Results 251 to 260 of about 448,957 (296)

A Novel Pathogenic Variant in CRB1 as the Cause of Non‐Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Non‐syndromic Retinitis Pigmentosa (NsRP) was well known as one of the causes of visual impairment already in the 19th century. Giuseppe Albertotti, Professor of Ophthalmology at the University of Modena (Italy) in 1893, described a high prevalence of NsRP in a geographic isolate, the small village of Colloro, in northwestern Italy.
Andrea Guala, Fabio Sirchia, Claudia Scotti, Elena Rossi, Roberta Falcioni, Silvano Ragozza, Antonella Casella, Enza Maria Valente, Cesare Danesino   +8 more
wiley   +1 more source

Breakthroughs in diabetic retinopathy diagnosis and treatment using preclinical research models: current progress and future directions. [PDF]

Ann Med
Peng X, Peng Y, Li L, Liu L, Zhou G, Cai Y.   +5 more
europepmc   +1 more source

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher, Orli Greenberg, Patrick Shannon, Andrea Staines, Bobbi McGivern, Melanie Patricia Napier, David Chitayat   +6 more
wiley   +1 more source

Removal of subretinal strands without creating an intentional retinal hole: A case report. [PDF]

Am J Ophthalmol Case Rep
Sakata S, Sakanishi Y, Inoue K, Ebihara N.   +3 more
europepmc   +1 more source

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard   +2 more
wiley   +1 more source

Topographic associations of hyperreflective materials in diabetic retinopathy: a multimodal correlation with microvascular pathology, structural remodeling and systemic metabolic dysregulation. [PDF]

Front Med (Lausanne)
Zhou L, Sun H, Li C, Luo T, Meng T, Wen X, Chen Z, Hu Y, Yang MM.   +8 more
europepmc   +1 more source

Electrical Stimulation of Trigeminal Nerve at the Anterior Nasal Septum in Healthy Individuals and Patients With Olfactory Dysfunction

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background The intranasal trigeminal system contributes to the sense of smell. Its integrity in olfactory dysfunction (OD) may be crucial for future treatments. This study assessed trigeminal sensitivity in healthy individuals and patients with OD of different etiologies using electrical stimulation of the nasal mucosa.
Konstantinos Garefis, Susanne Weise, Pauline Hanslik, Coralie Mignot, Halina B. Stanley, Maxime Fieux, Camille Ferdenzi, Evangelia Tsakiropoulou, Clémentine Lipp, Arnaud Bertsch, Moustafa Bensafi, Iordanis Konstantinidis, Thomas Hummel   +12 more
wiley   +1 more source

Case Report: A rare presentation of short posterior ciliary artery occlusion with paracentral acute middle maculopathy. [PDF]

Front Med (Lausanne)
Yuanmin D, Jiehui X.
europepmc   +1 more source

Establishment of a novel alloxan‐induced rabbit model exhibiting unique diabetic retinal neuropathy features assessed via ERG + VEP

Animal Models and Experimental Medicine, EarlyView.
Study workflow. Neuroretinal changes were observed in alloxan‐induced diabetic rabbits, while the retinal vasculature remained unaffected, indicating the successful establishment of a diabetic neuroretinal model. Abstract Background Diabetic retinal neuropathy (DRN) leads to significant visual impairment; however, no existing animal model fully ...
Xinlu Li, Xiaojing Dong, Defei Feng, Han Hu, Bai Li, Zhongjian Liu, Wei He, Chenchen Huang, Zhizhou Shi, Yan Mei   +9 more
wiley   +1 more source

Topical ophthalmic administration of the antiangiogenic peptide VIAN-c4551 protects against experimental diabetic macular edema. [PDF]

Sci Rep
Adán-Castro E, Zamora M, Granados-Carrasco D, Siqueiros-Márquez L, García-Rodrigo JF, Macias F, Bertsch T, Triebel J, Arnold E, Martínez de la Escalera G, Robles JP, Clapp C.   +11 more
europepmc   +1 more source