Volume 60 · Issue 11 · 2024

This issue focuses on the research progress of ocular tumors and ocular pathology. The responsible editorial committee responsible for the planning, composition and review of this issue is Professor Li Bin.

Ocular tumor pathology, an important part of ophthalmic pathology, plays a supporting role in understanding the characteristics of ocular tumors and making decisions of the diagnosis and treatment. With the rapid development of ocular oncology in China, the need for specialization and standardization of ocular tumor pathology has become increasingly prominent. Based on the advancement and application of ocular tumor pathology diagnostic techniques, this article points out the main issues in the pathological diagnosis of ocular tumors in China and emphasizes the importance of improving the pathological diagnosis and research level of ocular tumors via different methods and pathways, such as accelerating the construction of ocular tumor pathology research platforms and bases, cultivating professional teams of ocular tumor pathology diagnostic talents, and promoting the scientific research and clinical medical education in ocular tumor pathology. The aim is to provide guidance for a comprehensive improvement of the pathological diagnostic capabilities for ocular tumors in China.

Retinoblastoma, one of the most common intraocular malignancies in infants and young children, seriously affects the vision and life. The in-depth study of the origin and pathogenesis of retinoblastoma, which remain controversial, is crucial. This article summarizes the research progress on the cell origin of retinoblastoma and the second hit theory, aiming to provide a theoretical basis for the diagnosis, treatment, and prevention of retinoblastoma.

To investigate the significance of the preferentially expressed antigen in melanoma (PRAME) in the differential diagnosis of the conjunctival malignant melanoma and pigmented nevus.

Specimens from 86 patients with conjunctival malignant melanoma (42 males and 44 females, aged 18 to 84 years) and 86 patients with conjunctival pigmented nevus (47 males and 39 females, aged 1 to 82 years) were collected at Zhongshan Ophthalmic Center, Sun Yat-sen University from January 2017 to July 2024. Immunohistology was performed to detect the PRAME expression. The difference of PRAME expression in the two kinds of conjunctival melanocyte hyperplasia lesions and the correlation of PRAME expression with clinical stages of the conjunctival malignant melanoma (T1 to T4) were analyzed.

Most patients with malignant melanoma had a positive PRAME expression (89.53%, 77/86), while only 1 patient with pigmented nevus showed a positive PRAME expression (1.16%, 1/86). The positive expression rate of the PRAME in conjunctival malignant melanoma tissues was significantly higher than that in conjunctival pigmented nevi (P<0.05). The PRAME had a sensitivity and specificity of 89.53% and 98.84%, respectively. The expression of the PRAME among patients with conjunctival malignant melanoma in different age groups (>50, 30 to 50, <30) was significantly different (P<0.05). However, the PRAME expression had no difference in different clinical stages of the conjunctival malignant melanoma (P>0.05).

The PRAME has significance in discriminating the conjunctival malignant melanoma and pigmented nevus. It is a useful biomarker in the diagnosis of conjunctival malignant melanoma.

To analyze the clinical and histopathological features of uveal leiomyoma.

A retrospective study was performed on 19 patients with uveal leiomyoma confirmed by histopathological examination in Beijing Tongren Hospital from January 2018 to May 2023. All patients underwent local resection of the tumor. Clinical data of the patients, such as gender, age, clinical manifestations, tumor location, size, and B-scan ultrasound examinations were collected. The pathological morphological characteristics of the tissue (cell type) and the expression of the immune markers, including smooth muscle actin, actin, and neural cell adhesion molecule (CD56), were evaluated.

Among the 19 intraocular leiomyoma patients, there were 5 males and 14 females. The average age was (38.9±13.7) years, ranging from 14 to 64 years. The course of the disease ranged from 1 to 36 months with an average of (9.3±8.7) months. The most common clinical manifestation was blurred vision (12/19), followed by decreased vision (4/19), increased IOP (2/19), and visual occlusion (1/19) in patients. The tumor was located in the ciliary body in 10 female and 5 male patients, including 2 patients with the iris involved, and in the choroid in 4 female patients. Two patients with a history of breast fibronenoma had uveal leiomyoma in the ciliary body and the choroid, respectively. One patient with a history of uterine leiomyoma suffered uveal leiomyoma in the ciliary body. B-scan ultrasonography showed that the tumor was a solid and medium-low echoic lesion with a clear boundary in all eyes. We divided these leiomyomas into two histopathological types: spindle cell type (15/19) and round cell type (4/19). Immunohistochemical staining disclosed smooth muscle actin and actin were expressed in all tumor cells (19/19, 100%), and CD56 was positive in 16 of 19 eyes (84.2%). The positive expression rates of estrogen and progesterone were 0/19 and 2/19. During the follow-up of 7 to 71 months after surgery, no tumor metastasis occurred. Only 1 male patient had tumor recurrence.

The most common site of uveal leiomyoma is the ciliary body, the major clinical manifestation is blurred vision, and the prognosis is good. Most of the tumors are spindle cell tumors, with myogenic and neurogenic histological characteristics. Although uveal leiomyoma is more frequently found in women of reproductive age, it shows no significant correlation with estrogen and progestational hormones.

To investigate the clinicopathological features of orbital and eyelid inflammatory myofibroblastic tumors (IMTs).

A retrospective analysis was conducted among 13 patients with IMTs treated at Tianjin Eye Hospital between January 2000 and October 2023. The clinicopathological data, immunohistochemical staining characteristics, molecular phenotypes, and follow-up outcomes were collected and analyzed.

The study cohort comprised 7 males and 6 females. The median age was 44 (22, 68) years. The tumor was observed in the left eye in 6 cases and the right eye in 7 cases. The age at onset ranged from 5 to 76 years, with a disease course of 1 month to 2 years before tumor excision. The tumor was located within the orbit in 10 cases (including one case of a systemic multifocal lesion) and in the eyelid in 3 cases. Pathological characteristics of the tumors were mainly proliferation of spindle or ovoid fibroblasts and myofibroblasts, with varying degrees of mucoid degeneration or collagenization of the mesenchyme, and varying amounts of lymphocytes and plasma cells infiltrated in the background. Immunohistochemical analysis revealed that Vimentin and α-SMA were positive in all cases (13/13, 13/13), ALK1 was positive in 5 cases (5/11), CK was positive in 1 case (1/1), and Desmin was positive in 1 case (1/6). ALK fluorescence in situ hybridization was positive in 2 out of 3 cases, and EBER in situ hybridization was negative in 6 cases. Nine patients were available for the follow-up of 7 to 139 months. Seven patients remained tumor-free, 2 experienced relapses, and no deaths or metastases were reported.

Orbital and eyelid IMTs predominantly occurred in adults, with localized lesions in most cases and favorable prognoses. The disease was histopathologically characterized by proliferation of fibroblasts and myofibroblasts. The accurate diagnosis depended on a comprehensive assessment of the morphological features of the tumor histopathology as well as immunohistochemical markers such as ALK and α-SMA, and molecular detection.

To explore the characteristics and eye disease distribution of human immunodeficiency virus (HIV)-infected or acquired immune deficiency syndrome (AIDS) patients reported by Beijing Tongren Hospital, Capital Medical University.

A retrospective case series study was conducted. Data of HIV-infected or AIDS patients who were reported for the first time in the Chinese Center for Disease Control and Prevention Information System by Beijing Tongren Hospital, Capital Medical University from January 1, 2012 to December 31, 2021 were collected. Epidemiological data such as the patient′s gender and age were recorded, and information such as the patient′s clinical diagnosis, department classification, and laboratory test results were retrieved from the hospital′s outpatient and emergency system and laboratory information system.

A total of 191 HIV-infected or AIDS patients were included, with an average age of (36.71±13.52) years, including 177 males and 14 females. The proportion of male and female patients showed no statistically significant change over the years (P>0.05). Most cases were initially diagnosed in the department of ophthalmology (75 cases, 38.22%), followed by the department of dermatology (49 cases, 25.65%). There were 42 cases (56.00%) reported in the fundus group, 10 cases (13.33%) in the cataract group, 8 cases (10.67%) in the refractive center, and other cases in the glaucoma, cornea, and ocular tumor groups. The ophthalmological diagnoses included uveitis (21 cases, 28.00%), retinopathy (13 cases, 17.33%), cataract (11 cases, 14.67%), refractive error (7 cases, 9.33%), glaucoma (4 cases, 5.33%), retinal detachment (3 cases, 4.00%), vitreous hemorrhage (3 cases, 4.00%), cytomegalovirus retinitis (2 cases, 2.67%), ocular tumor (2 cases, 2.67%), optic neuropathy (2 cases, 2.67%), conjunctivitis (2 cases, 2.67%), keratoconus (1 case, 1.33%), chronic dacryocystitis (1 case, 1.33%), lacrimal duct obstruction (1 case, 1.33%), corneal endothelial decompensation (1 case, 1.33%), and ectropion (1 case, 1.33%). Some patients had co-infections with syphilis, hepatitis B, and hepatitis C.

There are undiagnosed HIV-infected or AIDS patients in some departments of non-infectious general hospitals, and the ophthalmological manifestations are mostly uveitis and retinopathy. Ophthalmologists should pay attention to the HIV infection or AIDS infection status of patients with eye diseases such as uveitis and retinopathy to reduce the risk of occupational exposure.

To explore the distribution characteristics of symptoms and signs of respiratory mycoplasma pneumoniae infection complicated with conjunctivitis in children of different age groups.

A retrospective case series study was conducted. Data of children who were treated in Beijing Children′s Hospital Affiliated to Capital Medical University from September 20, 2023 to November 30, 2023, had definite mycoplasma pneumoniae infection as confirmed by mycoplasma pneumoniae nucleic acid or mycoplasma pneumoniae IgM antibody test, and had conjunctivitis as the first diagnosis in ophthalmology department were continuously collected. The included children were divided into infant group (age<4 years), preschool group (age 4 to 6 years), and school-age group (age>6 years) for analysis. Information such as the time of ocular symptoms onset, the time of systemic symptoms onset, conjunctival sac secretion, subconjunctival hemorrhage, conjunctival congestion, corneal epithelial damage, co-infection with other pathogens, and treatment of all children was collected and compared among children of different age groups.

During this period, there were a total of 31 133 children with positive laboratory test results for mycoplasma pneumoniae. Among them, 835 children visited the ophthalmology department during the same period, and 124 cases (229 eyes) had conjunctivitis as the first diagnosis. The age was (5.43±2.83) years, including 72 males and 52 females. There were 37 cases (69 eyes) in the infant group, 48 cases (92 eyes) in the preschool group, and 39 cases (68 eyes) in the school-age group. Among the 229 eyes, 179 eyes (78.16%) had conjunctival secretion, all manifested as mucopurulent secretion; 12 eyes (5.24%) had corneal epithelial defect; and 26 eyes (11.35%) had subconjunctival hemorrhage. There was 1 eye (1.45%) with subconjunctival hemorrhage in the infant group, 16 eyes (17.39%) in the preschool group, and 9 eyes (13.24%) in the school-age group. The proportion of subconjunctival hemorrhage in the preschool group and school-age group was higher than that in the infant group (both P<0.05). Thirty-nine cases (31.45%) were found to have co-infection with viruses in laboratory tests, including influenza A virus, adenovirus, respiratory syncytial virus, and coxsackievirus. The proportion of children in all age groups with ocular symptoms first was higher than that with systemic symptoms first. There was no statistically significant difference among children in the three age groups in terms of whether there was conjunctival secretion, whether there was corneal epithelial damage, whether there was co-infection with viruses, and the interval between ocular symptoms and systemic symptoms onset (all P>0.05).

The characteristic ocular manifestations of children with mycoplasma pneumoniae infection complicated with conjunctivitis are conjunctival congestion and subconjunctival hemorrhage, and the signs are more obvious in preschool children. The conjunctival sac secretion of such children with conjunctivitis is mostly manifested as mucopurulent. Ocular symptoms may be the first manifestation of mycoplasma pneumoniae infection.

This article reported four cases of sebaceous gland carcinoma of the eyelid with other tumors. Among them, three cases were co-occurred with other ocular tumors, two cases with visceral malignancies, and one case with chronic lymphocytic leukemia/small lymphocytic lymphoma. Immunohistochemistry and/or whole-exome sequencing confirmed that the two cases with visceral malignancies did not meet the criteria for Muir-Torre syndrome. Additionally, whole-exome sequencing was performed on two cases of sebaceous gland carcinoma of the eyelid, both revealing mutations in the ZNF750 gene. Surgical interventions included excision of the eyelid tumors in three cases and enucleation of orbital tissues and eye removal in one case. Follow-up results showed no recurrence in two cases with eyelid tumors and one case with orbital invasion, while one patient died due to peritoneal metastasis from ovarian cancer.

The patient was a 52-year-old male. His right eye had been swollen for more than 6 years and he had once been diagnosed with "inflammatory pseudotumor of the right eye (lacrimal gland type)" and underwent surgical resection. He was admitted to the hospital due to the recurrence of swelling in the right eyelid accompanied by aggravated exophthalmos. The patient had high-myopia in both eyes, and there was a mass in the lacrimal gland area of his right eye. Imaging examinations showed relevant manifestations of the mass in the lacrimal gland area of the right orbit. During the operation, the characteristics of the mass in the right orbit were observed. Post-operative pathological examinations found that there were hyperplasia of histiocytes, lymphocytes, plasma cells, etc. in the diseased tissues. Immunohistochemical examinations had corresponding results. The result of gene rearrangement PCR detection was that no clonal amplification peaks of IgH and IgK were found. Finally, the patient was diagnosed with extranodal Rosai-Dorfman disease accompanied by an increase in IgG4-positive plasma cells. After 3-year follow-up, the patient was in good condition and there was no recurrence of the mass.

A 64-year-old male farmer diagnosed as lens subluxation, cataract, secondary glaucoma, iris tear, old trauma and lower eyelid ectropion underwent cataract extraction, intraocular lens suspension fixation and coreoplasty. Mild intermittent ophthalmic pain occurred from half a month after surgery, and suppurative endophthalmitis was diagnosed 23 days after surgery. Vitrectomy was performed. The specimen culture result was Nocardia cyriacigeorgica. Gatifloxacin ophthalmic gel was effective for the infection.

The patient was a 17-year-old female. Because of blurred vision in both eyes for 1 month, he went to the Department of Fundus Medicine, Optometry Hospital affiliated to Wenzhou Medical University. Deny history of hypertension, diabetes, drug and food allergies. Eye examination: corrected visual acuity was 0.05 for the right eye and 0.4 for the left eye; IOP was 11.6 mmHg (1 mmHg =0.133 kPa) in the right eye and 10.3 mmHg in the left eye; There is no conjunctiva congestion in both eyes, the cornea is transparent, the anterior chamber is clear, the depth is normal, the pupil is round, the light response is sensitive, and the lens is transparent; The tumor body can be seen at the end of the thick nourishing vessel below the retina of the right eye, and the lower retina is detached (Quintessential Picture 1A); Tumor body and hyperplasia traction can be seen at the end of the thick nourishing vessel above the temporal side of the left eye retina, and hard exudation can be seen in the macular area (Quintessential Picture 1B). Fluorescein fundus angiography examination is shown in Essence Pictures 2 and 3. Clinical diagnosis: binocular Von Hippel-Lindau syndrome.

The incidence of myopia is continuously increasing worldwide, especially in China, where the prevention and control of myopia is of great significance. Accurate prediction of myopia and early intervention are of great importance for slowing down the development of myopia and reducing the social burden. This article reviews the research progress of myopia prediction models and their predictive performance in recent years. It includes models based on refractive power and ocular biological characteristics, such as those using parameters such as refractive power, axial length, and percentile curves for prediction; models combined with environmental factors, which explore the relationship between myopia in school-age children and the age of onset, parents′ myopia, education, and various living environmental factors; models based on genetic factors, which predict by evaluating parents′ myopia status and single nucleotide polymorphisms discovered in genome-wide association studies. In addition, the article also introduces the application of artificial intelligence in myopia prediction, such as machine learning and deep learning algorithms that can predict changes in axial length growth and refractive power. These research advances provide a reference for establishing more accurate myopia prediction models and help achieve precise and personalized myopia prevention and control.

PM_2.5 is a fine particulate matter with an aerodynamic equivalent diameter of less than or equal to 2.5 μm, and it is the primary pollutant that causes haze. In recent years, numerous research results have shown that PM_2.5 is associated with various ophthalmic diseases and its pathogenic mechanism is complex. It can disrupt the homeostasis of the tear film and the function of the meibomian glands, leading to dry eye; increase the risk of allergic and other types of conjunctivitis; may cause blepharitis; affect the homeostasis of the corneal epithelium and promote the development of keratopathy; the correlation with cataract is controversial; it is related to the risk of glaucoma; it is associated with age-related macular degeneration; it may also indirectly promote diabetic retinopathy. Prevention and control measures include controlling the level of PM_2.5, strengthening publicity and screening, reducing going out and wearing goggles, etc. PM_2.5 is closely related to ophthalmic diseases, but its specific pathogenic mechanism still requires more research to explore.

Lenticule intrastromal keratoplasty (LIKE) was introduced clinically in the 1980s as a refractive surgery. With the advancements of femtosecond laser, LIKE has been significantly revitalized. Currently, femtosecond laser-assisted LIKE has been demonstrated to be a safe and effective surgical procedure to correct hyperopia, but the predictability is still a major limitation. In this article, we review the history, procedures, influencing factors of predictability and challenge of LIKE to provide reference for clinical practice of femtosecond laser-assisted LIKE.