Results 101 to 110 of about 61,783 (227)
Clinical Genetics, Volume 109, Issue 5, Page 972-977, May 2026.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 +11 more
wiley +1 more source
Haplotype‐Based Analysis of OCA2 Variants in Oculocutaneous Albinism
Pigment Cell &Melanoma Research, Volume 39, Issue 3, May 2026.This study defines multi‐allele haplotypes, comprised of rare disease variants combined with common eQTL, sQTL and GWAS variants, for oculocutaneous albinism type 2 (OCA2). These haplotypes have implications for variant pathogenicity assessments and phenotypic variability.
Meredith F. Gillis +14 more
wiley +1 more source
Clinical OphthalmologyManoj Motwani, Lourdes Haydaw Cornea Revolution/Motwani, LASIK Institute, San Diego, CA, 92121, USACorrespondence: Manoj Motwani, Cornea Revolution/Motwani, LASIK Institute, 9710 Scranton Road, Ste 170, San Diego, CA, 92121, USA, Tel +1 858 554-0008 ...
Motwani M, Haydaw L
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Focal length, chromatic and spherical aberration, and astigmatism testing for astronomical ...
Hartmann, J.
core +1 more source
Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea
American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 937-946, April 2026.ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat +4 more
wiley +1 more source
Behavioral Interventions, Volume 41, Issue 2, April 2026.ABSTRACT Mucopolysaccharidosis type IIIA (MPS IIIA/Sanfilippo Syndrome), a rare lysosomal storage disorder, causes significant communication delays and regression in affected children. The majority of children lack or lose verbal communication by 6 years.
Kimberly A. Schreck +3 more
wiley +1 more source
Study of an instrument for sensing errors in a telescope wavefront [PDF]
Focal plane sensors for determining the error in a telescope wavefront were investigated. The construction of three candidate test instruments and their evaluation in terms of small wavefront error aberration measurements are described.
Golden, L. J. +2 more
core +1 more source
Clinical Case Reports, Volume 14, Issue 4, April 2026.ABSTRACT Early and accurate spectacle correction in children with refractive esotropia and anisometropic amblyopia can restore orthotropia, improve visual acuity, and prevent long‐term amblyopia. Timely diagnosis, careful refractive assessment, and individualized management are crucial.
Nabila Al‐Tamimi +3 more
wiley +1 more source
Risk Factors of Keratoconus in High School Students in Trinidad and Tobago: A Cross‐Sectional Study
Health Science Reports, Volume 9, Issue 4, April 2026.ABSTRACT Background Keratoconus (KC) is the most common form of keratectasia that is associated with impaired vision and reduced quality of life, especially in adolescents. This study aims to identify and assess the risk factors associated with KC among high school students in Trinidad and Tobago (T&T).
Ngozika Esther Ezinne +5 more
wiley +1 more source
Awareness About Keratoconus and Its Relation With Eye Rubbing: A Cross‐Sectional Study in Riyadh
Health Science Reports, Volume 9, Issue 4, April 2026.ABSTRACT Background Keratoconus is a progressive eye disease affecting the cornea, the clear dome‐ shaped structure at the front of the eye. In keratoconus, the cornea thins and bulges outward into a cone shape, leading to loss of visual acuity. The aetiology of keratoconus remains unclear, but it involves both genetic and environmental factors.
Omar Alhadlaq S +6 more
wiley +1 more source