Bilateral tractional retinal detachment in hemoglobin SC disease patient / Descolamento tracional de retina bilateral em hemoglobinopatia S-C

ABSTRACT A 36-year-old black male presented with a progressive loss of visual acuity in both eyes for 7 years. He had a history of tractional retinal detachment in the right eye and vitreous hemorrhage followed by retinal detachment in the left eye. He denied any systemic illness, trauma, or drug abuse. After clinical investigation, he was diagnosed with SC hemoglobinopathy and proliferative sickle cell retinopathy stage V in both eyes.

RESUMO Paciente do sexo masculino, 36 anos, negro, apresentou baixa acuidade visual progressiva em ambos os olhos por 7 anos. Possuía antecedentes de descolamento tracional de retina no olho direito e hemorragia vítrea, seguida de descolamento de retina no olho esquerdo. Negava doenças sistêmicas, trauma ou abuso de drogas. Após investigação clínica, foi diagnosticado com hemoglobinopatia S-C e retinopatia falciforme proliferativa estágio V em ambos os olhos.

Erdheim-Chester disease with chorioretinal and orbital involvement: a case report / Doença de Erdheim-Chester com envolvimento coriorretiniano e orbitário: relato de caso

ABSTRACT A 42-year-old woman presented with bilateral proptosis, chemosis, leg pain, and vision loss. Orbital, chorioretinal, and multi-organ involvement of Erdheim-Chester disease, a rare non-Langerhans histiocytosis, with a negative BRAF mutation was diagnosed based on clinical, radiological, and pathological findings. Interferon-alpha-2a (IFNα-2a) was started, and her clinical condition improved. However, 4 months later, she had vision loss with a history of IFNα-2a cessation. The same therapy was administered, and her clinical condition improved. The Erdheim-Chester disease is a rare chronic histiocytic proliferative disease that requires a multidisciplinary approach and can be fatal if left untreated because of multisystemic involvements.

RESUMO Uma mulher de 42 anos apresentou proptose bi-lateral, quemose, dor nas pernas e perda de visão. Com base em achados clínicos, radiológicos e patológicos, foi diag-nosticada doença de Erdheim-Chester com acometimento orbitário, coriorretiniano e multiorgânico. Trata-se de uma rara histiocitose não Langerhans negativa para a mutação BRAF. Foi iniciado tratamento com interferon alfa-2a (IFNα-2a) e o quadro clínico melhorou. No entanto, quatro meses depois, a paciente apresentou perda visual após a cessação do IFNα-2a. A mesma terapia foi administrada novamente e sua condição clínica melhorou novamente. A doença de Erdheim-Chester é uma doença proliferativa histiocítica crônica rara que necessita de uma abordagem multidisciplinar e pode ser fatal se não tratada, devido a envolvimentos multissistêmicos.

Spectrum of congenital and inherited ocular disorders seen in a genetic clinic: Experience of a developing ocular genetic service

Purpose: Hereditary causes are an important etiological category of childhood blindness. This study reports the real?world experience of a developing ocular genetic service. Methods: The study was carried out from Jan 2020 to Dec 2021 jointly by the Pediatric Genetic Clinic and the Department of Ophthalmology of a tertiary care hospital in North?West India. Children presenting to the genetic clinic with congenital or late?onset ocular disorder(s) and any individual (irrespective of age) suffering from an ophthalmic disorder and referred by an ophthalmologist for genetic counseling for himself/herself and/or his/her family member(s) were included. Genetic testing (exome sequencing/panel?based sequencing/chromosomal microarray) was outsourced to third?party laboratories with the cost of the test being borne by the patient. Results: Exactly 8.6% of the registered patients in the genetic clinic had ocular disorders. Maximum number of patients belonged to the category of anterior segment dysgenesis, followed by microphthalmia anophthalmia coloboma spectrum, lens disorders, and inherited retinal disorders in decreasing numbers. The ratio of syndromic ocular to isolated ocular disorders seen was 1.8:1. Genetic testing was accepted by 55.5% of families. The genetic testing was clinically useful for ~35% of the tested cohort, with the opportunity for prenatal diagnosis being the most useful application of genetic testing. Conclusion: Syndromic ocular disorders are seen at a higher frequency compared to isolated ocular disorders in a genetic clinic. Opportunity for prenatal diagnosis is the most useful application of genetic testing in ocular disorders.

Central retinal artery occlusion with cilioretinal artery sparing secondary to COVID-19: Additional ocular complication

We describe a 68-year-old female patient with unilateral central retinal artery occlusion (CRAO) with cilioretinal artery sparing post-coronavirus disease 2019 (COVID-19) infection. The patient presented with acute vision loss in the left eye 11 days after discharge from a severe COVID-19 infection, with altered D-dimer, C-reactive protein, and fibrinogen levels. The best-corrected visual acuity (BCVA) in the left eye was 20/400; fundoscopic examination revealed diffuse pallor retina with a patent arterial branch from the optic disk to the fovea, confirmed by fluorescein angiography. CRAO with a cilioretinal artery sparing post-COVID-19 may be considered an additional ocular manifestation of the post-acute COVID-19 syndrome spectrum.

Application of CRISPR/Cas9 genome editing technology in hereditary retinal diseases / 中华实验眼科杂志

Several mutant genes for inherited retinal diseases have been identified, but effective treatments are still lacking.The clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein (Cas) system can edit human genomic DNA by nonhomologous end joining or homology-directed repair, offering more possibilities for the treatment of hereditary retinal diseases.CRISPR/Cas9 not only can genetically correct patient-derived induced pluripotent stem cells (iPSCs) to observe their differentiation into retinal cells thereby, thereby exploring the pathogenesis of the disease and implementing cell therapy, but can also be delivered to the body via vectors and directly act on target cells to achieve in vivo gene editing.CRISPR/Cas9 gene editing technology in hereditary retinal diseases has been mainly used in retinitis pigmentosa, hereditary X-linked juvenile retinoschisis, and Leber congenital amaurosis 10, of which the in vitro application of CRISPR/Cas9 for Leber congenital amaurosis 10 has entered the clinical trial stage.In this paper, we reviewed the mechanism and key advances of CRISPR/Cas9 and provided an overview of gene editing in IRDs.

Therapeutic landscape for inherited ocular diseases: Current and emerging therapies

Inherited ocular diseases comprise a heterogeneous group of rare and complex diseases, including inherited retinal diseases (IRDs) and inherited optic neuropathies. Recent success in adeno-associated virus-based gene therapy, voretigene neparvovec (Luxturna®) for RPE65-related IRDs, has heralded rapid evolution in gene therapy platform technologies and strategies, from gene augmentation to RNA editing, as well as gene agnostic approaches such as optogenetics. This review discusses the fundamentals underlying the mode of inheritance, natural history studies and clinical trial outcomes, as well as current and emerging therapies covering gene therapy strategies, cell-based therapies and bionic vision.

Mapeamento de retina nas interconsultas oftalmológicas: um estudo transversal e epidemiológico em um hospital de referência do estado de São Paulo / Indirect ophthalmoscopy in ophthalmological interconsultations: a cross-sectional and epidemiological study in a reference hospital in the state of São Paulo

RESUMO Objetivo Avaliar os mapeamentos de retina realizados em interconsultas oftalmológicas, analisando as prevalências de alterações encontradas e comparando-as com o motivo da interconsulta. Métodos Estudo transversal, com dados encontrados durante exame de mapeamento de retina de pacientes internados ou em atendimento no pronto-socorro. Os dados analisados de cada paciente foram idade, sexo, especialidade médica solicitante, motivo da interconsulta e achados do exame fundoscópico. Resultados Foram avaliados 104 pacientes, com prevalência de alterações ao exame em 43,27%. Os motivos mais frequentes de solicitação de avaliação oftalmológica foram trauma (16,35%) e alterações neurológicas (15,38%). O achado com maior prevalência foi o edema de papila, presente em 17,3% das avaliações gerais. Outros achados muito prevalentes foram as retinopatias diabética e hipertensiva, ambas com 11,53% na avaliação geral, mas com 83,3% e 53,84% de prevalência nos pacientes cujos motivos da consulta foram diabetes mellitus descompensada e crise hipertensiva, respectivamente. Conclusão O edema de papila e as retinopatias diabética e hipertensiva foram as alterações mais prevalentes, o que demonstra a importância do atendimento multidisciplinar sempre que possível, com maior atenção aos pacientes hipertensos e diabéticos.

ABSTRACT Objective To evaluate the indirect ophthalmoscopy performed in ophthalmologic consultations, analyzing the prevalence of the study and comparing them with the reason for the consultation. Methods Cross-sectional study, with data found during the indirect ophthalmoscopy exam of inpatients or in emergency room care. The data analyzed for each patient was sex, the requested medical age, the reason for the consultation and the funduscopic examination findings. Results One hundred and four patients were evaluated and 43.27% of patients with a prevalence of changes in the exam. The most requested reasons for requesting ophthalmologic evaluation were trauma (16.35%) and neurological alterations (15.38%). The most prevalent finding was papillary edema, representing 17.3% of the general estimates. Other very prevalent findings were diabetic and hypertensive retinopathies, both with 11.53% in the general assessment, but with 83.3% and 53.84% prevalence in patients whose reasons for consultation were decompensated DM and hypertensive crisis, respectively. Conclusions Papillary edema and diabetic and hypertensive retinopathies were the most prevalent alterations, which demonstrates the importance of multidisciplinary care whenever possible, with greater attention to hypertensive and diabetic patients.

Automated Classification of Inherited Retinal Diseases in Optical Coherence Tomography Images Using Few-shot Learning / 生物医学与环境科学（英文）

OBJECTIVE@#To develop a few-shot learning (FSL) approach for classifying optical coherence tomography (OCT) images in patients with inherited retinal disorders (IRDs).@*METHODS@#In this study, an FSL model based on a student-teacher learning framework was designed to classify images. 2,317 images from 189 participants were included. Of these, 1,126 images revealed IRDs, 533 were normal samples, and 658 were control samples.@*RESULTS@#The FSL model achieved a total accuracy of 0.974-0.983, total sensitivity of 0.934-0.957, total specificity of 0.984-0.990, and total F1 score of 0.935-0.957, which were superior to the total accuracy of the baseline model of 0.943-0.954, total sensitivity of 0.866-0.886, total specificity of 0.962-0.971, and total F1 score of 0.859-0.885. The performance of most subclassifications also exhibited advantages. Moreover, the FSL model had a higher area under curves (AUC) of the receiver operating characteristic (ROC) curves in most subclassifications.@*CONCLUSION@#This study demonstrates the effective use of the FSL model for the classification of OCT images from patients with IRDs, normal, and control participants with a smaller volume of data. The general principle and similar network architectures can also be applied to other retinal diseases with a low prevalence.

Clinical features of acute macular neuroretinopathy induced by Omicron / 国际眼科杂志(Guoji Yanke Zazhi)

AIM: To observe the clinical features of acute macular neuroretinopathy(AMN)induced by Omicron.METHODS: A retrospective study. A total of 9 patients(18 eyes)diagnosed with AMN from December 2022 to January 2023 in the Hospital of Chengdu University of Traditional Chinese Medicine were included. Patients underwent spectral-domain optical coherence tomography(SD-OCT), fundus fluorescein angiography(FFA), fundus photography, autofluorescence(AF), infrared reflectance(IR), optical coherence tomography angiography(OCTA)and multicolor, etc. Furthermore, they were followed up for 1～3mo and observed the prognosis.RESULTS: The initial symptom of the Omicron-induced AMN was the sudden onset of central/paracentral scotoma in the eyes with or without impaired vision and metamorphopsia, and the scotoma could persist for at least 3mo. The image features of AMN are as follows. First, the SD-OCT examination showed the rupture of outer retinal layers, scattered hyperreflective lesions, and atrophy of outer retinal layers. In severe cases, hyperreflective lesions were seen in the inner nuclear layer(INL)or with microcystic cavities under the retinal pigment epithelium(RPE). Second, the OCTA examination demonstrated the decreased blood flow density of the deep capillary plexus(DCP)of the macula. Third, the IR examination showed the weak reflection of lesion areas. Fourth, the fundus photography demonstrated the localized brown wedge-shaped lesion.CONCLUSIONS: The Omicron-induced AMN is mostly found in young females, and the characteristic manifestation of fundus is damage to the outer retinal layers. The extent of fundus lesions is related to the systemic inflammatory response and ocular microcirculatory changes after infection. The multimodal fundus image examination and a history of Omicron infection are helpful to diagnose the Omicron-induced AMN.

Artificial intelligence in ophthalmology / 国际眼科杂志(Guoji Yanke Zazhi)

Artificial Intelligence(AI)refers to computer simulation of human mental reasoning, decision making, and behavior. AI has been implemented in various medical fields. AI application has shown tremendous potentials in ophthalmology, as it relies heavily on ocular imaging and visual data. The overall potential of AI includes screening, diagnostic grading, automated detection of disease activity, recurrences, quantification of therapeutic effects, and identification of relevant targets for novel therapeutic approaches, enabling personalized health care and large-scale management. This review briefly introduces and comments the main AI applications in ophthalmology, including diabetic retinopathy, age-related macular degeneration, glaucoma, cataract, telehealth, and related topics. The review also points out the opportunities and challenges in AI implement in clinical practice, including clinical and technical challenges, data quality, explainability of the algorithm results, medicolegal and ethical issues.

The progress of the gene editing therapy of inherited retinal diseases based on CRISPR/Cas9 / 中华眼底病杂志

Inherited retinal diseases (IRDs) are the major cause of refractory blinding eye diseases, and gene replacement therapy has already made preliminary progress in the treatment of IRDs. For IRDs that cannot be treated by gene replacement therapy, gene editing provides an alternative therapeutic method. Strategies like disruption of pathogenic variants with or without gene augmentation therapy and precise repair of pathogenic variants can be applied for IRDs with various inheritance patterns and pathogenic variants. In animal models of retinitis pigmentosa, Usher syndrome, Leber congenital amaurosis, cone rod cell dystrophy, and other disorders, CRISPR/Cas9, base editing, and prime editing showed the potential to edit pathogenic variations in vivo, indicating a promising future for gene editing therapy of IRDs.

Reinforce revealing missing heritability in the gene of inherited retinal diseases / 中华眼底病杂志

Inherited retinal diseases (IRD) are a group of genetic disorders with high genetic and clinical heterogeneity. Genetic diagnosis has become one essential method for patients with IRD in their clinical management. So far, about 30% of the patients with IRD cannot get molecular diagnosis (no pathogenic variant detected or only mono-allele variant identified in AR genes) using target or whole exome sequencing. Most missing heritability or variants for these patients were variants located in no-coding regions (deep intron or promoter regions) and structure variants of the known IRD genes. It is more challenge to reveal this kind of missing variants, which need using whole genome sequencing combined with other cellular or molecular assays.

The research status and progress of ocular manifestations related to acute coronary syndromes / 中华眼底病杂志

Acute coronary syndromes (ACS) are clinical syndromes caused by the instability or rupture of coronary atheromatous plaques. The development and treatment of ACS are closely related to some ocular manifestations. Hypertensive retinopathy, retinal arteriovenous occlusion, diabetes retinopathy, and age-related macular degeneration are associated with a high risk of ACS. Retinal vascular occlusion may be a potential postoperative complication of the percutaneous coronary intervention for ACS. Ocular parameters such as the retinal vascular diameter and density, the blood flow velocity of the ophthalmic artery, and the choroidal thickness are expected to be markers for assessing or predicting the risk of ACS, which are of important value for the prevention of cardiovascular events such as ACS.

Influence of high myopia during pregnancy on obstetric management and its research progress / 中华围产医学杂志

Structure of maternal retina and choroid would change reversibly with the changes in metabolism, hormone levels, and the hemodynamic state during pregnancy. However, high myopia could further aggravate the impact on the ocular lesions of pregnant women. This article describes the clinical characteristics of pregnant women with high myopia, summarizes the potential risk factors affecting adverse outcomes of high myopia during pregnancy, and reviews the current comprehensive obstetric and ophthalmic management strategies to guide the clinical practice.

Efficacy of conbercept in the treatment of polypoidal choroidal vasculopathy based on EDI-OCT and OCTA / 中国医师杂志

Objective:To evaluate the changes of retinal thickness, choroid thickness and choroid vascular polypoid lesions (polyps) before and after the treatment of conbercept in polypoidal choroidal vasculopathy (PCV) with conbercept based on enhanced-depth imaging optical coherence tomography (EDI-OCT) and OCT angiography (OCTA).Methods:Twenty patients with PCV admitted to the ophthalmology department of the Affiliated Hospital of Traditional Chinese Medicine of Xinjiang Medical University from January 2019 to December 2020 (who had not received intravitreous injection before) were selected and given intravitreous injection of conbercept with 3+ pro re nata (PRN) treatment. The changes of visual acuity, intraocular pressure, central macular thickness (CMT), subfoveal choroidal thickness (SFCT), peripapillary choroid thickness (PCT), polyps height, and maximum cross-sectional area of polyps were observed before and after treatment.Results:There were significant difference in the best corrected visual acuity (BCVA), CMT, SFCT, PCT, polyps height and maximum polyps cross-sectional area before and after treatment in 20 patients (all P<0.05). BCVA was significantly improved at 1 week and 1 month after treatment (all P<0.05), and still improved at 6 months after treatment, but the difference was not statistically significant compared with 3 months after treatment ( P>0.05), and slightly fluctuated at 6 to 12 months after treatment, but basically stable. CMT, SFCT and PCT decreased significantly after 3 months of treatment, and were basically stable from 6 to 12 months after treatment. One month after treatment, polyps height was (251.30±57.49)μm, with a decrease of 11.3 μm; the polyps height decreased at 3, 6 and 12 months after treatment, and the difference was statistically significant (all P<0.05). The maximum cross-sectional area of polyps at 3 and 12 months after treatment was (2.10±0.44)μm 2 and (1.98±0.44)μm 2, respectively, with a certain degree of decrease, and the difference was statistically significant (all P<0.05). Conclusions:Intraocular injection of conbercept can effectively reduce CMT, SFCT, PCT, polyps height, maximum cross-sectional area of polyps and increase BCVA in PCV patients 3 months after treatment. EDI-OCT and OCTA were used to quantitatively detect the changes of PCV indexes and observe the curative effect and prognosis.

Seizure occurring with retinal laser therapy: a report of the first case with frequency-doubled Nd-YAG / Convulsão durante laserterapia retiniana: relato do primeiro caso com o Nd-YAG de frequência dobrada

ABSTRACT Laser photocoagulation is a safe method for the treatment of retinal disorders. We present a case of a 21-year-old woman with high myopia, retinal detachment in the right eye, and bilateral lattice degeneration. She underwent surgical repair in the right eye followed by bilateral retinal laser therapy. During laser photocoagulation of the left eye, she experienced a generalized tonic-clonic seizure for the first time in her life. She had a positive family history of epilepsy. Neurological examination and brain magnetic resonance imaging findings were normal, but an electroencephalogram revealed epileptogenic discharges, more frequent during photostimulation. She avoided flickering lights during the 2-year follow-up, without seizure recurrence. Approximately 5% of patients with epilepsy have photosensitive epilepsy, of whom a considerable proportion will experience seizures only during exposition to flashing lights. Laser photocoagulation was already successfully employed in an animal model of photosensitive epilepsy. Personal or family history of photosensitivity warrants a neurological consultation before retinal treatment with laser therapy.

RESUMO Fotocoagulação a laser é método seguro para tratamento de retinopatias. Apresentamos o caso de uma mulher de 21 anos com alta miopia e degeneração lattice bilateral que sofreu descolamento de retina no olho direito e foi submetida a tratamento cirúrgico e ulterior laserterapia. Durante a fotocoagulação no olho esquerdo, ela teve uma convulsão tônico-clônica generalizada, a primeira em sua vida. Havia história familiar de epilepsia. O exame neurológico e a ressonância magnética de en céfalo foram normais, mas o electroencefalograma revelou descargas epileptogênicas, mais frequentes durante a fotoesti mulação. Ela evitou luzes piscantes durante os 2 anos subsequentes, sem recorrência de convulsões. Cerca de 5% dos pacientes com epilepsia têm fotossensibilidade. Proporção considerável deles terá convulsões somente durante exposição à luz piscante. Fotocoagulação a laser já foi empregada como modelo animal de sucesso para epilepsia fotossensível. Presença de fotossensibilidade na história pessoal ou familiar deve merecer avaliação neurológica antes do tratamento retiniano.

A bibliometric analysis of research on genetic retinal diseases done in India

Purpose: To conduct a bibliometric analysis of research on genetic retinal diseases (GRD) done in India published from 2011 to 2020 in peer?reviewed journals, and assess the productivity, trends in journal choice, publication types, research funding, and collaborative research. Methods: We searched PubMed for articles indicating both vision?related content and author affiliation with an Indian research center. We identified research collaborations and classified articles as reporting basic science, clinical science, or clinically descriptive research. Impact factors were determined from Journal Citation Reports for 2015. Results: The total number of published articles that were retrieved from 2011 to 2021 was 341. During the 10 years of study, the annual output of research articles has nearly doubled, that is, from 21 in 2011 to 44 in 2021. A total of 298 (87%) articles were published in international journals, and 149 (42%) articles in vision?related journals had an impact factor. A total of 224 (65%) articles came from six major eye hospitals. Clinical science articles were most frequently (86%) published, whereas basic science was the least (14%). The diseases on which the maximum and the minimum number of articles were published were retinoblastoma (n = 82,24%) and Stargardt disease (n = 3, 0.9%), respectively. Conclusion: This bibliometric study provides a broad view of the current status and trends in the research on GRD done in India and may help clinicians, researchers, and policymakers to better understand this research field and predict its dynamic directions.

Assessing contrast sensitivity change in retinal diseases with use of yellow-amber NoIR glasses

Purpose: The purpose of this study was to assess change of contrast sensitivity (CS) in subjects having retinal diseases with yellow?amber no infrared (NoIR) glasses used as low vision aid (LVA). Methods: We examined CS in 82 low vision (LV) subjects having retinal diseases with Pelli Robson Chart at 1 m distance before and after wearing yellow?amber NoIR glasses. We also found type of retinal affection and macular optical coherence tomography (OCT) features. Results: The distance and near best?corrected visual acuity (BCVA) was, respectively, 0.68 ± 0.17 (median = 0.70) and 0.72 ± 0.25 (median = 0.70) logmar units. The pre?LVA CS was 0.52 ± 0.29 (median = 0.3) and post? LVA was 0.52 ± 0.28 (median = 0.45) logunits (mean reduction = ?0.002 ± 0.24; Median reduction = 0; P = 0.909). The pre?LVA and post?LVA CS showed a negative correlation with logmar distance BCVA [r = ?0.090; P = 0.317 and r = ?0.152; P = 0.090 respectively]. The pre?LVA and post?LVA CS showed a negative correlation with logmar near BCVA [r = ?0.114; P = 0.207 and r = ?0.054; P = 0.549 respectively]. The CS did not improve in subjects having macular degeneration, pathological myopia, hereditary maculopathy, and diabetic retinopathy. The macular OCT features like fluid, exudates, scars, drusens, traction, and hole did not significantly influence CS both at pre?LVA and post?LVA stage. Conclusion: This is the first study with yellow?amber NoIR glasses which blocks “both ultraviolet and infrared light.” The subjects having macular degeneration, pathological myopia, hereditary maculopathy, and diabetic retinopathy did not improve in CS with filters. The correlation values showed that filters may improve CS in subjects having good baseline BCVA.

Research progress of circular RNA in ocular fundus diseases / 中华眼底病杂志

Circular RNA (circRNA) is a new group of endogenous non-coding RNAs produced by back-splicing, which has multiple molecular functions such as acting as microRNA sponges, regulators of transcription and splicing, adaptors for protein-protein interaction. Recent studies have shown that circRNA play an essential role in development and progression of retinal microvascular dysfunction, diabetic retinopathy, age-related macular degeneration, proliferative vitreoretinopathy, eye diseases caused by hyperhomocysteine and ocular malignancy. In pathological conditions, the differential expression of circRNA alters the transcription and translation of corresponding genes, thus changing the activity and function of cells. CircRNA may become a new marker and prognostic indicator of fundus diseases, and its targeted intervention may also become a potential treatment for fundus diseases.

The ocular clinical features and treatment of 18 cases young infants with incontinentia pigmenti / 中华眼底病杂志

Objective:To observe the ocular clinical features and efficacy of young infants with incontinentia pigmenti (IP).Methods:A retrospective study. Clinical data of 18 young infants with IP aged 0-3 months in the Department of Ophthalmology of Henan Children's Hospital from October 2017 to February 2019 were collected in this study. All patients were underwent fundus examination under topical anesthesia or general anesthesia. Among them, 9 cases were underwent genetic testing. Patients were determined whether to treated with retinal laser photocoagulation (LIO) or intravitreal conbercept (IVC, 0.25 mg/0.025 ml) according to the condition of eyes. The followed-up time ranged from 4months to 43 months. The ocular clinical features and treatment were observed.Results:There were 1 male and 17 females of the 18 patients. The age of first visit were 1.2±1.0 months (2 d-3 months). All cases had typical skin lesions, 4 cases had neurological symptoms, 10 cases had tooth abnormalities, and 4 cases had cicatricial alopecia. Among the 9 cases that were underwent genetic testing, 5 cases were deleted in exons 4-10 of the IKBKG gene and 1 case were a heterozygous mutation c.1124delT in exon 9 of the IKBKG gene. Among the 36 eyes, 21 eyes of 13 cases with incontinentia pigmenti-associated ocular diseases were all retinopathy (58.3%,21/36). Retinopathy of 9 cases were asymmetrical (69.2%,9/13). Among the 21 eyes, 3 eyes were simple retinal pigment abnormalities (14.3%,3/21) and 18 cases had retinal vascular lesion (85.7%, 18/21). Among the 36 eyes, 8 eyes were treated; 4 eyes were underwent LIO; 3 eyes were treated with IVC; 1 eye was treated with LIO combined with IVC. They were all improved significantly after the operation without serious complications. 1 eye with retinal detachment did not undergo surgical treatment due to guardian reasons. Perceptual exotropia and eyeball atrophy was found during the follow-up. Conclusions:The onset of IP-related ocular anomalies is early. The early anomalies were mainly retinal vascular abnormalities. Treatment in early time is effective.