Volume 55 · Issue 11 · 2019

This issue focuses on the research progress of diagnosis and treatment of orbital diseases. Professor Fan Xianqun is the responsible editorial committee responsible for the planning, composition and review of the key contents of this issue.

Medical artificial intelligence (AI) promotes technological revolution and industrial transformation in the medical field, and the medical level of orbital disease will also be improved with the in-depth development of AI diagnosis and treatment. The problems should be solved in the orbital disease AI research at the initial stage include: the complex knowledge system of orbital disease requires cross-disciplinary knowledge to improve the level of diagnosis and treatment; the early diagnosis and treatment of orbital disease is absent, and effective technical methods are needed to crack the screening dilemma; the operation of the disease is difficult, and special mechanical devices are needed to break through the boundaries of surgical technique; the medical team of orbital disease is scarce, and it is necessary to share the medical resources effectively. In order to solve the problems mentioned above, the following research directions of orbital disease AI diagnosis and treatment should be included: the orbital disease AI diagnosis system, the orbital disease AI screening platform, the orbital surgery robot and the orbital disease telemedicine. Through the development of multidisciplinary diagnosis and treatment, the in-depth exploration of interdisciplinary basic research, the extensive implementation of clinical research, and the extensive integration of industry and academic communication, the AI diagnosis and treatment of orbital disease is approaching a new era. (Chin J Ophthalmol, 2019, 55: 801-805)

Retinoblastoma, the most frequent malignant intraocular tumor in childhood, is caused by oncogenic mutations in the RB1 tumor suppressor gene. Identification of these mutations in patients is important for genetic counseling and clinical management of relatives at risk, and thus probands are conventionally applied gene detection in developed countries. However, gene diagnosis is still in the elementary period in China. This article reviews the characteristics of retinoblastoma genetics and the current status of genetic testing in China, so as to attract more attention from ophthalmologists and to promote regulated gene diagnosis in clinical work. Not only does good understanding of retinoblastoma genetics support optimal care for retinoblastoma children and their families, but also promotes the development in foundational research. (Chin J Ophthalmol, 2019, 55: 806-810)

Patients with thyroid associated ophthalmopathy often have elevated intraocular pressure. Patients and doctors are often confused about whether intraocular hypertension in thyroid associated ophthalmopathy needs to be lowered. There are several theories on the possible causes of this kind of increased intraocular pressure: restriction and compression of the globe by fibrotic and enlarged rectus muscles, increased episcleral venous pressure resulting from orbital congestion and venous outflow obstruction, and increased resistance to trabecular outflow. In addition, the patient′s eye position and the device for measuring intraocular pressure also have great impacts on the accuracy of intraocular pressure measurement. At the same time, there are very few patients with thyroid associated ophthalmopathy combined with primary glaucoma. Therefore, whether patients with elevated intraocular pressure need to be treated depends on the specific clinical manifestations of the thyroid associated ophthalmopathy. Intraocular pressure of most patients can be lowered by active treatment for thyroid associated ophthalmopathy; antiglaucoma medical therapy may be necessary for patients whose intraocular pressure cannot be lowered; only very few cases of glaucoma require antiglaucoma drugs or surgery. (Chin J Ophthalmol, 2019, 55:811-813)

Neovascular glaucoma (NVG) is a clinically refractory glaucoma, and there is still a lack of consensus diagnosis and treatment opinions with general guiding significance in domestic clinical practice. In order to standardize the diagnosis and treatment of NVG, the Glaucoma Group of Ophthalmology Branch of Chinese Medical Association formulated this consensus to provide guiding opinions on the etiology, pathogenesis, clinical manifestations and staging, treatment goals and principles, and treatment process of NVG.(Chinese Journal of Ophthalmology, 2019, 55:814-817)

Orbital vascular malformations in children are very common in orbital diseases, which have a great influence on children's vision, appearance and mental health, and can cause many complications. Before 1999, the classification of vascular malformations in China was inconsistent, and there were few treatment methods, mainly surgery, and the curative effect was not ideal. On the basis of reviewing the classification of orbital vascular malformations at home and abroad, this paper comprehensively analyzes the treatment of orbital vascular malformations in children, compares the curative effects of various treatment methods, and puts forward the view that early adoption of effective and appropriate treatment measures will help control the development of orbital vascular malformations for clinical discussion.(Chinese Journal of Ophthalmology, 2019, 55:818-820)

To evaluate the efficacy and safety of an acellular xenogenic dermal matrix (AXDM) as a spacer graft in the surgery to treat upper and/or lower eyelid retraction (UER/LER) in patients with thyroid associated ophthalmopathy (TAO).

This was a retrospective case series study. From January 2016 to December 2017, all the TAO patients who underwent the eyelid retraction surgery with an AXDM as a spacer graft in Shanghai Ninth People′s Hospital, Shanghai Jiaotong University School of Medicine were included in the study. The follow-up duration was at least 6 months. Eyelid height, ocular discomfort symptoms, and complications were recorded and used to evaluate the efficacy and safety. The treatment outcomes were divided into good, acceptable and unacceptable outcomes. Nonparametric test was used to compare the efficacy of upper and lower eyelid surgery.

Eighty patients (102 eyes) were included, consisting of 43 patients (56 eyes) with UER and 37 patients (46 eyes) with LER. The UER patients included 34 females (median age, 37 years) and 9 males (median age, 47 years). The LER patients included 20 females (median age, 39 years) and 17 males (median age, 40 years). At 6 months after surgery, ocular discomfort was relieved in 79.0% (64/81) eyes; photophobia was relieved in 69.5% (41/59) eyes; tearing was relieved in 94.9% (37/39) eyes; lagophthalmos was relieved in 80.7% (67/83) eyes. In patients with UER, the margin reflex distance was lowered from 8.0 (7.5, 8.0) mm to 3.5 (3.4, 4.0) mm (Z=-6.587, P<0.01). The upper scleral show was lowered from 3.0 (3.0, 3.5) mm to 0 mm (Z=-6.616, P<0.01). In patients with LER, the margin reflex distance was lowered from 8.5 (7.5, 9.0) mm to 5.5 (5.5, 6.0) mm (Z=-5.979, P<0.01). The lower scleral show was lowered from 3.0 (2.5, 3.5) mm to 0.0 (0.0, 0.5) mm (Z=-5.965, P<0.01). In total, 71.3% (57 cases) of the patients acquired good outcomes, 22.5% (18 cases) acquired acceptable outcomes, and 6.3% (5 cases) had recurrence, and no significant difference was found between the patients with UER and LER (33, 8, 2 cases vs. 24, 10, 3 cases, Z=-1.176, P>0.05). No other complications, such as infection, rejection, and dislocation, were observed.

AXDM as a spacer graft can be a reasonable and safe alternative for eyelid retraction in TAO patients, achieving both the functional and aesthetic improvements. (Chin J Ophthalmol, 2019, 55: 821-827)

To report the clinical features and surgical treatment of orbitotemporal neurofibromatosis.

It was a retrospective case series study. The clinical records of 24 patients who were treated for orbitotemporal neurofibromatosis between April 2007 and July 2017 at Beijing Tongren Hospital, Capital Medical University were analyzed. Data collected included sex, age, laterality, periorbital deformities, surgical treatment, follow-up time, complication and recurrence.

Sixteen males and 8 females were included. Age at surgery was (15±7) years (4-30 years). All patients were unilaterally involved. Twenty-three patients (96%) had upper lid involvement and ptosis. Nine patients (38%) had lower lid involvement. Fourteen patients (58%) had lateral canthal disinsertion. Three patients (13%) had brow involvement, 10 patients (42%) had conjunctival involvement and 2 patients (8%) had lacrimal gland infiltration. All patients had tumor debulking procedure. Twenty-two patients (92%) had correction of ptosis. Fourteen patients (58%) required lid reconstruction and lateral canthus reattachment surgery. Three patients (13%) had correction of brow ptosis.One patient (4%) had skull and orbit reconstruction. The median follow-up time was 3.5 (1.0-10.0) years. All patients had improved appearance. Ptosis recurred in 6 patients, but were corrected with surgery. On the last follow-up, 7 patients were free of ptosis. In 14 patients, mild ptosis was noted, but the upper lid did not cover the pupil. In 2 patients the pupil was half covered. Only in 1 patient who had not received ptosis correction surgery the pupil was covered completely.

The periorbital deformities of orbitotemporal neurofibromatosis include upper eyelid infiltration with ptosis, lateral canthal disinsertion and infiltration of lower eyelid, brow, conjunctiva and lacrimal gland. The appearance of patients with orbitotemporal neurofibromatosis can be significantly improved through oculoplastic surgery. (Chin J Ophthalmol, 2019, 55: 828-833)

To summarize the clinical and pathological characteristics of IgG4-related ophthalmic disease (IgG4-ROD) involving the lacrimal gland.

A retrospective case series study. Forty cases (56 eyes) of lacrimal gland lesions were collected in Tianjin Eye Hospital from January 2003 to January 2018 and confirmed by histopathology as lymphocyte and plasma cell infiltration with fibrosis of lacrimal gland tissue, excluding lymphoma, epithelial tumor, mesenchymal tumor and metastasis tumor. The clinical manifestations, serological and imaging examination of the patients were analyzed. Meanwhile, HE staining and immunohistochemical staining of IgG and IgG4 were performed on the pathological specimens. According to the diagnostic criteria, the cases were divided into the IgG4-ROD group and the non-IgG4-ROD group. The clinical and pathological characteristics of the two groups were statistically analyzed by Pearson chi-square and signed-rank test.

In the 40 cases (56 eyes), there were 15 cases (25 eyes) of IgG4-ROD and 25 cases (31 eyes) of non-IgG4-ROD. Statistically significant differences were observed between the two groups in the clinical and pathological characteristics (all P<0.05). About the distribution of eyes position, there were 10 binocular cases and 5 monocular cases in the IgG4-ROD group, and 6 binocular cases and 19 monocular cases in non-IgG4-ROD group (χ²=7.111).There were 21 eyes in the IgG4-ROD group and 5 eyes in the non-IgG4-ROD group about ptosis (χ²=25.631), 4 eyes in the IgG4-ROD group and 21 eyes in the non-IgG4-ROD group about ocular protrusion (χ²=14.992), 23 eyes in the IgG4-ROD group and 15 eyes in the non-IgG4-ROD group about the clear boundary of the tumor (χ²=12.069), 4 eyes in the IgG4-ROD group and 18 eyes in the non-IgG4-ROD group about the involvement of other orbital tissues (χ²=10.266) and 7 cases in the IgG4-ROD group and 3 cases in the non-IgG4-ROD group about the association with other systemic diseases (χ²=6.009). Compared with the non-IgG4-ROD group, the IgG4-ROD group had a heavier lymphocyte and plasma cell infiltration (+++,++,+; 10, 4, 1 vs. 6, 5, 12 eyes, Z=-3.153), and more lymphoid follicles (+++,++,+; 3, 6, 4 vs. 1, 2, 7 eyes, Z=-3.339), interstitial fibrosis was mostly striate (10 vs. 5 eyes, χ ²=8.711), and there were a large number of IgG4⁺ plasma cells [96 (67, 135) vs. 4 (0, 12) cells per high power field, Z=-5.271] and ratio of IgG4⁺ plasma cells/IgG⁺ plasma cells [0.570 (0.500, 0.754) vs. 0.046 (0.000, 0.143), Z=-5.268, all P<0.05). Among the 10 cases of IgG4-ROD with serological examination, 9 cases showed elevated serum in IgG and IgG4. The ultrasonography and CT findings showed the lacrimal gland lesions in the IgG4-ROD group were mostly spindle or kidney shaped with clear boundaries, while the lesions in non-IgG4-ROD were mostly round or irregular with unclear boundaries.

The lacrimal gland lesions of IgG4-ROD are characterized by bilaterally spindle or kidney shaped enlargement with clear boundaries. They are more associates with other systemic diseases. The pathological characteristics are a large number of IgG4⁺ plasma cells infiltration among the lacrimal gland tissue, interstitial striate fibrosis and a large number of lymphoid follicles. (Chin J Ophthalmol, 2019, 55: 834-841)

To analyze the pathogenesis, histopathological classification and clinical features of lacrimal gland occupying lesions.

This was a retrospective case series study. Clinical data of 91 patients (102 eyes) with lacrimal gland area occupying diseases who received ophthalmic surgery in the Second People′s Hospital of Yunnan Province from January 2014 to November 2018 were retrospectively analyzed, including patients′ age, reasons for treatment, gender, imageological examination data and pathological diagnosis results. All patients had more than one medical imaging examination results and histopathological diagnosis results.

Among 91 cases, 46 patients (50.5%) were male and 45 (49.5%) were female. The age distribution ranged from 1.1 years to 72 years old, with an average age of 43 years. All of benign tumors added up to 58 cases (63.7%). Pleomorphic adenoma (43 cases, 47.3%), dermoid cyst (6 cases, 6.6%), and inflammatory pseudotumor (6 cases, 6.6%) were the most common cases in the benign lacrimal gland occupying tumors. There were 33 cases (36.3%) of malignant tumors. Adenoid cystic carcinoma (15 cases, 16.5%), adenocarcinoma (6 cases, 6.6%) and lymphoma (5 cases, 5.5%) had the highest incidence among the malignant lacrimal gland occupying tumors. The most common reason for seeking medical treatment was exophthalmos (50 cases, 54.9%; 30 cases were pleomorphic adenoma). Brow arch mass (22 cases, 24.2%) and pain in and around the eye (9 cases, 9.9%; 5 cases were adenoid cystic carcinoma) were also major reasons.

The most common benign lacrimal gland area occupying lesion in surgery patients of Yunnan is pleomorphic adenoma, which more occurred in patients with exophthalmos as the main symptoms. The most common malignant tumor in the lacrimal gland area is adenoid cystic carcinoma and the most common reason to seek medical advice was pain in and around the eye. (Chin J Ophthalmol, 2019, 55:842-846)

To investigate the anatomical region, histopathological classification and histogensis distribution of ocular mass lesions in South China.

Retrospective cases study. The clinical and pathological data of 7 910 samples with ocular (adnexal) tumors or proliferative lesions which were examined from January 2000 to May 2018 were retrospectively retrieved. The constituent ratios of ocular mass lesions in different anatomical regions and histogenesis have been analyzed.

There were 3 445 males and 4 465 females aged from 3 months to 106 years. Classification by anatomical region. Eyelid 4 976 cases (62.9%): benign-pigmented nevus (31.7%, 1 342/4 235), squamous cell papilloma (12.3%, 519/4 235), seborrheic keratosis (9.4%, 396/4 235); malignant-basal cell carcinoma (48.5%, 359/741), sebaceous gland carcinoma (34.4%, 255/741), squamous cell carcinoma (12.3%, 91/741). Ocular surface 1 449 cases (18.3%): benign-pigmented nevus (26.6%, 359/1 348), squamous cell papilloma (12.8%, 173/1 348); malignant-lymphoma (34.7%, 35/101), squamous cell carcinoma (30.7%, 31/101).Orbit 1 485 cases (18.8%): benign-hemangioma (28.5%, 332/1 167), lacrimal gland (duct) cyst(13.2%, 154/1 167); malignant-lymphoma (44.7%, 142/318), adenoid cystic carcinoma (10.1%, 32/318). Classification by histogenesis: epithelial 2 145 cases (27.1%), cutaneous appendages 378 cases (4.8%), cystoid 1 068 cases (13.5%), mesenchymal 748 cases (9.5%), lymph-hematopoietic 225 cases (2.8%), neurogenic 31 cases (0.4%), melanocytic 1 765 cases (22.3%), others 1 550 cases (19.6%).

Over the past 18 years, the ocular tumors identified at the Second Affiliated Hospital, Zhejiang University School of Medicine most frequently occur in eyelid and originate from epithelium. The most common types are as followings. Benign lesions: pigmented nevus, squamous cell papilloma are the most common types for eyelid and ocular surface, whereas hemangioma, lacrimal gland (duct) cyst and epidermoid cyst are the most common types for orbit. Malignant cancers: basal cell carcinoma is the most prevalent disease in eyelid, whereas lymphoma occurs more frequently in ocular surface and orbit. (Chin J Ophthalmol, 2019, 55: 847-853)

To analyze the histopathological features and histopathological risk factors (HRF) of tumor recurrence after vitrectomy in patients with retinoblastoma (RB).

Retrospective case series. Twenty-nine patients (29 eyes) who underwent enucleation from April 2014 to April 2019 at the Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University due to tumor recurrence after vitrectomy in the other hospitals were enrolled and archived. The pathological sections of the other hospitals were read by the pathologists of the department and the pathological report was written. Histopathological features and HRF were analyzed in this group of patients. The HRF used in this study was defined as tumor invasion of the optic nerve, the choroid (the largest diameter ≥ 3 mm and mostly reaching the inner sclera), the sclera, the anterior segment of the eye, and tumor passing through the scleral and growing outside the eyeball.

Of the 29 patients with RB recurrence after vitrectomy, 18 (62.1%) were male and 11 (37.9%) were female. The age was 1-10 years with a median age of 3 years. Among 29 eyes, the tumor invaded the ciliary body in 19 eyes (65.5%), the iris in 14 eyes (48.3%), the anterior chamber in 10 eyes (34.5%), and the anterior chamber angle in 7 eyes (24.1%). Of the 29 eyes, 27 eyes (93.1%) had HRF. The most common HRF was invading the anterior segment of the eye(77.8%, 21/27).

In patients with recurrence after vitrectomy for RB, the most common tumor invasion site in histopathology is the anterior segment of the eye, particularly the ciliary body. More than 90% of the patients have HRF. Vitrectomy for RB treatment requires a rigorous surgical indication assessment. (Chin J Ophthalmol, 2019, 55: 854-859)

A patient with swelling of the lower eyelid and surrounding tissues of the right eye for 6 months went to the ophthalmology department. The eye examination found that the lower part of the right orbit touched a horizontal strip mass, which was tough in texture, unclear in boundary, and had no tactile tenderness. The outer lower orbital margin is blunt, and the zygomaticofacial soft tissue is thickened and hard; There were scattered flaky red papules on the head and face, and the serum IgE and peripheral blood eosinophil counts and percentages were significantly increased; Imaging examination showed thickening of the right inferior oblique muscle with inflammatory reaction of the surrounding tissues, and slightly larger lacrimal glands in both eyes. Only swelling and hypertrophy of the inferior oblique muscle was found during the exploratory operation of the lower part of the right orbit, and the histopathological examination confirmed the diagnosis of eosinophilic lymphogranuloma.(Chinese Journal of Ophthalmology, 2019, 55:860-862)

A patient with right eye exotropia for 4 months went to the ophthalmology department. Orbital CT examination considered that frontal-orbital-ethmoid communicating osteoma of right eye originated from the skull base (frontal-ethmoid sinus parietal wall). Navigation-assisted endoscopic combined endonasal and external approach was performed to transfer the dangerous operation during tumor resection to the sinus cavity and minimally invasive tumor resection. After operation, the right eye position of the patient returned to normal, and the orbital wall defect area was anatomically reduced without complications.(Chinese Journal of Ophthalmology, 2019, 55:863-865)

A 39-year-old female patient was seen to the ophthalmology department due to repeated visual loss in both eyes for 8.5 years. During the course of the disease, she developed symptoms such as intractable hiccup, vomiting, and persistent itching in the upper body. She was positive for serum aquaporin 4 antibody. She was diagnosed with neuromyelitis optica spectrum disease complicated with antiphospholipid syndrome. After admission, she was given plasma exchange combined with glucocorticoid shock therapy and immunosuppressant to prevent recurrence. She was stable after 16 months of follow-up.(Chinese Journal of Ophthalmology, 2019, 55:866-868)

A patient with blurred vision in the right eye for 7 months and blurred vision in the left eye for more than 1 month went to the neurology department. The patient suffered from dystonia when he was young, and the effect of glucocorticoid treatment was not good. Whole gene sequencing found the mutation of mitochondrial complex Ⅰ assembly factor NDUFAF5. Combined with the genetic test results of the patient's parents and son, the patient was diagnosed with hereditary optic neuropathy with dystonia caused by the mutation of mitochondrial complex Ⅰ assembly factor NDUFAF5. This mutation site is rare in hereditary optic neuropathy, and the treatment effect is not good.(Chinese Journal of Ophthalmology, 2019, 55:869-871)

The patient complained of visual loss for 4 years and went to the ophthalmology department. According to the fundus examination, the patient was considered to have convoluted chorioretinal atrophy, and the biallelic mutation of the ornithine transferase (OAT) gene of the patient was detected. After the ornithine content of the patient's serum was measured, it was diagnosed as convoluted chorioretinal atrophy.(Chinese Journal of Ophthalmology, 2019, 55:872-874)

Surgeon IntroductionFan Xianqun, Chief Physician, Professor, Doctoral Supervisor, Changjiang Scholar Distinguished Professor. Deputy Secretary of the Party Committee of Shanghai Jiaotong University, Secretary of the Party Committee of Shanghai Jiaotong University School of Medicine, Dean of China Hospital Development Research Institute of Shanghai Jiaotong University, Director of Shanghai Key Laboratory of Orbital Diseases and Tumors, and Leader of Ophthalmology Department of the Ninth People's Hospital Affiliated to Shanghai Jiaotong University School of Medicine. Head of Ophthalmology and Orbitology Group of Ophthalmology Branch of Chinese Medical Association, Vice President of Ophthalmologist Branch of Chinese Medical Doctors Association, and Chairman of Ophthalmology Committee of Chinese Anti-Cancer Association; Past President of the Asia Pacific Society of Ophthalmoplastic Surgery, President of the Asia Pacific Society of Ocular Oncology and Ophthalmopathology, Fellow of the Royal College of Ophthalmologists and Fellowship ad hominem of the Royal College of Surgeons of Edinburgh.

The patient was a 74-year-old male. The visual acuity of his right eye gradually declined for half a year, and he went to the Department of Ophthalmology, Bethune First Hospital, Jilin University. Eye examination: the best corrected visual acuity was 0.04 for the right eye and 0.6 for the left eye; IOP was 18 mmHg (1 mmHg =0.133 kPa) in the right eye and 16 mmHg in the left eye; Mild opacity in the lens cortex of both eyes, with a pupil diameter of about 4 mm; The iris stroma in both eyes was sheet-like atrophy and depigmented, mainly inferior, and anterior segment coherence light tomography showed iris cleavage in the depigmented area, obvious narrowing of the chamber angle, partial contact with the corneal endothelium, and disappearance of the peripheral anterior chamber (Quintessence Picture 1AndQuintessence Picture 2）； The optic disc color of both eyes is positive, and the optic cup optic disc ratio is 0.4; Circular macular atrophy in both eyes, fundus coherence light tomography showed atrophy of retinal pigment epithelium and choroid, thinning of neuroepithelium, and severe lesion in the right eye. Clinical diagnosis: Binocular iridoschisis; Senile cataract in both eyes; Binocular myopia; Binocular macular degeneration.

Orbital blowout fractures can easily lead to defects of the orbital wall. In order to restore the continuity of the bone wall and avoid a series of clinical symptoms caused by orbital contents herniation or incarceration, the site of the defect should be reconstructed. The effect of reconstruction depends on the choice of surgical plan and repair material. The typical materials for bone wall defect repair include bone sheet, high density porous polyethylene, titanium mesh, absorbable polymer, bioactive ceramics and tissue engineering bone. This paper reviews the research findings and application of material for repairing of orbital blowout fracture. (Chin J Ophthalmol, 2019, 55: 876-880)