Purpose: To present the ophthalmic manifestations of a 3-month old female with SCALP syndrome.
Observations: The patient presented with multiple ocular anomalies including bilateral limbal dermoids, esotropia and left optic nerve hypoplasia.
Conclusions: We describe systemic and ocular anomalies in a rare case of SCALP syndrome. This report provides additional information on the ocular anomalies not previously described that may be associated with this clinical entity.
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http://dx.doi.org/10.1016/j.ajoc.2018.04.018 | DOI Listing |
Cleft Palate Craniofac J
January 2025
College of Dentistry and Dental Clinics, University of Iowa, Iowa City, IA, USA.
Objective: Oculoauriculovertebral spectrum (OAVS) encompasses abnormalities on derivatives from the first and second pharyngeal arches including macrostomia, hemifacial microsomia, micrognathia, preauricular tags, ocular, and vertebral anomalies. We present genetic findings on a 3-generation family affected with macrostomia, preauricular tags and ptosis following an autosomal dominant pattern.
Design: We generated whole-genome sequencing data for the proband, affected father, and unaffected paternal grandmother followed by Sanger sequencing on 23 family members for the top candidate gene mutations.
GMS Ophthalmol Cases
December 2024
Universidade Federal do Paraná (UFPR), Curitiba, Brazil.
Purpose: Idiopathic elevated episcleral venous pressure (IEEVP) or Radius-Maumenee syndrome (RMS) is a rare disease without any identified underlying cause. An increasing episcleral venous pressure (EVP) leads to raised intraocular pressure (IOP) and consequently glaucomatous damage of the optic nerve. The objective of this paper is to report this rare condition as well as its clinical management.
View Article and Find Full Text PDFAm J Ophthalmol Case Rep
March 2025
Department of Ophthalmology and Visual Sciences, Nagasaki University Hospital, 1-7-1 Sakamoto, Nagasaki City, Nagasaki, 852-8501, Japan.
Purpose: Atovaquone is an alternative drug that is used for the prevention and treatment of pneumonia when the first-line drug, sulfamethoxazole-trimethoprim (ST combination), cannot be used due to side effects. However, atovaquone is known to cause ocular side effects including oculomucocutaneous syndrome and vortex keratopathy. In this report, we describe a patient who developed bilateral white granular diffuse corneal opacity that extended from the corneal sub-epithelium to the stroma after continuous oral atovaquone administration for 14 months.
View Article and Find Full Text PDFbioRxiv
December 2024
Departments of Ophthalmology and Visual Sciences and Genetics, Albert Einstein College of Medicine, Bronx, New York 10461.
Crystallin proteins serve as both essential structural and as well as protective components of the ocular lens and are required for the transparency and light refraction properties of the organ. The mouse lens crystallin proteome is represented by αA-, αB-, βA1-, βA2-, βA3-, βA4-, βB1-, βB2-, βB3-, γA-, γB-, γC-, γD-, γE, γF-, γN-, and γS-crystallin proteins encoded by 16 genes. Their mutations are responsible for lens opacification and early onset cataract formation.
View Article and Find Full Text PDFJ Fr Ophtalmol
January 2025
Department of Ophthalmology, Cochin Hospital, Université Paris-Cité, Assistance Publique-Hôpitaux de Paris, Paris, France; Inserm, Centre de Recherche des Cordeliers, Unit 1138 team 17, Paris, France.
Objective: To compare the corneal topographic parameters and ocular surface parameters of ocular rosacea (OR) patients across skin subtypes of the disease and healthy controls.
Methods: This prospective study included 180 eyes of 90 OR patients and 60 eyes of 30 healthy controls. Among the OR patients, 30 had phymatous (60 eyes), 30 had erythematotelangiectatic (60 eyes) and 30 had papulopustular skin types (60 eyes).
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