Ophthalmic manifestations of nasopharyngeal carcinoma (NPC): A systematic review of reported cases with and without prior history of nasopharyngeal carcinoma.

PURPOSE: We aimed to study reported cases of nasopharyngeal carcinoma presenting with ophthalmic manifestations with and without a prior diagnosis of nasopharyngeal carcinoma. METHODS: We conducted a systematic review following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). A literature search was conducted using the MEDLINE database in PubMed and Google Scholar. We included patients with a previous diagnosis of nasopharyngeal carcinoma in Group I and those without a prior diagnosis of nasopharyngeal carcinoma in Group II. Data included demographics, clinical presentation, history of nasopharyngeal carcinoma, treatment, histopathological description, World Health Organization classification, and outcome. RESULTS: Fifty-eight patients (26 in Group I and 32 in Group II) were included. The male-to-female ratio was 3:1. The mean age of the patients (53.3 ± 11.7 years and 54.8 ± 16.2 years, respectively) and gender did not differ significantly between the two groups. The most common ocular presentations were diplopia and proptosis in the first group (each in 34.6%), whereas visual disturbance was most common in the second group (46.9%). Treatment options and World Health Organization grading were comparable. The outcome in 38 patients (after a comparable follow-up period) was significantly better in group II (p=0.003). There was no statistically significant difference in the outcome of 23 patients in correlation with World Health Organization grades II versus III irrespective of group (p=0.094). CONCLUSIONS: The demographics of patients with nasopharyngeal carcinoma presenting with ophthalmic manifestations were similar between the two study groups, with a wide age range and male predominance. Patients presenting initially to ophthalmologists with no history of nasopharyngeal carcinoma have a more favorable outcome. World Health Organization grading may have less value as a prognostic indicator.

Primary Orbital Respiratory Epithelial Cyst: A Systematic Review and Two Case Reports.

A primary orbital respiratory cyst is a congenital choristoma that presents in the orbit and with different signs and symptoms depending on the location, which might also change the surgical approach. The aim of this report is to describe 2 new cases of primary respiratory epithelial cysts and to review the literature on presentation, management, and risk factors with different surgical approaches and complications. Two cases presenting with gradually increased proptosis had a confirmed diagnosis of a respiratory epithelial cyst. CT and MRI imaging revealed a thin-walled intraconal cystic lesion. Complete surgical removal was not possible and an incisional biopsy of the wall was performed. Rarely, orbital respiratory epithelium cysts are primary lesions. The high risk of breaking the capsule during surgery and the presence of residual epithelial cells within the orbit may cause cyst's recurrence. Indeed, we recommend careful attention during dissection maneuvers and a long-term follow-up.

Clinicopathological study of ophthalmic cutaneous and mucocutaneous non-langerhans cell histiocytic lesions.

BACKGROUND: The "C group" of the histiocytic disorders is characterized by non-Langerhans-cell histiocytic lesions in the skin, mucosal surfaces, or both, out of which Juvenile xanthogranuloma (JXG) is the most common typically affecting the skin. The eye is the most common extra-cutaneous site of JXG., we aim at providing our clinical and histopathological experience with this group of diseases including the adult-onset xanthogranuloma (AXG). METHODS: This is a retrospective cohort study of all patients with the tissue diagnosis of ocular and periocular cutaneous and mucocutaneous non-LCH disorders who presented to us over a period of 25 years (January 1993 to December 2018). RESULTS: Twenty patients were diagnosed as "Group C" disease with an age range of 2 months-60.9 years. Eleven patients were females (55%) and nine were males (45%). The involvement was mostly unilateral in 80.9%. All cases fell into the xanthogranuloma family with 11 JXG patients, 8 AXG patients of skin and ocular surface, and one patient with solitary reticulohistiocytoma (SRH). The clinical site of involvement in JXG was primarily in the eyelid in 5 patients (45%), ocular surface lesions in 2 (18%), iris in 2 (18%), choroidal and bilateral orbital lesions in 1 patient each (9%). The group of AXG, presented equally with eyelid lesions in 4/8 and ocular surface lesions in 4/8. The non-Langerhans' histiocytic infiltrate showed supportive immunohistochemical staining properties (reactive to CD68 marker and negative to S-100 and langerin markers). CONCLUSION: Among the rare histiocytic disorders, xanthogranulomatosis is the commonest and has wide clinical manifestations. Accurate diagnosis needs to be supported by typical histopathological findings. JXG was the commonest in our study with relatively older mean age at presentation and frequent eyelid rather than iris involvement. AXG is often confused with xanthelasma when involving the eyelids with corneal limbal involvement is relatively frequent.

An advanced case of pediatric ciliary body medulloepithelioma with detailed literature review.

INTRODUCTION AND IMPORTANCE: Medulloepithelioma is the second most common primary intraocular malignant tumor in children but is often diagnosed late, which worsens the prognosis. CASE PRESENTATION: We are reporting a 6-year-old boy presenting with a ciliary body (CB) teratoid malignant medulloepithelioma (TMM), which was missed at the initial presentation. We added our case to the 97 previously reported cases in our literature review that were confirmed by cytological or histopathological examination. DISCUSSION: Medulloepithelioma has a wide age range at presentation with a mean of 5.3 ± 4.1 years, and slight male predominance (M: F ratio of 1.15). Clinically, the main symptoms/ signs are reduced visual acuity, lens changes, or a pupil "mass." Almost all reported medulloepitheliomas were unilateral (98 %). Histopathologically, non-teratoid malignant medulloepithelioma (NTMM) (35.7 %) and TMM (34.5 %) were the commonest. Enucleation was the main treatment modality because of the large tumor size of 72.7 %. A combination of chemotherapy and/or radiotherapy was used in 15.1 % and brachytherapy for small lesions in 14.1 %. Orbital exenteration was needed in 3 cases because of orbital invasion. CONCLUSION: A CB medulloepithelioma tumor can be easily missed, diagnosed late, with less chance for globe salvaging. The malignant types are more common and may result in orbital invasion, requiring even more extensive surgery. Therefore, when facing a child with lens changes, a pupil "mass," or raised intraocular pressure, pediatricians and general ophthalmologists must have an earlier suspicion and be aware of this rare entity to improve outcomes and reduce loss of vision or other disease-related morbidity.

Peri-ocular proliferative apocrine hidrocystoma (cystadenoma): A clinicopathological case series.

INTRODUCTION: Apocrine cystadenomas are rare, benign tumors that might arise in the periocular region from glands of Moll. They characteristically demonstrate proliferative features on histopathological examination, which differentiate them from simple hidrocystomas. PRESENTATION OF CASES: We retrospectively identified 4 consecutive cases of apocrine cystadenomas in male patients with a mean age of 48.5 years (range 20-62). One of the cases was a recurrent lesion. The Preoperative clinical diagnosis was mostly hidrocystoma. All patients agreed on complete surgical excision of their cystic lesions. Histopathological review of the excised cysts confirmed the diagnosis of apocrine cystadenoma based on the presence of proliferative features with no atypia or infiltrative behavior. Cases are summarized in Table 1 and the histopathological appearance is demonstrated in the included figure. DISCUSSION: Apocrine cystadenoma is rare. It occurs in the areas of skin with hair follicles, such as the axilla, neck, and trunk, and may be mistaken for other skin lesions, such as nevi or syringomas. In the eyelid region, they are commonly missed and frequently diagnosed as simple hidrocystoma due to the presence of bluish hue such as in our series. Recurrence is rare but was found in one of our patients at initial presentation. Our series included unique locations of this lesion in the medial canthus in one patient and near the eyelid tarsus in another. CONCLUSION: Ophthalmologist should be aware of the rare occurrence of this lesion in the periocular region. Further studies to explain the etiology of such proliferative nature in apocrine cysts would be interesting.

Ophthalmic manifestations of nasopharyngeal carcinoma (NPC): A systematic review of reported cases with and without prior history of nasopharyngeal carcinoma

ABSTRACT Purpose: We aimed to study reported cases of nasopharyngeal carcinoma presenting with ophthalmic manifestations with and without a prior diagnosis of nasopharyngeal carcinoma. Methods: We conducted a systematic review following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). A literature search was conducted using the MEDLINE database in PubMed and Google Scholar. We included patients with a previous diagnosis of nasopharyngeal carcinoma in Group I and those without a prior diagnosis of nasopharyngeal carcinoma in Group II. Data included demographics, clinical presentation, history of nasopharyngeal carcinoma, treatment, histopathological description, World Health Organization classification, and outcome. Results: Fifty-eight patients (26 in Group I and 32 in Group II) were included. The male-to-female ratio was 3:1. The mean age of the patients (53.3 ± 11.7 years and 54.8 ± 16.2 years, respectively) and gender did not differ significantly between the two groups. The most common ocular presentations were diplopia and proptosis in the first group (each in 34.6%), whereas visual disturbance was most common in the second group (46.9%). Treatment options and World Health Organization grading were comparable. The outcome in 38 patients (after a comparable follow-up period) was significantly better in group II (p=0.003). There was no statistically significant difference in the outcome of 23 patients in correlation with World Health Organization grades II versus III irrespective of group (p=0.094). Conclusions: The demographics of patients with nasopharyngeal carcinoma presenting with ophthalmic manifestations were similar between the two study groups, with a wide age range and male predominance. Patients presenting initially to ophthalmologists with no history of nasopharyngeal carcinoma have a more favorable outcome. World Health Organization grading may have less value as a prognostic indicator.

Isolated bilateral orbital and paranasal Rosai-Dorfman disease affecting two brothers: a case report and a systematic literature review.

A systematic literature review revealed 88 Rosai-Dorfman Disease (RDD) cases affecting the orbit. We present a review of the literature on orbital RDD in addition to two brothers with isolated bilateral extra-nodal orbital RDD cases associated with G-6PD deficiency. The disease manifested as asymmetric extensive orbital and paranasal sinus infiltration, with orbital bone destruction. Orbital mass debulking and steroids improved the condition in both patients. This is the most extensive case series of orbital RDD reported, including clinical manifestation, imaging, pathologic results, management, and outcome. Vigilant follow-up is essential to monitor for potential malignant transformation, systemic manifestations, potential vision loss, or life-threatening recurrences.

Inflammation and Fibrosis in Orbital Inflammatory Disease: A Histopathologic Analysis.

PURPOSE: The purpose of this study was to compare the histopathologic inflammation and fibrosis of orbital adipose tissue in orbital inflammatory disease (OID) specimens. METHODS: In this retrospective cohort study, inflammation, and fibrosis in orbital adipose tissue from patients with thyroid-associated orbitopathy (TAO), granulomatosis with polyangiitis (GPA), sarcoidosis, nonspecific orbital inflammation (NSOI), and healthy controls were scored by 2 masked ocular pathologists. Both categories were scored on a scale of 0 to 3 with scoring criteria based on the percentage of specimens containing inflammation or fibrosis, respectively. Tissue specimens were collected from oculoplastic surgeons at 8 international centers representing 4 countries. Seventy-four specimens were included: 25 with TAO, 6 with orbital GPA, 7 with orbital sarcoidosis, 24 with NSOI, and 12 healthy controls. RESULTS: The mean inflammation and fibrosis scores for healthy controls were 0.0 and 1.1, respectively. Orbital inflammatory disease groups' inflammation (I) and fibrosis (F) scores, formatted [I, F] with respective p -values when compared to controls, were: TAO [0.2, 1.4] ( p = 1, 1), GPA [1.9, 2.6] ( p = 0.003, 0.009), sarcoidosis [2.4, 1.9] ( p = 0.001, 0.023), and NSOI [1.3, 1.8] ( p ≤ 0.001, 0.018). Sarcoidosis had the highest mean inflammation score. The pairwise analysis demonstrated that sarcoidosis had a significantly higher mean inflammation score than NSOI ( p = 0.036) and TAO ( p < 0.0001), but no difference when compared to GPA. GPA had the highest mean fibrosis score, with pairwise analysis demonstrating a significantly higher mean fibrosis score than TAO ( p = 0.048). CONCLUSIONS: Mean inflammation and fibrosis scores in TAO orbital adipose tissue samples did not differ from healthy controls. In contrast, the more "intense" inflammatory diseases such as GPA, sarcoidosis, and NSOI did demonstrate higher histopathologic inflammation and fibrosis. This has implications in prognosis, therapeutic selection, and response monitoring in orbital inflammatory disease.

Ocular Survival Following Intravitreal Melphalan as Adjuvant Treatment for Vitreous Retinoblastoma Seeding.

Purpose: To evaluate the efficacy of intravitreal chemotherapy for vitreous seeding in patients with retinoblastoma (Rb). Design: Retrospective, single-arm cohort study. Methods: This study was conducted at a tertiary eye center. Between 2013 and 2021, 27 patients (27 eyes) with vitreous Rb receiving adjuvant intravitreal melphalan (IVM) as secondary/salvage treatment in one eye were included. Patients who were unable to follow-up or treated elsewhere were excluded. Survival analysis was performed to assess the incidence of enucleation in the melphalan-treated group, as well as in bilateral cases with eyes receiving melphalan and those receiving standard treatment, consisting of chemotherapy, thermotherapy, and enucleation according to the disease stage. Results: The median (interquartile range) follow-up time was 65 months (range, 34-83 months). Seventeen patients (63%) had bilateral disease. Sixteen eyes (59%) were saved. The Kaplan-Meier survival estimates for eyes receiving melphalan were 100% at 1 year (95% confidence interval [CI]:11.2-14.3), 75% (95% CI:14.2-48.9) at 3 years, and 50% at 5 years. Melphalan-treated patients with bilateral disease showed a significantly higher number of saved eyes than the standard treatment group (P=0.002). Tumor recurrence was the primary cause of enucleation, accounting for 36% of the cases. In the vitreous hemorrhage group, the odds of enucleation were 13 times higher (95% CI:1.04-165.28) than in the group without this condition. Conclusion: IVM is an effective treatment option for vitreous seeds. After 3 years of follow-up, the estimated survival rate for saved eyes decreased, and vitreous hemorrhage significantly increased the likelihood of enucleation. Further studies are required to determine the precise effects of IVM.

A Rare Microsporidial Infection in Lamellar Corneal Tissue, following Transepithelial Photorefractive Keratectomy.

The aim of this study was to report a unique case of microsporidial keratitis over deep anterior lamellar keratoplasty after transepithelial photorefractive keratectomy surgery that was successfully treated with therapeutic lamellar keratoplasty without recurrence at King Khaled Eye Specialist Hospital in Riyadh, Saudi Arabia. The patient presented with recurrent attacks of eye pain, redness, photophobia, and decreased vision. The patient was initially treated as a case of presumed herpetic keratouveitis using antiviral medication and topical steroids with partial improvement. During the last episode, the condition deteriorated and patient underwent therapeutic lamellar keratoplasty. Histopathology indicated an infected graft with evidence of microsporidial infection. The patient was discharged with complete corneal epithelial healing and no signs of recurrence during follow-up. Microsporidial infection is a rare cause of stromal keratitis that affects both immunocompetent and immunosuppressed patients. Microsporidia should be suspected after surface ablation refractive surgery if the patient presents with recurrent symptoms of keratoconjunctivitis or stromal keratitis that are partially responsive to topical steroid therapy.

Acute Sterile Keratolysis After Deep Anterior Lamellar Keratoplasty in a Patient With Keratoconus: A Case Report.

PURPOSE: The purpose of this study was to report the outcomes of using gamma-irradiated sterile cornea (GISC) as a deep lamellar keratoplasty (DALK) graft in a patient with keratoconus. METHODS: This is a case report. RESULTS: A 33-year-old male patient diagnosed with keratoconus underwent DALK using a GISC and developed a persistent epithelial defect which eventually led to sterile keratolysis necessitating further surgical interventions. Management and slitlamp photography, anterior segment optical coherence tomography (AS-OCT), and histopathological examination of the explanted graft are described in detail. CONCLUSIONS: This is the first reported case of sterile keratolysis after the use of GISC lenticule in DALK in a healthy patient with keratoconus. The underlying pathophysiology is not clearly understood, and some theories have been proposed in this report. Surgeons need to be aware of this rare complication and are encouraged to have a low threshold for graft replacement to ensure good clinical and visual outcomes. Developing a prospective complication registry to document complications after the use of GISC lenticules in ophthalmic surgery is recommended.

Angiolymphoid hyperplasia with eosinophilia: a case series and literature review.

PURPOSE: Angiolymphoid hyperplasia with eosinophilia is an uncommon chronic inflammatory condition of unknown etiology. Orbital and adnexal involvement findings are variable and often nonspecific. METHODS AND RESULT: We report six patients with angiolymphoid hyperplasia of the orbit, their clinical and histopathological characteristics, and a review of previously published literature with this diagnosis between 1980 and 2021. CONCLUSION: ALHE has definite histopathologic features but inconclusive radiological studies. The ophthalmologic findings of this entity overlap significantly with other similar variants and may be thought as equivalent lesions.

Ophthalmic histiocytic lesions (diseases of the L group): A multicenter clinicopathological study of 18 cases and review of literature.

INTRODUCTION: Langerhans cell histiocytosis (LCH) and Erdheim-Chester disease (ECD) are rare histiocytic disorders in the L (Langerhans) group diseases. They range from self-limited benign diseases to lethal disseminated forms. METHODS: This retrospective study was conducted in 3 tertiary hospitals in Saudi Arabia and Brazil. Histopathological records were searched for all patients diagnosed with ocular and periocular histiocytic disorders from January 1993 to December 2018. Histopathological slides and medical files were reviewed for data collection and simple analysis of demographics, clinical manifestations, and management. The relevant literature is reviewed. RESULTS: Twenty-two eyes of 18 patients with biopsy-proven histiocytic disorders in the L group were included. Female-to-male ratio was 1.25:1. Average age at presentation was 14 years (range, 1-54). LCH was diagnosed in 14 eyes, while eight eyes had ECD. All LCH cases were unilateral and confined to the bone as cases of eosinophilic granuloma (EG), while patients with ECD were bilateral. Commonest presentations in EG and ECD were eyelid swelling (85.7%) and periocular xanthomas (75%), respectively. Orbit was involved in 100% of EG cases, with bony erosion in 54.5%. Relevant systemic involvement was found in 100% of ECD and 21% of EG cases. Surgical intervention was needed in 16 of the 22 eyes (72.7%). All EG and 25% of patients with ECD required surgical excision. CONCLUSIONS: Histiocytic disorders are a rare group of diseases, including the L group. Relevant systemic associations require specific and selective therapy. A high clinical index and multidisciplinary collaboration are essential for the proper evaluation and management of these patients.

Clinicopathological Correlations in Enucleated Globes of Late-Stage Coats Disease with a Review of the Literature.

BACKGROUND: Coats disease may cause diagnostic dilemma because of its variable clinical presentation that can be suspicious of retinoblastoma. Late sequelae of the disease are blinding with possible enucleation. We demonstrate the main histopathological findings of Coats enucleated eyes with literature review. METHODS: This was a retrospective study of all enucleated globes diagnosed as Coats disease over 30 years and were reviewed by two pathologists. The corresponding demographic data, clinical presentation, pre-operative clinical impression, and indication for enucleation were collected. Descriptive analysis of our own series data was performed. Our findings were then correlated to published data that were collected from 1983 to 2021 from the PUBMED database in English-written language. Shields classification was used as an inclusion criterion for the published reports to be analyzed. RESULTS: We had seven enucleated globes with Coats disease. Mean age at presentation was 3.2 years (range 3 months to 9 years). Male predominance was observed in 6 and all cases were unilateral. Strabismus was the most common initial presentation (57%, n = 4), followed by leukocoria (43%, n = 3). Indication for enucleation was mostly suspected retinoblastoma (57%, n = 4). Four eyes were classified as stage 4, and 2 had advanced stage 5 changes. Histopathologically, subretinal fluid with lipid-laden macrophages was seen in all cases, the anterior chamber was shallow in 5/7 with angle neovascularization in 2/7. Telangiectatic vessels were clearly observed in 4/7. CONCLUSION: Coats disease is a potentially visually disabling disease that is mostly unilateral in 95%, has male predominance of 81%, and wide age range with a mean of 17 years. In Saudi Arabia, the disease seems to present at younger age, tends to be more advanced, and may be indistinguishable from retinoblastoma at the time of diagnosis. Shields staging of Coats is highly recommended to be followed clinically to unify the pathways for treatment and to correlate the concluded outcomes.

Long-term outcomes and causes of intrastromal corneal ring segment explantation in a tertiary eye hospital.

PURPOSE: To evaluate the causes and long-term outcomes after intrastromal corneal ring segment (ICRS) explantation in the King Khaled Eye Specialist Hospital. METHODS: This was retrospective cohort study. Two groups were analyzed: Group one, ICRS surgery done in our hospital (n = 41) and group two, surgery done outside but removed in our hospital (n = 29). Causes and postoperative management after ICRS removal were analyzed. For statistical analysis, groups were analyzed into two subgroups of causes of ICRS removal: Visual disturbance versus extrusion/infection/neovascularization (NV) subgroups; and two subgroups of postoperative treatment: Corneal transplant (CT) versus Contact lens (CL)/eyeglasses subgroups. RESULTS: The most common cause of ICRS removal in group one was visual disturbance (45.2%) while in group two was extrusion (41.2%). CL is the preferable management after explantation. 76% of ICRS removal occurred during the first 4 years. In group 1, there was significant worse preimplantation visual acuity (P = 0.02) in CT subgroup versus CL/eyeglasses. CT subgroup had lower pachymetry of 437.4 µm (P = 0.04) and higher myopia of 8.05 (P = 0.03) than CL/eyeglasses subgroup. For group two, there was a significant improvement in uncorrected visual acuity in visual disturbances subgroup after explantation (P = 0.004). After explantation, visual disturbances subgroup had higher myopia -4.4 than extrusion subgroup -1.15 (P = 0.004). CONCLUSION: Seventy-six percent of ICRS removal occurred during the first 4 years. High myopia and pachymetry lower than 437 um were associated with visual disturbances and further management with corneal transplantation. High myopia was also associated with visual disturbances in surgeries done outside our hospital.

Periocular Pigmented Basal Cell Carcinomas: Clinicopathologic Features and Mutational Profile.

PURPOSE: Pigmented basal cell carcinomas (PBCC) is an uncommon variant of basal cell carcinoma of the periocular region with limited information in the literature. We highlight the clinicopathological profile and somatic mutations in periocular PBCC. METHODS: The clinicopathological features and somatic mutations in patients with periocular PBCC were examined and compared with periocular non-PBCC reported in the literature. Next-generation sequencing panel analysis for the excised tumors identified somatic mutations. RESULTS: In a total of 31 patients, PBCC was common in females (54%; p = 0.03); as a unilateral lower eyelid (n = 22; 71%), solitary mass (n = 30; 98%). Pathologic subtypes were variable. Most were nodular or mixed variants (n = 23; 74%). During the follow up (2.5-4.5 years), 1 patient (3.5%) had a recurrence. The clinical and pathologic features of PBCC were similar to those reported in nonperiocular locations. Somatic mutations detected in 25/31 tumors. Variants in 50/161 genes in the panel were noted. PTCH1 (14/31), TERT (12/31), and SMO (7/31) variants were common. Fifteen patients had novel drivers, including POLE, FANCD2, and CREBBP. SMO mutations were significantly more common in females (7/7), lower eyelid (5/7), and TERT mutations were more common in nodular subtype (10/12). CONCLUSIONS: In this large cohort of a relatively uncommon variant of BCC, the clinicopathological features and tumor behavior of PBCC was similar to periocular non-PBCC. The somatic mutation spectrum of PBCC resembles that reported in nonperiocular cutaneous BCC with novel drivers identified. We identified several potential actionable mutations that could be targeted with molecular therapy.

Recurrent Oncocytoma of the Lacrimal Sac.

Oncocytoma of the lacrimal sac is an extremely rare tumor. In this report, we present the case of an 82-year-old woman who presented with swelling in the region of the lacrimal sac. Systemic examination and ophthalmic examination of both eyes were unremarkable. Computed tomography of the brain and orbits revealed a mass lesion involving the right lacrimal sac with expansion of the related nasolacrimal duct. Neither bone destruction nor tissue invasion was observed. Right external dacryocystectomy and debulking of the tumor were performed. Histopathological examination of the surgical specimen showed oncocytic cells arranged in an adenomatous fashion, and a diagnosis of benign oncocytoma was made. Three years later, the same patient presented with a similar complaint that was pathologically proven to be a recurrent benign oncocytoma of the lacrimal sac.

Demographics and histopathological characteristics of enucleated microphthalmic globes.

Microphthalmia is a rare ocular anomaly with a poorly understood etiology that is most likely related to heritable and/or environmental factors. Many papers have been published pertaining to the clinical manifestations and management of this condition; however, few reports have reported detailed histopathological findings, which are the focus of this study, in addition to highlighting the basic demographics in these cases. This was a retrospective, observational study of all consecutive enucleated microphthalmic globes (with or without cysts) at 2 tertiary eye hospitals in Riyadh, Saudi Arabia. Globes were classified into 2 groups: severe microphthalmos (axial length or mean diameter less than 10 mm in infancy or 12 mm after age 1 year) and mild microphthalmos based on larger measurements. Clinical and demographic data collected included sex, age at enucleation, eye involvement, nationality/region, consanguinity, family history of eye anomaly, pregnancy, systemic disease, or syndromes. For histopathological data, a descriptive analysis was mostly performed. For correlations of some of our qualitative data, Fisher's exact test was used. Eleven cases (6 mild and 5 severe microphthalmos) were initially identified with a female to male ratio of 4:7. Ten patients were Saudis, 7 of whom were from the central region. Consanguinity was found in 36% (4/11), and 3 of them had other ocular or systemic abnormalities (duodenal atresia, microcephaly, kidney agenesis, cryptophthalmos, and dysmorphic facial features). Histopathological data were available for 10 cases, half of which showed a coloboma and/or anterior segment anomaly. There was no significant correlation among gender, severity of microphthalmos or the presence of coloboma, although severe microphthalmic globes had a higher median of abnormal intraocular structures (9-interquartile range = 2 compared to 6-interquartile range = 1 in the mild group). Aphakia was found in half of the globes with associated anterior segment dysgenesis. We have concluded that microphthalmos is a visually disabling congenital anomaly that can be isolated or associated with other periocular or systemic anomalies, possibly in relation to consanguinity in our cases. Congenital aphakia was found in half of these cases and was mostly associated with absent Descemet's membrane and agenesis of anterior chamber angle structures, supporting previously suggested embryological concepts. These findings necessitate further wider genetic testing and proper premarital counseling in Saudi Arabia.

Lacrimal Gland Lesions Biopsied in a Tertiary Eye Center in Saudi Arabia: A Clinical, Radiological, Surgical, and Histological Review.

PURPOSE: To study the demographics and clinical presentation of biopsied lacrimal gland lesions in a tertiary eye center and determine the accuracy of radiological imaging and blood investigations in reaching the diagnosis. We also studied the histopathological outcome of different lacrimal gland biopsy approaches. MATERIALS AND METHODS: A retrospective review of patients' charts from 2014 to 2021 who underwent lacrimal gland biopsy. The data collected included demographics, clinical presentations, surgical approaches used, blood workup done, and histopathological and radiological diagnoses. The accuracy of radiological imaging in diagnosing lacrimal gland pathologies was evaluated by comparing radiological interpretation to the final pathological report. RESULTS: In a total of 48 cases, the most common lacrimal gland lesion was nonspecific inflammation of the lacrimal gland (34%, n=17) followed by lymphoproliferative lesions (25%, n=12). Females (62.5%, n=30) were more affected than males (37.5%, n=18). Other lesions included pleomorphic adenoma, angiolymphoid hyperplasia with eosinophilia, and IgG4 disease. Complete blood investigations were performed in 45.8% of patients and a systemic disease was found in only 18.2%. The initial assumptive diagnosis based on MRI and CT scan images was congruous with the histopathological diagnosis in 42% and 12%, respectively. Three surgical approaches were used for incisional biopsy in this study, including sub-periosteal, trans-septal, and palpebral lobe biopsy. Lateral orbitotomy was done in all excisional biopsy cases. We found no statistical difference in the histopathological outcome between the different surgical approaches used. CONCLUSION: Nonspecific inflammation and lymphoproliferative disorders are the most common causes of lacrimal gland lesions. Blood work-up should not be used to waive off the need for lacrimal gland biopsy, and the diagnosis should preferably be based on histopathology results. The MRI is a useful tool to diagnose lacrimal gland lesions; however, histopathology remains the gold standard method.

Ophthalmic histiocytic lesions: a baseline demographic and clinicopathological study of 28 cases from two eye centers.

PURPOSE: Ophthalmic histiocytic lesions comprise a heterogeneous rare group of disorders that are characterized by an abnormal proliferation of histiocytes and may affect all age groups of both sexes. The aim of this study was to highlight the basic demographic, clinical, and histopathological characteristics of this rare group of diseases in ophthalmic practice, which has not been previously studied in this area. Only individual cases have been previously reported. METHODS: This was a retrospective study of all biopsied ocular and periocular histiocytic lesions from two centers, King Khaled Eye Specialist Hospital (KKESH) and King Abdulaziz University Hospital (KAUH) in Riyadh, Saudi Arabia, from January 1993 to December 2018. The histopathological diagnosis was confirmed, and the cases were re-classified by reviewing all histopathological slides. The corresponding demographic and clinical data were analyzed. A relevant literature review was also carried out for comparison of our collected analyzed data to published data and to draw our own conclusions. RESULTS: A total of 34 ocular/periocular histiocytic lesions in 28 patients who were mostly Saudis (92.9%) were included. The male-to-female ratio was 4:3. The median age at presentation was 6.4 years (range: 2.8-35 years). Twenty-two patients had unilateral involvement, and six patients had bilateral lesions. In patients with Langerhans cell histiocytosis (LCH; L group), the most common presenting findings were eyelid swelling (75%), periocular tenderness (37.5%), proptosis/globe displacement (37.5%) eyelid erythema (25%), and orbital pain (12.5%). In patients with Rosai Dorfman disease (RDD; R group), proptosis/globe displacement occurred in all patients and 80% had decreased vision. Patients in the C group (Cutaneous non-LCH histiocytoses) had variable clinical features because of the different locations of the histiocytic lesions, with the majority involving the eyelids (66.7%). Diagnosis was accurately reached clinically in 38.8%, 33.7%, and 46.7% of patients in the L, C, and R groups, respectively. Overall, the clinical diagnosis was in concordance with the histopathologic diagnosis in 14 out of 34 lesions (41.2%). CONCLUSIONS: Histiocytic disease is more likely to be overlooked clinically owing to its rarity. In the C group, juvenile xanthogranuloma (JXG) was the most commonly encountered histiocytic lesion and had a tendency to present at a later age with extremely rare intraocular involvement in contrast to previously published reports. The median age at presentation was higher in group R. All patients in group L had strictly unilateral disease, while RDD (group R) was most commonly bilateral. Future research on genetic aspects, management, and prognosis is necessary.