Sjögren–Larsson syndrome: Optical coherence tomography and a novel mutation

Burgueño-Montañés, C.; García-Fernández, María; Colunga-Cueva, M.; García-López, A.

doi:10.1016/j.oftale.2014.11.005

Cited by 3 publications

(3 citation statements)

References 4 publications

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“…Finally, eight publications were excluded because of probable patient double counts or other specific reasons (prenatally diagnosed patients, etc.). In total, 50 publications contained relevant genetic data and qualified for inclusion in this study (Alió, Bird, McClellan, & Cunningham, ; Aoki, Suzuki, Ito, & Ito, ; Auada et al., ; Botelho Gomes et al., ; Burgueño‐Montañés, Garcia‐Fernández, Colunga‐Cueva, & Garcia‐López, ; Carney et al., ; Cubo & Goetz, ; Davis et al., ; De Laurenzi et al., ; Didona et al., ; Engelstad et al., ; Gaboon, Jelani, Almramhi, Mohamoud, & Al‐Aama, ; Gånemo et al., ; Garcia‐Peris, Latour‐Álvarez, Pestana‐Eliche, & Sánchez, ; Hidalgo et al., ; Incecık, Herguner, Rizzo, & Altunbasak, , ; Jain et al., ; Jean‐François, Low, Gonzales, & Sarraf, ; Kariminejad et al., ; Kim et al., ; Kraus et al., ; Lossos et al., ; Möhrenschlager, Braun‐Falco, & Ring, ; Nagappa et al., ; Nakajima et al, ; Nakano et al., ; Paiva et al., ; Papathemeli et al., ; Rafai et al., ; Rizzo et al., , ; Sakai et al., , ; Sanabria & Coco, ; Sarret et al., ; Shah et al., ; Shamriz, Molho‐Pessach, Shaag, Daum, & Stepensky, ; Shibaki, Akiyama, & Shimizu, ; Sijens et al., ; Sillén et al., ; Tachibana, Aida, Enomoto, Iai, & Kurosawa, ; Taghdiri, Kashef, Fardaei, & Miryounesi, ; Takeichi et al., ; Tanteles et al., ; Tavasoli et al., ; Tsukamoto, Chang, & Yoshida, ; Vural et al., ; Willemsen et al., ; Yiş and Terrinoni, ). One further yet unpublished case has been included into the database. Data extraction : Most of the selected publications contained both, genetic and phenotypic/other information, which was categorized into three groups: …”

Section: Methodsmentioning

confidence: 99%

Genotype and phenotype variability in Sjögren-Larsson syndrome

et al. 2018

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The Sjögren–Larsson syndrome (SLS) is a rare autosomal recessive disorder caused by pathogenic variants in the ALDH3A2 gene, which codes for fatty aldehyde dehydrogenase (FALDH). FALDH prevents the accumulation of toxic fatty aldehydes by converting them into fatty acids. Pathogenic ALDH3A2 variants cause symptoms such as ichthyosis, spasticity, intellectual disability, and a wide range of less common clinical features. Interpreting patient‐to‐patient variability is often complicated by inconsistent reporting and negatively impacts on establishing robust criteria to measure the success of SLS treatments. Thus, with this study, patient‐centered literature data was merged into a concise genotype‐based, open‐access database ( www.LOVD.nl/ALDH3A2 ). One hundred and seventy eight individuals with 90 unique SLS‐causing variants were included with phenotypic data being available for more than 90%. While the three lead symptoms did occur in almost all cases, more heterogeneity was observed for other frequent clinical manifestations of SLS. However, a stringent genotype–phenotype correlation analysis was hampered by the considerable variability in reporting phenotypic features. Consequently, we compiled a set of recommendations of how to generate comprehensive SLS patient descriptions in the future. This will be of benefit on multiple levels, for example, in clinical diagnosis, basic research, and the development of novel treatment options for SLS.

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Section: Methodsmentioning

confidence: 99%

Genotype and phenotype variability in Sjögren-Larsson syndrome

et al. 2018

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“…12 In children aged 3 years and younger, unintentional injuries often occur at the hands of caregivers, parents, or siblings. 15 Self-inflicted injuries are also prevalent in this age group due to underdeveloped hand-eye coordination and fine motor skills. Older children typically experience injuries from toys, pens, pencils, tree branches, and sports-related incidents.…”

Section: Discussionmentioning

confidence: 99%

Pediatric Ocular Trauma Management: A Case Study of Effective Intra-Orbital Foreign Body Iofb Extraction

Alexandria Stephanie,

Liesa Z Subuh,

Doni Setiawan

et al. 2024

JRE

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Highlights: The rare nature of Orbitocranial Injury with Intraorbital Foreign Body (IOFB). Utilizing a 3D Head CT Scan to ascertain the precise location of the IOFB and its impact on anatomical structures is pivotal in shaping immediate treatment strategies, thereby reducing the potential for complications. Abstract: Introduction: Penetrating intraorbital foreign body (IOFB) injuries are a rare form of traumatic injury. Recognized as a surgical emergency, meticulous history-taking and a thorough examination are essential for determining the trauma's mechanism and cause, facilitating accurate diagnosis and effective disease management. Case Illustration: In the emergency room, a 5-year-old female patient was presented with a craniofacial injury resulting from an IOFB. An evacuation procedure, conducted through a subsidiary incision, was performed to extract the foreign body. Interestingly, the object removed from the orbital cavity was a plastic foreign body, initially suspected to be a fractured orbital bone. Discussion: The clinical presentation, management, and outcomes of orbital foreign body injuries can differ based on the material composition of the foreign body. In cases of intraorbital foreign body trauma, the primary treatment goal is foreign body removal. Conclusion: Precise and accurate initial management in the emergency department is crucial. Early diagnosis, aided by a 3D head CT scan, is instrumental in locating the IOFB and identifying the involved anatomical structures. This, in turn, enables timely treatment decisions to minimize the risk of complications.

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“…Ocular abnormalities include reduced visual acuity and photophobia, glistening intraretinal crystalline deposits on fundoscopy compatible with hyperreflective dots along the INL and OPL in OCT within the fovea (Burgueño‐Montañés et al. ; Theelen et al. ).…”

Section: Discussionmentioning

confidence: 99%