Results 231 to 240 of about 13,020 (279)
Clinical &Experimental Ophthalmology, EarlyView.ABSTRACT Background This retrospective multicenter longitudinal analysis analysed the loss trajectory of best recorded visual acuity (BRVA) and Goldmann visual field (GVF) in RPGR‐associated retinal degeneration (RPGR‐RD). Methods Patients with genetically confirmed RPGR‐RD were classified into rod‐cone (RC), cone/cone‐rod (CR) and female‐carrier ...
Bela J. Parekh +52 more
wiley +1 more source
Clinical &Experimental Ophthalmology, EarlyView.ABSTRACT Background Current evidence on incidence and progression rate of diabetic retinopathy reveals disparities across Australasia, and no pooled estimates are available to guide region‐wide planning. This review and meta‐analysis assesses the overall incidence, determinants and progression of diabetic retinopathy in Australasia.
Getasew Alemu Mersha +6 more
wiley +1 more source
Femtosecond Laser Created Corneal Allogenic Intrastromal Ring Segments for Keratoconus
Clinical &Experimental Ophthalmology, EarlyView.ABSTRACT Background To evaluate the clinical outcomes of femtosecond laser‐created corneal allogenic intrastromal ring segments (femto‐CAIRS) in keratoconic eyes using a newly described nomogram. Methods This retrospective case series recruited 85 eyes from 75 patients.
David J. Gunn +2 more
wiley +1 more source
Long‐Term Local Control and Mortality After Transpupillary Thermotherapy of Small Uveal Melanomas
Clinical &Experimental Ophthalmology, EarlyView.ABSTRACT Background Transpupillary thermotherapy (TTT) is used for selected small choroidal melanocytic tumours, either as primary treatment or as an adjunct to plaque brachytherapy. We compared long‐term local recurrence and mortality outcomes after primary TTT alone, plaque brachytherapy combined with TTT (brachy+TTT), and plaque brachytherapy alone (
Maria Fili +5 more
wiley +1 more source
Exploring the Impact of RNU4‐2 Defects on Neurodevelopmental Disorders in a Korean Population
Clinical Genetics, EarlyView.Among 15 450 Korean individuals, noncoding RNU4‐2 variants, primarily the recurrent de novo n.64_65insT, make up 0.72% of neurodevelopmental disorders. Modeling and RNA‐seq suggest U4/U6 disruption and abnormal 5′ splice‐site selection, supporting routine use of WGS analysis for reanalyzing unresolved cases. ABSTRACT Neurodevelopmental disorders (NDDs)
Juhyeon Hong +20 more
wiley +1 more source
Clinical Genetics, EarlyView.We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig +5 more
wiley +1 more source
Clinical Genetics, EarlyView.We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw +30 more
wiley +1 more source
Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy
Clinical Genetics, EarlyView.A heterozygous PHB1 missense variant (p.Ser147Phe) segregates with autosomal dominant optic atrophy in a multi‐generation family. Structural and cellular analyses suggest altered mitochondrial dynamics, identifying PHB1 as a novel candidate gene for hereditary optic neuropathy. ABSTRACT Hereditary optic neuropathies comprise a genetically heterogeneous
Marija Volk +13 more
wiley +1 more source
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.Summary Background and Objectives Teledermatology has become an essential part of dermatological care, although challenges in its implementation remain. We conducted a real‐life survey on video consultations over a one‐year period to assess satisfaction and identify barriers.
Felix von Krogh +4 more
wiley +1 more source
Transorbital Penetrating Intracranial Injury by Wooden Foreign Body: A Rare Case Report. [PDF]
Clin Case RepChaulagain U +7 more
europepmc +1 more source