion in other parts of the body was confirmed in all patients. The recurrence was not observed in any patients during 2 - 6 years follow up. CONCLUSION: Although the most common site of involvement of orbital hydatid cyst is intraconal, it can invade various locations within the orbit.

Orbital metastasis: a rare manifestation of scapular bone osteosarcoma.

PURPOSE: To report a case of orbital metastasis from scapular bone osteosarcoma. CASE REPORT: A 55-year-old man who was a known case of scapular bone osteosarcoma, was referred to our clinic with ocular symptoms including acute painful decreased vision, proptosis, conjunctival injection, and chemosis. He had undergone surgical excision of the original tumor and received systemic chemotherapy 4 months before. Imaging studies and incisional biopsy were performed for the orbital lesion, the histopathological examination confirmed the diagnosis of metastatic osteosarcoma. The patient was referred to the oncologist for palliative chemotherapy and further intervention; however, he deceased 2 months later due to sepsis in the context of immunosuppression. CONCLUSION: Metastatic involvement of the orbit due to osteosarcoma is a rare condition manifesting with orbital mass, pain, diplopia and ocular motility disturbance. Although there is no effective treatment, the combination of modalities such as chemotherapy, radiotherapy, and surgery may delay progression of the disease.