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Screening of Clinical Data of Patients with Abnormal Head Posture and Investigation of Abnormal Head Posture Change After Treatment.
Turk J Ophthalmol
February 2025
Ondokuz Mayıs University Faculty of Medicine, Department of Ophthalmology, Samsun, Türkiye.
Objectives: To analyze the clinical characteristics of patients with abnormal head posture (AHP) due to ocular causes and investigate the effect of treatment on the change in AHP.
Materials And Methods: Patients with AHP admitted to the strabismus unit of our clinic between 2011 and 2022 were retrospectively analyzed. The patients' clinical and demographic data and change in AHP after treatment were recorded.
Synonymous but Significant: New Findings of Pathological Variants in Hermansky-Pudlak Syndrome.
Pigment Cell Melanoma Res
March 2025
Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, Japan.
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and systemic complications, including bleeding tendencies. While 11 genes associated with HPS have been identified, cases of HPS5 remain exceedingly rare, particularly in Japan. Here, we report two Japanese patients with novel pathological HPS5 variants, expanding the genetic spectrum of this disorder.
View Article and Find Full Text PDFMud-splattered pattern of retinal pigmentation in carrier of ocular albinism type 1.
Eye (Lond)
February 2025
Department of Ophthalmology, Hospital Nord, Aix-Marseille University, Marseille, France.
A patient with TPCN2-related hypopigmentation and ocular phenotype.
Eur J Hum Genet
March 2025
Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.
Pigmentation is orchestrated by hundreds of genes involved in cellular functions going from early developmental fate of pigment cells to melanin synthesis. The Two Pore Channel 2 (TPC2) a Ca2+ and Na+ channel acidifies melanosomal pH and thus inhibits pigmentation. A young patient was recently reported with generalized hypopigmentation but uneventful ocular examination, caused by the de novo heterozygous TPCN2 variant c.
View Article and Find Full Text PDFChoroidal Neovascularization in a Female Carrier of Ocular Albinism with a GPR143 Mutation: A Case Report.
Korean J Ophthalmol
February 2025
Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
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