Letter
Medicine, General & Internal
Philip Alexander, Gregory S. Fincham, Senjah Brown, David Collins, Annie M. McNinch, Arabella V. Poulson, Allan Richards, Howard Martin, Nick Wareham, Martin P. Snead
Summary: This study shows that transconjunctival prophylactic cryotherapy can prevent retinal detachment in individuals with type 1 Stickler syndrome.
NEW ENGLAND JOURNAL OF MEDICINE
(2023)
Article
Genetics & Heredity
Viney Gupta, Bindu Somarajan, Shikha Gupta, Karthikeyan Mahalingam, Manoj Kumar, Abhishek Singh
Summary: This study describes a rare variant in the EFEMP1 gene in a patient with juvenile onset open-angle glaucoma, who was also diagnosed with Stickler syndrome. The study highlights the association of juvenile onset open-angle glaucoma with EFEMP1.
OPHTHALMIC GENETICS
(2023)
Article
Otorhinolaryngology
Dan Swanson, Fadlullah Ba'th, Hanan Zavala, Siva Chinnadurai, Brianne Barnett Roby
Summary: This study aimed to determine whether the two most common genetic mutations seen in Stickler Syndrome (SS) affect the incidence of mandibular distraction osteogenesis (MDO) and the impact of Robin sequence (RS) on diagnosis. Results suggest that patients with type I mutation may have a higher incidence of MDO than patients with type II mutation, but further research with larger sample sizes is needed for validation.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
(2021)
Review
Genetics & Heredity
Frederic R. E. Acke, Els M. R. De Leenheer
Summary: Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial, and auditory manifestations. There is a wide phenotypical variability due to genetic heterogeneity. The most common type (COL2A1) presents with mild hearing loss, while COL11A1 and COL11A2 related types result in more frequent and moderate hearing loss. Middle ear problems and conductive hearing loss are also prevalent in Stickler syndrome patients.
Article
Genetics & Heredity
Philip Alexander, Martin P. Snead
Summary: Stickler syndromes are genetic conditions that affect the eye, inner ear, and cartilage. These abnormalities increase the risk of retinal detachment, especially through giant retinal tears. Surgical repair for retinal detachment in Stickler syndrome patients has poor outcomes, highlighting the need for prophylactic treatment. This review of clinical studies provides strong evidence supporting the efficacy and safety of prophylactic retinopexy to reduce the risk of retinal detachment in Stickler syndrome patients.
Article
Genetics & Heredity
Arif O. Khan, Lama AlAbdi, Nisha Patel, Rana Helaby, Mais Hashem, Firdous Abdulwahab, Fahad B. AlBadr, Fowzan S. Alkuraya
Summary: Stickler syndrome is a collagenopathy with typical autosomal dominant inheritance, primarily characterized by ocular manifestations such as myopia and lens opacities. Ophthalmologists should be vigilant in suspecting this syndrome in children with relevant clinical features.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Genetics & Heredity
Soon-Il Choi, Se-Joon Woo, Baek-Lok Oh, Jinu Han, Hyun-Taek Lim, Byung-Joo Lee, Kwangsic Joo, Jun-Young Park, Ja-Hyun Jang, Min-Kyung So, Sang-Jin Kim
Summary: This study retrospectively analyzed the genetic characteristics and clinical features of Korean Stickler syndrome patients, identifying 21 types of gene variants with 12 novel variants. Splicing variants were closely associated with retinal detachment, and this is the first large-scale study of Koreans with Stickler syndrome, expanding the spectrum of genetic variations for the syndrome.
Article
Genetics & Heredity
Hong Wu, Songtian Che, Shuchun Li, Yan Cheng, Jun Xiao, Zaoxia Liu
Summary: Stickler syndrome is a connective tissue disorder with symptoms affecting the eyes, skeleton, craniofacies, and inner ear to varying degrees. Exome sequencing identified a pathogenic splicing variant in the COL2A1 gene in a Mongolian family affected with the syndrome.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Genetics & Heredity
M. Mladenova, T. Todorov, L. Grozdanova, V Mitev, A. Todorova
Summary: This is the first reported familial case of genetically verified Marshall-Stickler syndrome spread through at least three generations in Bulgaria. The patients in the family show similar clinical manifestations and a novel splice site mutation c.3474+1G>A was found in the COL2A1 gene.
BALKAN JOURNAL OF MEDICAL GENETICS
(2021)
Review
Genetics & Heredity
Thomas R. W. Nixon, Allan J. Richards, Howard Martin, Philip Alexander, Martin P. Snead
Summary: Stickler syndrome is a genetic disorder that affects the eye, ear, joints, face, and palate. It is usually inherited in a dominant manner, but can also be inherited in a recessive manner. This review of recessive Stickler syndrome cases found that high myopia and sensorineural hearing loss were common symptoms. Cleft palate was associated with certain gene variants. Retinal detachment and joint pain were also frequently reported.
Article
Biochemistry & Molecular Biology
Carolyn S. Lee, Zurab Siprashvili, Angela Mah, Tomas Bencomo, Lara E. Elcavage, Yonglu Che, Rajani M. Shenoy, Sumaira Z. Aasi, Paul A. Khavari
Summary: The study revealed mutations in COL11A1 gene in common cutaneous squamous cell carcinomas, which accelerate the process of cancer cell invasion, suggesting that mutant collagens may play a crucial role in cancer development.
Article
Dentistry, Oral Surgery & Medicine
Fadlullah Bath, Dan Swanson, Hanan Zavala, Siva Chinnadurai, Brianne B. Roby
Summary: The retrospective chart review on pediatric patients diagnosed with Stickler syndrome revealed that type II SS patients are more likely to have congenital hearing loss than type I, and the COL11A1 mutation shows consistently more severe hearing loss than the COL2A1 mutation.
CLEFT PALATE-CRANIOFACIAL JOURNAL
(2022)
Article
Ophthalmology
Emma Linton, Assad Jalil, Panagiotis Sergouniotis, George Moussa, Graeme Black, Stephen Charles, Tsveta Ivanova
Summary: The aim of this study was to determine the safety and effectiveness of 360 degrees laser prophylaxis in preventing giant retinal tears (GRTs) and detachments in patients with Stickler syndrome. The results showed that patients who underwent laser prophylaxis had a lower rate of retinal detachments and no occurrence of GRTs. Therefore, 360 degrees laser prophylaxis is a safe and effective approach for individuals with Stickler syndrome.
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
(2023)
Review
Genetics & Heredity
Zack Soh, Allan J. Richards, Annie McNinch, Philip Alexander, Howard Martin, Martin P. Snead
Summary: This review article focuses on the autosomal dominant forms of Stickler syndrome, which is associated with conditions like retinal detachment, deafness, cleft palate, and arthritis. Pathogenic variants in COL2A1 usually result in protein haploinsufficiency, while pathogenic variants of type XI collagen typically exert dominant negative effects. The severity of the disease phenotype depends on the location and nature of the mutation, as well as the normal developmental role of the respective protein.
Article
Genetics & Heredity
Juan Chen, Jian Xu, Yang Yu, Ling Sun
Summary: Beckwith-Wiedemann syndrome (BWS) is a human disorder with overgrowth and cancer susceptibility, with a wide clinical spectrum. A study reported a BWS family with a genetic deletion involving the H19 gene. The male proband in the family had testicular anomalies and cryptorchidism, and early surgery did not improve his azoospermia, possibly due to genetic defects associated with H19 deletion.
FRONTIERS IN GENETICS
(2021)
Article
Ophthalmology
M. P. Snead, A. J. Richards, A. M. McNinch, P. Alexander, H. Martin, T. R. W. Nixon, P. Bale, N. Shenker, S. Brown, A. M. Blackwell, A. Poulson
Summary: Stickler syndrome, a genetic disorder often overlooked in diagnosis, can be identified in over 95% of cases through accurate molecular genetic analysis. Providing appropriate evidence-based prophylaxis for high-risk patients with retinal detachment can prevent blindness.
Letter
Ophthalmology
Aijing Wang, Martin Snead
Article
Urology & Nephrology
Ana Sofia Vilardouro, Joana Cachao, Marcia Rodrigues, Filipa Durao, Patricia Costa Reis, Ana Rita Sandes, Jose Esteves da Silva, Leonor Boto, Rosario Stone
Summary: This study aims to characterize the clinical features, severity, management, and outcomes of hemolytic-uremic syndrome (HUS) patients. A retrospective study was conducted on HUS patients admitted to a Pediatric Nephrology Unit between 1996 and 2020. The results showed that the majority of patients developed complications and the mortality rate was similar to that of other countries. Therefore, HUS patients should be managed in centers with intensive care and pediatric nephrology with capacity for diagnosis, etiological investigation, and adequate treatment. Long-term follow-up is essential.
JORNAL BRASILEIRO DE NEFROLOGIA
(2023)
Review
Genetics & Heredity
Allan J. Richards, Martin P. Snead
Summary: The fibrillar collagen family consists of major types I, II, III collagens and minor types V, XI. These collagens form heterotypic collagen fibrils that are regulated by the minor collagens, controlling their formation and size. Disruptions in the collagen biosynthesis process and alternative splicing can lead to various phenotypes. This article discusses the importance of considering these factors when analyzing DNA sequencing results from patients.
Review
Genetics & Heredity
Zack Soh, Allan J. Richards, Annie McNinch, Philip Alexander, Howard Martin, Martin P. Snead
Summary: This review article focuses on the autosomal dominant forms of Stickler syndrome, which is associated with conditions like retinal detachment, deafness, cleft palate, and arthritis. Pathogenic variants in COL2A1 usually result in protein haploinsufficiency, while pathogenic variants of type XI collagen typically exert dominant negative effects. The severity of the disease phenotype depends on the location and nature of the mutation, as well as the normal developmental role of the respective protein.
Review
Genetics & Heredity
Thomas R. W. Nixon, Allan J. Richards, Howard Martin, Philip Alexander, Martin P. Snead
Summary: Stickler syndrome is a genetic disorder that affects the eye, ear, joints, face, and palate. It is usually inherited in a dominant manner, but can also be inherited in a recessive manner. This review of recessive Stickler syndrome cases found that high myopia and sensorineural hearing loss were common symptoms. Cleft palate was associated with certain gene variants. Retinal detachment and joint pain were also frequently reported.
Editorial Material
Ophthalmology
Mel J. Maranian, Martin P. Snead
Article
Genetics & Heredity
Daniel Maghsoudi, Thomas R. W. Nixon, Martin P. Snead
Summary: Loeys-Dietz syndrome is a connective tissue disorder similar to Marfan syndrome, but retinal detachment is rarely reported. This study reports a 5-generation family affected by LDS, where 6 eyes of 4 individuals had retinal detachment. The study suggests that ophthalmic examination should be added to the initial assessment of LDS patients and patients should be informed of the early warning symptoms of retinal detachment.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Review
Pediatrics
Aijing Wang, Thomas Nixon, Howard Martin, Allan Richards, Annie McNinch, Philip Alexander, Rathin Pujari, Peter Bale, Nicholas Shenker, Philip Bearcroft, Senjah Brown, Adrian Blackwell, Arabella Poulson, Martin Snead
Summary: Legg-Calve-Perthes' disease (LCP) is a condition with avascular necrosis of the femoral head in children. Stickler syndromes, on the other hand, are a group of disorders associated with hip dysplasia, retinal detachment, deafness, and cleft palate. This paper compares the two conditions and presents a case series of 19 patients with genetically confirmed Stickler syndrome initially diagnosed as LCP. It highlights the potential for preventable blindness in children with undiagnosed Stickler syndrome presenting as LCP.
ARCHIVES OF DISEASE IN CHILDHOOD
(2023)
Article
Engineering, Chemical
M. J. Mulcahy, E. Tremellen, P. Alexander, M. P. Snead, R. Wang, D. I. Wilson
Summary: The 'Eye-on-a-Chip' is a microfluidic tool used to assess the emulsification of silicone oil used in vitreoretinal surgery. Flow patterns were studied in Eye-on-a-Chip geometries fabricated from polymethylmethacrylate. The 2D 'Eye-on-aChip' does not replicate the flow characteristics of the human eye.
CHEMICAL ENGINEERING RESEARCH & DESIGN
(2023)
Article
Ophthalmology
Hammad Malik, Zack Soh, Thomas R. W. Nixon, Annie McNinch, Allan J. Richards, Philip Alexander, Howard Martin, Martin P. Snead
Summary: This clinical report presents a family with both Marfan syndrome and ocular-only Stickler syndrome. Two cases of ocular-only Stickler syndrome and two cases of Marfan syndrome concurrent with ocular-only Stickler syndrome are reported. Differentiating between type 1 Stickler syndrome and Marfan syndrome based on clinical presentation alone can be challenging due to their shared clinical similarities. Vitreous phenotyping can help identify vitreous anomalies specific to Stickler syndrome, aiding in future gene sequencing. Accurate diagnosis of Marfan or type 1 Stickler syndrome is crucial, as patients with type 1 Stickler syndrome have a higher risk of retinal detachment and can benefit from prophylaxis.
EUROPEAN JOURNAL OF OPHTHALMOLOGY
(2023)
Letter
Medicine, General & Internal
Philip Alexander, Gregory S. Fincham, Senjah Brown, David Collins, Annie M. McNinch, Arabella V. Poulson, Allan Richards, Howard Martin, Nick Wareham, Martin P. Snead
Summary: This study shows that transconjunctival prophylactic cryotherapy can prevent retinal detachment in individuals with type 1 Stickler syndrome.
NEW ENGLAND JOURNAL OF MEDICINE
(2023)
Article
Ophthalmology
Thomas R. W. Nixon, Rebecca L. Davie, Martin P. Snead
Summary: This large, prospective study demonstrates a 9.9% rate of retinal tears or rhegmatogenous retinal detachment (RRD) at the time of posterior vitreous detachment (PVD), and emphasizes the importance of indentation indirect ophthalmoscopy (IIO) examination.
Article
Ophthalmology
Ian Flitcroft, John Ainsworth, Audrey Chia, Susan Cotter, Elise Harb, Zi-Bing Jin, Caroline C. W. Klaver, Anthony T. Moore, Ken K. Nischal, Kyoko Ohno-Matsui, Evelyn A. Paysse, Michael X. Repka, Irina Y. Smirnova, Martin Snead, Virginie J. M. Verhoeven, Pavan K. Verkicharla
Summary: The purpose of this study was to evaluate the epidemiology, etiology, clinical assessment, investigation, management, and visual consequences of high myopia in infants and young children. The findings suggest that high myopia is rare in pre-school children, with a prevalence less than 1%. The etiology of myopia in these children differs from older children, with a high rate of secondary myopia associated with prematurity or genetic causes. The clinical management of high myopia in infants and young children is complex and often requires a multidisciplinary approach, including investigation, optical correction, and myopia control treatments.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2023)
Article
Genetics & Heredity
Zack Soh, Howard Martin, Allan J. Richards, Mohnish Suri, Martin P. Snead
Summary: Czech dysplasia is a collagen disorder caused by the COL2A1 gene, characterized by skeletal abnormalities and hearing loss. This study reports, for the first time, ocular findings in patients with Czech dysplasia, including vitreous anomalies and retinal tears. These novel ocular findings expand the phenotype of Czech dysplasia and can serve as an additional diagnostic feature.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)