Results 21 to 30 of about 2,270 (207)
Clinical Genetics, Volume 104, Issue 4, Page 418-426, October 2023., 2023 Abstract Four members of a three‐generation Czech family with early‐onset chorioretinal dystrophy were shown to be heterozygous carriers of the n.37C>T in MIR204. The identification of this previously reported pathogenic variant confirms the existence of a distinct clinical entity caused by a sequence change in MIR204.
Jana Jedlickova +9 more
wiley +1 more source
VIEW, Volume 4, Issue 3, June 2023., 2023 In this review, the authors have concentrated on the novel strategies for applying retinal‐image‐based artificial intelligence models in ophthalmology and based on the close relationship between eye and systemic diseases, to diagnose and predict the prognosis of kidney diseases.
Jingyi Wen +5 more
wiley +1 more source
Retinal Detachment in a Patient with Microphthalmos and Choroidal Coloboma
Journal of the Formosan Medical Association, 2007 We report a rare case of retinal detachment with microphthalmos and choroidal coloboma. A 28-year-old man who had suffered from poor vision since early childhood was examined because of progressive deterioration of vision in his right eye. Examination of
Muh-Shy Chen +4 more
doaj +1 more source
Prenatal Diagnosis, Volume 42, Issue 4, Page 484-494, April 2022., 2022 Abstract Objectives To characterize a suggestive prenatal imaging pattern of Aicardi syndrome using ultrasound and MR imaging. Methods Based on a retrospective international series of Aicardi syndrome cases from tertiary centers encountered over a 20‐year period (2000–2020), we investigated the frequencies of the imaging features in order to ...
Léo Pomar +17 more
wiley +1 more source
Acta Ophthalmologica, Volume 99, Issue 3, Page e415-e422, May 2021., 2021 Abstract Purpose Early detection of ocular abnormalities in newborns is essential for timely diagnosis and treatment. This study aimed to assess the 1‐year result of a multicentre prospective neonatal eye examination programme with wide‐field digital imaging system in China.
Ping Fei +28 more
wiley +1 more source
Imaging of adult ocular and orbital pathology - a pictorial review [PDF]
, 2014 Orbital pathology often presents a diagnostic challenge to the reporting radiologist. The aetiology is protean, and clinical input is therefore often necessary to narrow the differential diagnosis.
Brennan, Paul +8 more
core +1 more source
Insights into the regulatory role of Plexin D1 signalling in cardiovascular development and diseases
Journal of Cellular and Molecular Medicine, Volume 25, Issue 9, Page 4183-4194, May 2021., 2021 Abstract Plexin D1 (PLXND1), which was previously thought to mediate semaphorin signalling, belongs to the Plexin family of transmembrane proteins. PLXND1 cooperates mostly with the coreceptor neuropilin and participates in many aspects of axonal guidance. PLXND1 can also act as both a tumour promoter and a tumour suppressor. Emerging evidence suggests
Yi‐Fei Zhang +8 more
wiley +1 more source
Congenital upper eyelid coloboma with ipsilateral eyebrow hypoplasia [PDF]
, 2012 Introduction. Coloboma is a Greek word, which describes the defect of all layers of the organ, and it can be congenital or as the result of an injury, operation, or some disease.
Janićijević-Petrović Mirjana +7 more
core +1 more source
Seronegative macular coloboma with multifocal choroiditis
Indian Journal of Ophthalmology - Case Reports, 2022 Macular coloboma is a rare and distinct entity thought to be a consequence of a developmental abnormality or a resolved inflammation secondary to intrauterine or postnatal infection. Acquired macular scars are usually post-inflammatory scars secondary to chorioretinitis usually caused by toxoplasmosis, cytomegalovirus, and ...
Mousumi Banerjee +3 more
openaire +1 more source
Ocular manifestations of Sturge–Weber syndrome: pathogenesis, diagnosis, and management [PDF]
, 2016 Sturge-Weber syndrome has been included in the group of phakomatoses that is characterized by hamartomas involving the brain, skin, and eyes. The characteristic facial port-wine stain, involving the first branch of the trigeminal nerve and the embryonic ...
Abdolrahimzadeh, Solmaz +4 more
core +1 more source