Results 201 to 210 of about 12,829 (257)

Comparison of optical and ultrasound pachometry

Indian Journal of Ophthalmology, 2000
Korah Sanita, Thomas Ravi, Muliyil Jayaprakash   +2 more
doaj  

Diagnostics of diabetic retinopathy based on fundus photos using machine learning methods with advanced feature engineering algorithms. [PDF]

Sci Rep
Gandor M, Pałka F, Książek W, Pławiak P, Siedlecka A, Jeruzalski T, Olender-Skorek M, Jonak K, Rejdak R, Nowomiejska K, Matysik-Woźniak A, Teus M, Sanchez CA, Sylwestrzak M.   +13 more
europepmc   +1 more source

Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)—A Novel Cause of Premature Ovarian Insufficiency

Clinical Genetics, EarlyView.
We describe a woman with MNGIE due to a novel homozygous TYMP nonsense variant and propose MNGIE as the cause of her premature ovarian insufficiency—a rarely reported association—highlighting the need to consider mitochondrial disease in unexplained POI, especially in atypical, consanguineous presentations. ABSTRACT Mitochondrial DNA depletion syndrome
Michael Matheou, Helen Turner, Deborah Shears, Fredrik Karpe   +3 more
wiley   +1 more source

A new interdisciplinary perspective in the design of early evaluation and intervention programs for children with visual impairment. [PDF]

Front Pediatr
Mercuriali E, Ceccato C, Incagli F, Berto G, Suppiej A, Reffo ME.   +5 more
europepmc   +1 more source

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self‐Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery

Clinical Genetics, EarlyView.
Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.
Kristin Theobald, Amelle Shillington, Farrah Jackson, Jaime Lopes, Casey J. Brewer, Brian Dawson, Gang Wu, James Denton, Mike Pauciulo, Xue Zhang, Anne Slavotinek   +10 more
wiley   +1 more source

A comparative evaluation of parafoveal and perifoveal macular vessel density loss in glaucoma using 3 × 3 mm OCTA scans. [PDF]

Sci Rep
Garcia Kahmeyer D, Mardin C, Lämmer R, Hohberger B, Schottenhamml J.   +4 more
europepmc   +1 more source

The Phenotypic and Genotypic Features of ADAMTSL4‐Related Ocular Disease

Clinical Genetics, EarlyView.
ADAMTSL4‐related ocular disease tends to present at a younger age and be associated with higher myopia than other forms of ectopia lentis (such as FBN1). A previously reported 20‐bp deletion (c.767_786del) was highly prevalent in this cohort (23/32), and all ectopia lentis et pupillae cases carried this variant. ABSTRACT Pathogenic variants in ADAMTSL4
Katie M. Williams, Wolfgang Berger, Samuel Koller, Fatma Kivrak Pfiffner, Alessandro Maspoli, Jiradet Gloggnitzer, Britta V. T. Brühwiler, Christina Stathopoulos, Francis Munier, Louise Allen, Christos Iosifidis, Graeme C. Black, Panagiotis I. Sergouniotis, Ian Christopher Lloyd, Christina Gerth‐Kahlert   +14 more
wiley   +1 more source

Development of an embedded diagnostic tool for visual misalignment screening. [PDF]

HardwareX
Rodriguez DS, Rivera Gomez AE, Serrezuela RR.   +2 more
europepmc   +1 more source

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11‐Related Phenotype

Clinical Genetics, EarlyView.
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson, Zhuo Shao, Anupreet Tumber, Erika Tavares, Kashif Ahmed, Edward J. Higginbotham, Christian R. Marshall, Jason T. Maynes, Ammaji Rajala, Raju V. S. Rajala, Elise Héon, Ajoy Vincent   +11 more
wiley   +1 more source

Opportunities and Challenges of Using Artificial Intelligence in Predicting Clinical Outcomes and Length of Stay in Neonatal Intensive Care Units: Systematic Review.

J Med Internet Res
Tudor S, Bhatia R, Liem M, Wani TA, Boyd J, Raza Khan U.   +5 more
europepmc   +1 more source