Objective : To identify possible associated genetic variants and characterise the clinical presentation of isolated ectopia lentis (IEL) . Methods : Forty - eight members with 5 generations of an IEL family were enrolled in this study. Peripheral blood samples of all members were collected , and clinical manifestations were observed through physical examination and routine ophthalmological examination. Whole⁃exome sequencing (WES) was performed for two patients to identify disease⁃causing variants. The target variants were verified by Sanger sequencing in family members and 200 normal controls. Then , candidate variants were verified using Sanger sequencing in family members and 200 healthy controls. SIFT , PolyPhen and MutationTester were used to predict the protein function. Results : A total of 13 IEL patients in this family which inherited in an autosomal dominant pattern. The mean age at disease onset was 51. 5 years. The main clinical phenotype of this ICE was characterised by ectopia lentis which anterior inclinated to the anterior chamber. As the anterior chamber became shallow , and the angle of the chamber became narrow , and eventually resulted in the secondary glaucoma. A heterozygous missense variantin the fibrillin gene⁃1 (FBN1) gene (c. 3463G > A) was identified by WES , which was present in all patients but was absent in 200 healthy controls. SIFT , PolyPhen and MutationTester predicted that the variant affected protein function. Conclusion This IEL family is characterized by secondary glaucoma as the first symptom which is caused by ectopia lens with inclination. The c. 3463G > A of FBN1 gene may be the pathogenic mutation leading to IEL in this family.

Objective To identify possible associated genetic variants and characterise the clinical presentation of isolated ectopia lentis (IEL).Methods Forty-eight members with 5 generations of an IEL family were enrolled in this study.Peripheral blood samples of all members were collected, and clinical manifestations were observed through physical examination and routine ophthalmological examination.Whole-exome sequencing (WES) was per-formed for two patients to identify disease-causing variants.The target variants were verified by Sanger sequencing in family members and 200 normal controls.Then, candidate variants were verified using Sanger sequencing in family members and 200 healthy controls.SIFT, PolyPhen and MutationTester were used to predict the protein function.Results A total of 13 IEL patients in this family which inherited in an autosomal dominant pattern.The mean age at disease onset was 51.5 years.The main clinical phenotype of this ICE was characterised by ectopia lentis which anterior inclinated to the anterior chamber.As the anterior chamber became shallow, and the angle of the chamber became narrow, and eventually resulted in the secondary glaucoma.A heterozygous missense variant in the fibrillin gene-1 (FBN1) gene (c.3463G>A) was identified by WES, which was present in all patients but was absent in 200 healthy controls.SIFT, PolyPhen and MutationTester predicted that the variant affected protein function.Conclusion This IEL family is characterized by secondary glaucoma as the first symptom which is caused by ectopia lens with inclination.The c.3463G>A of FBN1 gene may be the pathogenic mutation leading to IEL in this family.

Objective To identify possible associated genetic variants and characterise the clinical presentation of isolated ectopia lentis (IEL).Methods Forty-eight members with 5 generations of an IEL family were enrolled in this study.Peripheral blood samples of all members were collected, and clinical manifestations were observed through physical examination and routine ophthalmological examination.Whole-exome sequencing (WES) was per-formed for two patients to identify disease-causing variants.The target variants were verified by Sanger sequencing in family members and 200 normal controls.Then, candidate variants were verified using Sanger sequencing in family members and 200 healthy controls.SIFT, PolyPhen and MutationTester were used to predict the protein function.Results A total of 13 IEL patients in this family which inherited in an autosomal dominant pattern.The mean age at disease onset was 51.5 years.The main clinical phenotype of this ICE was characterised by ectopia lentis which anterior inclinated to the anterior chamber.As the anterior chamber became shallow, and the angle of the chamber became narrow, and eventually resulted in the secondary glaucoma.A heterozygous missense variant in the fibrillin gene-1 (FBN1) gene (c.3463G>A) was identified by WES, which was present in all patients but was absent in 200 healthy controls.SIFT, PolyPhen and MutationTester predicted that the variant affected protein function.Conclusion This IEL family is characterized by secondary glaucoma as the first symptom which is caused by ectopia lens with inclination.The c.3463G>A of FBN1 gene may be the pathogenic mutation leading to IEL in this family.

Objective To identify possible associated genetic variants and characterise the clinical presentation of isolated ectopia lentis (IEL).Methods Forty-eight members with 5 generations of an IEL family were enrolled in this study.Peripheral blood samples of all members were collected, and clinical manifestations were observed through physical examination and routine ophthalmological examination.Whole-exome sequencing (WES) was per-formed for two patients to identify disease-causing variants.The target variants were verified by Sanger sequencing in family members and 200 normal controls.Then, candidate variants were verified using Sanger sequencing in family members and 200 healthy controls.SIFT, PolyPhen and MutationTester were used to predict the protein function.Results A total of 13 IEL patients in this family which inherited in an autosomal dominant pattern.The mean age at disease onset was 51.5 years.The main clinical phenotype of this ICE was characterised by ectopia lentis which anterior inclinated to the anterior chamber.As the anterior chamber became shallow, and the angle of the chamber became narrow, and eventually resulted in the secondary glaucoma.A heterozygous missense variant in the fibrillin gene-1 (FBN1) gene (c.3463G>A) was identified by WES, which was present in all patients but was absent in 200 healthy controls.SIFT, PolyPhen and MutationTester predicted that the variant affected protein function.Conclusion This IEL family is characterized by secondary glaucoma as the first symptom which is caused by ectopia lens with inclination.The c.3463G>A of FBN1 gene may be the pathogenic mutation leading to IEL in this family.

Objective To identify possible associated genetic variants and characterise the clinical presentation of isolated ectopia lentis (IEL).Methods Forty-eight members with 5 generations of an IEL family were enrolled in this study.Peripheral blood samples of all members were collected, and clinical manifestations were observed through physical examination and routine ophthalmological examination.Whole-exome sequencing (WES) was per-formed for two patients to identify disease-causing variants.The target variants were verified by Sanger sequencing in family members and 200 normal controls.Then, candidate variants were verified using Sanger sequencing in family members and 200 healthy controls.SIFT, PolyPhen and MutationTester were used to predict the protein function.Results A total of 13 IEL patients in this family which inherited in an autosomal dominant pattern.The mean age at disease onset was 51.5 years.The main clinical phenotype of this ICE was characterised by ectopia lentis which anterior inclinated to the anterior chamber.As the anterior chamber became shallow, and the angle of the chamber became narrow, and eventually resulted in the secondary glaucoma.A heterozygous missense variant in the fibrillin gene-1 (FBN1) gene (c.3463G>A) was identified by WES, which was present in all patients but was absent in 200 healthy controls.SIFT, PolyPhen and MutationTester predicted that the variant affected protein function.Conclusion This IEL family is characterized by secondary glaucoma as the first symptom which is caused by ectopia lens with inclination.The c.3463G>A of FBN1 gene may be the pathogenic mutation leading to IEL in this family.

Objective To identify possible associated genetic variants and characterise the clinical presentation of isolated ectopia lentis (IEL).Methods Forty-eight members with 5 generations of an IEL family were enrolled in this study.Peripheral blood samples of all members were collected, and clinical manifestations were observed through physical examination and routine ophthalmological examination.Whole-exome sequencing (WES) was per-formed for two patients to identify disease-causing variants.The target variants were verified by Sanger sequencing in family members and 200 normal controls.Then, candidate variants were verified using Sanger sequencing in family members and 200 healthy controls.SIFT, PolyPhen and MutationTester were used to predict the protein function.Results A total of 13 IEL patients in this family which inherited in an autosomal dominant pattern.The mean age at disease onset was 51.5 years.The main clinical phenotype of this ICE was characterised by ectopia lentis which anterior inclinated to the anterior chamber.As the anterior chamber became shallow, and the angle of the chamber became narrow, and eventually resulted in the secondary glaucoma.A heterozygous missense variant in the fibrillin gene-1 (FBN1) gene (c.3463G>A) was identified by WES, which was present in all patients but was absent in 200 healthy controls.SIFT, PolyPhen and MutationTester predicted that the variant affected protein function.Conclusion This IEL family is characterized by secondary glaucoma as the first symptom which is caused by ectopia lens with inclination.The c.3463G>A of FBN1 gene may be the pathogenic mutation leading to IEL in this family.

Objective To identify possible associated genetic variants and characterise the clinical presentation of isolated ectopia lentis (IEL).Methods Forty-eight members with 5 generations of an IEL family were enrolled in this study.Peripheral blood samples of all members were collected, and clinical manifestations were observed through physical examination and routine ophthalmological examination.Whole-exome sequencing (WES) was per-formed for two patients to identify disease-causing variants.The target variants were verified by Sanger sequencing in family members and 200 normal controls.Then, candidate variants were verified using Sanger sequencing in family members and 200 healthy controls.SIFT, PolyPhen and MutationTester were used to predict the protein function.Results A total of 13 IEL patients in this family which inherited in an autosomal dominant pattern.The mean age at disease onset was 51.5 years.The main clinical phenotype of this ICE was characterised by ectopia lentis which anterior inclinated to the anterior chamber.As the anterior chamber became shallow, and the angle of the chamber became narrow, and eventually resulted in the secondary glaucoma.A heterozygous missense variant in the fibrillin gene-1 (FBN1) gene (c.3463G>A) was identified by WES, which was present in all patients but was absent in 200 healthy controls.SIFT, PolyPhen and MutationTester predicted that the variant affected protein function.Conclusion This IEL family is characterized by secondary glaucoma as the first symptom which is caused by ectopia lens with inclination.The c.3463G>A of FBN1 gene may be the pathogenic mutation leading to IEL in this family.

Objective To identify possible associated genetic variants and characterise the clinical presentation of isolated ectopia lentis (IEL).Methods Forty-eight members with 5 generations of an IEL family were enrolled in this study.Peripheral blood samples of all members were collected, and clinical manifestations were observed through physical examination and routine ophthalmological examination.Whole-exome sequencing (WES) was per-formed for two patients to identify disease-causing variants.The target variants were verified by Sanger sequencing in family members and 200 normal controls.Then, candidate variants were verified using Sanger sequencing in family members and 200 healthy controls.SIFT, PolyPhen and MutationTester were used to predict the protein function.Results A total of 13 IEL patients in this family which inherited in an autosomal dominant pattern.The mean age at disease onset was 51.5 years.The main clinical phenotype of this ICE was characterised by ectopia lentis which anterior inclinated to the anterior chamber.As the anterior chamber became shallow, and the angle of the chamber became narrow, and eventually resulted in the secondary glaucoma.A heterozygous missense variant in the fibrillin gene-1 (FBN1) gene (c.3463G>A) was identified by WES, which was present in all patients but was absent in 200 healthy controls.SIFT, PolyPhen and MutationTester predicted that the variant affected protein function.Conclusion This IEL family is characterized by secondary glaucoma as the first symptom which is caused by ectopia lens with inclination.The c.3463G>A of FBN1 gene may be the pathogenic mutation leading to IEL in this family.

Objective To identify possible associated genetic variants and characterise the clinical presentation of isolated ectopia lentis (IEL).Methods Forty-eight members with 5 generations of an IEL family were enrolled in this study.Peripheral blood samples of all members were collected, and clinical manifestations were observed through physical examination and routine ophthalmological examination.Whole-exome sequencing (WES) was per-formed for two patients to identify disease-causing variants.The target variants were verified by Sanger sequencing in family members and 200 normal controls.Then, candidate variants were verified using Sanger sequencing in family members and 200 healthy controls.SIFT, PolyPhen and MutationTester were used to predict the protein function.Results A total of 13 IEL patients in this family which inherited in an autosomal dominant pattern.The mean age at disease onset was 51.5 years.The main clinical phenotype of this ICE was characterised by ectopia lentis which anterior inclinated to the anterior chamber.As the anterior chamber became shallow, and the angle of the chamber became narrow, and eventually resulted in the secondary glaucoma.A heterozygous missense variant in the fibrillin gene-1 (FBN1) gene (c.3463G>A) was identified by WES, which was present in all patients but was absent in 200 healthy controls.SIFT, PolyPhen and MutationTester predicted that the variant affected protein function.Conclusion This IEL family is characterized by secondary glaucoma as the first symptom which is caused by ectopia lens with inclination.The c.3463G>A of FBN1 gene may be the pathogenic mutation leading to IEL in this family.

Temporomandibular joint (TMJ) diseases are common clinical conditions. The number of patients with TMJ diseases is large, and the etiology, epidemiology, disease spectrum, and treatment of the disease remain controversial and unknown. To understand and master the current situation of the occurrence, development and prevention of TMJ diseases, as well as to identify the patterns in etiology, incidence, drug sensitivity, and prognosis is crucial for alleviating patients′suffering.This will facilitate in-depth medical research, effective disease prevention measures, and the formulation of corresponding health policies. Cohort construction and research has an irreplaceable role in precise disease prevention and significant improvement in diagnosis and treatment levels. Large-scale cohort studies are needed to explore the relationship between potential risk factors and outcomes of TMJ diseases, and to observe disease prognoses through long-term follw-ups. The consensus aims to establish a standard conceptual frame work for a cohort study on patients with TMJ disease while providing ideas for cohort data standards to this condition. TMJ disease cohort data consists of both common data standards applicable to all specific disease cohorts as well as disease-specific data standards. Common data were available for each specific disease cohort. By integrating different cohort research resources, standard problems or study variables can be unified. Long-term follow-up can be performed using consistent definitions and criteria across different projects for better core data collection. It is hoped that this consensus will be facilitate the development cohort studies of TMJ diseases.