A 2-year-old girl was diagnosed as Weill-Marchesani syndrome with typical systemic features of short stature,short and stubby hands and feet,language disorders and mental retardation.He developed bilateral angle closu...A 2-year-old girl was diagnosed as Weill-Marchesani syndrome with typical systemic features of short stature,short and stubby hands and feet,language disorders and mental retardation.He developed bilateral angle closure glaucoma,ectopia lentis and suffered visual loss from the ocular features of Weill-Marchesani syndrome.The child was successfully treated by combined CO_(2) laser-assisted sclerectomy surgery and trabeculectomy.展开更多
AIM: To explore the phenotype and genotype of WeillMarchesani syndrome(WMS) in a Chinese family and review related literature.METHODS: Three WMS patients and other unaffected individuals in this family with a history ...AIM: To explore the phenotype and genotype of WeillMarchesani syndrome(WMS) in a Chinese family and review related literature.METHODS: Three WMS patients and other unaffected individuals in this family with a history of consanguineous marriage were included in this study. Medical history, comprehensive ophthalmic examinations, and systemic evaluation, as well as whole exome and Sanger sequencing of specific genomic regions, were performed. RESULTS: The three affected siblings presented with short stature, brachydactyly and ocular disorders, including very shallow anterior chamber, high myopia, microspherophakia lens subluxation with stretched zonules and glaucoma. Genetic analysis verified a homozygous missense mutation(c.2983C>T: p. Arg995Trp) in ADAMTS17,which was correlated with the diseases in this family, indicating an autosomal recessive inherited manner of WMS. This review aims to summarize the mutation sites of WMS genes, so as to prevent the disease and better guide clinical diagnosis and treatment.CONCLUSION: A novel homozygous missense variant of ADAMTS17 is identified in a WMS family with a history of consanguineous marriage. Our study expands the range of mutations associated with WMS and deepens our understanding of pathology in disease associated with ADAMTS17 variants.展开更多
目的探讨Weill-Marchesani综合征继发青光眼的手术治疗方法。设计回顾性小样本病例系列。研究对象2009年6月至2010年1月在北京同仁医院住院手术治疗的年龄13~32岁的Weill-Marchesani综合征继发青光眼晚期患者3例。方法 2例为晶状体半脱...目的探讨Weill-Marchesani综合征继发青光眼的手术治疗方法。设计回顾性小样本病例系列。研究对象2009年6月至2010年1月在北京同仁医院住院手术治疗的年龄13~32岁的Weill-Marchesani综合征继发青光眼晚期患者3例。方法 2例为晶状体半脱位继发青光眼,采取晶状体及前部玻璃体切除术联合Ahmed阀植入术或直视下眼内睫状体光凝术。1例为人工晶状体（IOL）眼继发闭角型青光眼,采取Ahmed阀植入术联合前部玻璃体切除术。主要指标眼压。结果术后随访4~6个月。采取Ahmed阀植入术联合手术的2例患者不用药物眼压控制在21 mm Hg以下;采取眼内睫状体光凝术的1例患者局部用2种降眼压药物眼压稳定控制在21 mm Hg以下。1例术后早期发生严重脉络膜脱离,1例术后早期出现恶性青光眼,经保守治疗恢复。结论本文有限的病例结果提示,Weill-Marchesani综合征继发青光眼采用晶状体及前部玻璃体切除术联合青光眼引流阀植入术或眼内睫状体光凝术可有效地控制眼压。展开更多
Purpose: Patients with angle-closure glaucoma and high myopia are uncommon. We evaluated the clinical characteristics of all patients with angle closure and high myopia in our database and propose possible mechanisms ...Purpose: Patients with angle-closure glaucoma and high myopia are uncommon. We evaluated the clinical characteristics of all patients with angle closure and high myopia in our database and propose possible mechanisms for angle closure in these atypical patients. Design: Retrospective noncomparative case series. Participants: Our database of 17938 patients was searched for patients with myopia of spherical equivalent of more than-6.0 diopters and angle closure. Data recorded included age at time of initial consultation,gender,slit-lamp examination results,gonioscopy results,biometric parameters,ultrasound biomicroscopy results (from 1993 onward),clinical diagnosis,and therapy. Results: Twenty patients (11 females,9 males) were identified. Mean age at the time of consultation was 52.9± 19.3 years. Angle-closure diagnoses included primary pupillary block (9 patients),pupillary block in an eye with keratoconus (1 patient),pupillary block secondary to a pupillary membrane associated with retinopathy of prematurity (1 patient),plateau iris configuration and syndrome (3 patients),phacomorphic glaucoma in Weill-Marchesani syndrome (2 patients),malignant glaucoma secondary to a scleral buckle (2 patients),miotic-induced angle closure (1 patient),and Marfan syndrome (1 patient). Conclusions: Angle closure can occur in eyes with high myopia. Causes of angle closure other than relative pupillary block are more common than in the general angle-closure glaucoma population. Careful gonioscopy accompanied by biometry and ultrasound biomicroscopy can lead to the correct diagnosis and individualized management in these eyes.展开更多
文摘A 2-year-old girl was diagnosed as Weill-Marchesani syndrome with typical systemic features of short stature,short and stubby hands and feet,language disorders and mental retardation.He developed bilateral angle closure glaucoma,ectopia lentis and suffered visual loss from the ocular features of Weill-Marchesani syndrome.The child was successfully treated by combined CO_(2) laser-assisted sclerectomy surgery and trabeculectomy.
基金Supported by The Cadre Health Research Program of the Sichuan Province (No.2023-119)Sichuan Science and Technology Program (No.2021YFS0213)。
文摘AIM: To explore the phenotype and genotype of WeillMarchesani syndrome(WMS) in a Chinese family and review related literature.METHODS: Three WMS patients and other unaffected individuals in this family with a history of consanguineous marriage were included in this study. Medical history, comprehensive ophthalmic examinations, and systemic evaluation, as well as whole exome and Sanger sequencing of specific genomic regions, were performed. RESULTS: The three affected siblings presented with short stature, brachydactyly and ocular disorders, including very shallow anterior chamber, high myopia, microspherophakia lens subluxation with stretched zonules and glaucoma. Genetic analysis verified a homozygous missense mutation(c.2983C>T: p. Arg995Trp) in ADAMTS17,which was correlated with the diseases in this family, indicating an autosomal recessive inherited manner of WMS. This review aims to summarize the mutation sites of WMS genes, so as to prevent the disease and better guide clinical diagnosis and treatment.CONCLUSION: A novel homozygous missense variant of ADAMTS17 is identified in a WMS family with a history of consanguineous marriage. Our study expands the range of mutations associated with WMS and deepens our understanding of pathology in disease associated with ADAMTS17 variants.
文摘目的探讨Weill-Marchesani综合征继发青光眼的手术治疗方法。设计回顾性小样本病例系列。研究对象2009年6月至2010年1月在北京同仁医院住院手术治疗的年龄13~32岁的Weill-Marchesani综合征继发青光眼晚期患者3例。方法 2例为晶状体半脱位继发青光眼,采取晶状体及前部玻璃体切除术联合Ahmed阀植入术或直视下眼内睫状体光凝术。1例为人工晶状体（IOL）眼继发闭角型青光眼,采取Ahmed阀植入术联合前部玻璃体切除术。主要指标眼压。结果术后随访4~6个月。采取Ahmed阀植入术联合手术的2例患者不用药物眼压控制在21 mm Hg以下;采取眼内睫状体光凝术的1例患者局部用2种降眼压药物眼压稳定控制在21 mm Hg以下。1例术后早期发生严重脉络膜脱离,1例术后早期出现恶性青光眼,经保守治疗恢复。结论本文有限的病例结果提示,Weill-Marchesani综合征继发青光眼采用晶状体及前部玻璃体切除术联合青光眼引流阀植入术或眼内睫状体光凝术可有效地控制眼压。
文摘Purpose: Patients with angle-closure glaucoma and high myopia are uncommon. We evaluated the clinical characteristics of all patients with angle closure and high myopia in our database and propose possible mechanisms for angle closure in these atypical patients. Design: Retrospective noncomparative case series. Participants: Our database of 17938 patients was searched for patients with myopia of spherical equivalent of more than-6.0 diopters and angle closure. Data recorded included age at time of initial consultation,gender,slit-lamp examination results,gonioscopy results,biometric parameters,ultrasound biomicroscopy results (from 1993 onward),clinical diagnosis,and therapy. Results: Twenty patients (11 females,9 males) were identified. Mean age at the time of consultation was 52.9± 19.3 years. Angle-closure diagnoses included primary pupillary block (9 patients),pupillary block in an eye with keratoconus (1 patient),pupillary block secondary to a pupillary membrane associated with retinopathy of prematurity (1 patient),plateau iris configuration and syndrome (3 patients),phacomorphic glaucoma in Weill-Marchesani syndrome (2 patients),malignant glaucoma secondary to a scleral buckle (2 patients),miotic-induced angle closure (1 patient),and Marfan syndrome (1 patient). Conclusions: Angle closure can occur in eyes with high myopia. Causes of angle closure other than relative pupillary block are more common than in the general angle-closure glaucoma population. Careful gonioscopy accompanied by biometry and ultrasound biomicroscopy can lead to the correct diagnosis and individualized management in these eyes.
