Pediatr Dermatol
Department of Dermatology and STD, Lady Hardinge Medical College, New Delhi, India.
Published: January 2021
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http://dx.doi.org/10.1111/pde.14469 | DOI Listing |
Ophthalmic Genet
March 2025
Department of Medical Molecular Genetics, National Research Center, Cairo, Egypt.
Background: Waardenburg syndrome (WS) is an auditory-pigmentary syndrome characterized by hair pigmentary abnormalities, pigmentary abnormalities of the iris, and congenital hearing loss. Type 1 associated with dystopia canthorum is caused by mutations in gene which codes for DNA-binding transcription factor involved in neural crest border induction at the neural plate.
Methods: A 41-year-old male patient of consanguineous Egyptian parents presenting with progressive nyctalopia and field constriction underwent complete ophthalmological examination.
J Glaucoma
February 2025
VST Centre for Glaucoma Care, L V Prasad Eye Institute, Kallam Anji Reddy Campus, Hyderabad, India.
Precis: Phakomatosis pigmentovascularis, a multisystem disorder, exhibited male predominance, with Phakomatosis cesioflammea as the most prevalent type. Glaucoma affected 88% of eyes, with three-quarters requiring surgery. Systemic issues, notably epilepsy and anaemia, were prevalent in over half of all subjects.
View Article and Find Full Text PDFJ Fr Ophtalmol
February 2025
Service d'ophtalmologie, hôpitaux universitaires de Strasbourg, 1, quai Louis-Pasteur, 67000 Strasbourg, France.
Retinal vasoproliferative tumor, otherwise known as retinal reactive astrocytic tumor, is a rare entity presenting as a mass in the inferior peripheral retina, associated with vascular abnormalities, and usually accompanied by exudative manifestations that affect the visual prognosis. The precise etiology is unknown, but the predominantly astrocytic and reactive nature of these lesions now appears to be established. It is classified as primary or secondary, and numerous associated ocular conditions have been reported, including pigmentary retinopathy, pars planitis and Coats' disease.
View Article and Find Full Text PDFContact Dermatitis
February 2025
Department of Dermatology, Command Hospital Air Force, Bengaluru, India.
Background: Parachute riggers are specialised tradesmen involved in packing parachutes. Occupational dermatoses have never been studied in them despite their job entailing hard manual work.
Objectives: To observe, diagnose, record and characterise various hand and nail changes and diseases in parachute riggers.
Ophthalmologica
February 2025
Department of Ophthalmology, University Hospital Bonn, Bonn, Germany.
Introduction: There is an unmet medical need for therapies in intermediate age-related macular degeneration (iAMD). The prospective European multicenter cohort study MACUSTAR validates structural, functional, and patient-reported iAMD endpoints for use in future trials. The multiplicity of assessments allows characterizing iAMD in more dimensions than previously available.
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