Results 91 to 100 of about 370,744 (189)
Daridorexant‐ Case Report of Possible Side‐Effect in Rare Mitochondrial Disorder
Journal of Sleep Research, EarlyView.ABSTRACT This case report describes a 40‐year‐old woman with maternally inherited diabetes and deafness (MIDD), a rare mitochondrial disorder, who received treatment with daridorexant due to severe chronic insomnia. She developed progression of her MIDD symptoms during treatment.
Sven Svedmyr, Joel Bergqvist
wiley +1 more source
Frontiers in MedicinePurposeMyopia is a major global health issue, especially among children and adolescents. Understanding its traits and progression is vital for proper management and prevention.
Ana Maria Varošanec +8 more
doaj +1 more source
Müller glia activation in response to inherited retinal degeneration is highly varied and disease-specific [PDF]
, 2015 Despite different aetiologies, most inherited retinal disorders culminate in photoreceptor loss, which induces concomitant changes in the neural retina, one of the most striking being reactive gliosis by Müller cells.
Graca, AB +6 more
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[Gene therapy for retinal dystrophies].
, 2012 Genetic mutations are the cause of inherited retinal dystrophies. The underlying genetic basis of these diseases suggests that a gene therapy approach is logical either to replace or reduce the expression of defective genes.
Charbel Issa, P +5 more
core +1 more source
Oral Lichenoid Lesions in Patients With Dyskeratosis Congenita: A Retrospective Case Series
Oral Diseases, EarlyView.ABSTRACT Background Dyskeratosis congenita (DKC) is a rare inherited multisystem disorder primarily affecting the mucocutaneous and hematopoietic systems. Classically, it presents with the ectodermal triad of reticulate skin pigmentation, nail dystrophy, and oral leukoplakia.
Yehuda Zadik +9 more
wiley +1 more source
Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype
Frontiers in GeneticsIntroduction:TULP1 exemplifies the remarkable clinical and genetic heterogeneity observed in inherited retinal dystrophies. Our research describes the clinical and molecular characteristics of a patient manifesting an atypical retinal dystrophy pattern ...
Anna Esteve-Garcia +14 more
doaj +1 more source
Techniques for subretinal injections in animals
Veterinary Ophthalmology, Volume 28, Issue 2, Page 506-518, March 2025.Abstract Subretinal injections are not commonly performed during clinical treatment of animals but are frequently used in laboratory animal models to assess therapeutic efficacy and safety of gene and cell therapy products. Veterinary ophthalmologists are often employed to perform the injections in the laboratory animal setting, due to knowledge of ...
Ryan F. Boyd, Simon M. Petersen‐Jones
wiley +1 more source
Management and treatment of inherited retinal dystrophies
Taiwan Journal of Ophthalmology, 2021 Sarah R Levi +2 more
doaj +1 more source
Veterinary Ophthalmology, Volume 28, Issue 2, Page 532-542, March 2025.Abstract The surgical reconstruction of severe corneal ulcers is a common and crucial component of the clinical practice of veterinary ophthalmology. Numerous surgical techniques are used in dogs for corneal reconstruction, and these techniques may be categorized by the material used to repair the corneal lesion.
Eric C. Ledbetter +2 more
wiley +1 more source
Recent Advancements in Gene Therapy for Hereditary Retinal Dystrophies
, 2017 Hereditary retinal dystrophies (HRDs) are degenerative diseases of the retina which have marked clinical and genetic heterogeneity. Common presentations among these disorders include night or colour blindness, tunnel vision, and subsequent progression to
ÖNER, Ayşe, Ayşe Öner
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