We present a unique case of a ten-month-old boy with a protruding left globe and vitreous haemorrhaging, and later being diagnosed as a case of a dandy-walker syndrome (DWS) with buphthalmos and vitreous haemorrhage. Treatment is depending on the symptoms reported, thus close monitoring and a multidisciplinary approach are essential. We would like to recommend that even if there are no cardinal symptoms of DWS, paediatric patients with ocular signs should have Dandy walker Malformation (DWM) considered as a differential diagnosis.
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http://dx.doi.org/10.1016/j.radcr.2021.12.027 | DOI Listing |
J Community Hosp Intern Med Perspect
November 2024
Medstar Health Internal Medicine Residency Program, Baltimore, MD, USA.
The co-occurrence of inflammatory eye disease and hidradenitis suppurativa (HS) is uncommon; ocular involvement typically manifests as anterior uveitis. In this report, we present a unique case of peripheral ulcerative keratitis (PUK) where both infectious and rheumatological workup was negative, leading us to consider the possibility of an association between this condition and severe HS. As far as we are aware, there have only been six documented cases of PUK associated with HS.
View Article and Find Full Text PDFJ Biol Methods
November 2024
Department of Medicine and Surgery, University of Enna Kore, Enna 94100, Italy.
Background: Anterior uveitis is a common manifestation in individuals with rheumatic conditions such as spondylarthritis, Behçet's syndrome, juvenile idiopathic arthritis, and sarcoidosis. Clinical differentiation between granulomatous and non-granulomatous corneal endothelial exudates is crucial to subsequent diagnosis and treatment. Anterior segment optical coherence tomography (AS-OCT) can ensure an accurate differential diagnosis and appropriate follow-up after local and systemic therapy.
View Article and Find Full Text PDFQuant Imaging Med Surg
January 2025
Aier Institute of Refractive Surgery, Refractive Surgery Center, Guangzhou Aier Eye Hospital, Guangzhou, China.
Background: Whether the correlations between anterior and posterior corneal parameters vary according to different conditions is unknown. We aimed to investigate the anterior-to-posterior correlations of corneal parameters according to different refractive status and anterior segment dimension.
Methods: A total of 8,365 myopic eyes undergoing refractive surgery between 2017 and 2019 from multiple ophthalmic centers were consecutively included in the study.
Clin Genet
December 2024
Univ. Lille, CHU Lille, ULR7364 - RADEME - Maladies RAres du DEveloppement embryonnaire et du Métabolisme, CRMR Déficiences Intellectuelles de Causes Rares, Lille, France.
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP) is a rare autosomal dominant syndrome caused by pathogenic variants in the BRPF1 gene, which is critical for chromatin regulation. This study expands the clinical and molecular spectrum of IDDDFP by analysing 29 new patients from 20 families with confirmed BRPF1 variants. Our cohort presented with a wide range of clinical features including developmental delay, intellectual disability (ID) and characteristic dysmorphic facial features such as ptosis, blepharophimosis and a broad nasal bridge.
View Article and Find Full Text PDFOphthalmic Genet
January 2025
Department of Ophthalmology, Hospital das Clínicas - Empresa Brasileira de Serviços Hospitalares, Federal University of Pernambuco, Recife, Brazil.
Background: Oculodentodigital dysplasia (ODDD) is a rare syndrome that causes a constellation of facial, ophthalmic, dental, and limb abnormalities. Variants in the gap junction alpha-1 () gene have been described in patients with ODDD. Hereby we present the ocular manifestations in a patient with recessive ODDD due to a novel homozygous frameshift variant in .
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