Results 51 to 60 of about 69,784 (157)
Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCA
, 2006 Background Leber's congenital amaurosis (LCA) is an inherited retinal dystrophy, which causes severe visual impairment in early childhood. Recent molecular genetic studies have linked 11 loci (AIPL1, CRB1, CRX, GUCY2D, RPE65, RDH12, RPGRIP1, TULP1, LCA3,
R K Özgül +7 more
core +1 more source
Case Reports in Ophthalmological Medicine, Volume 2026, Issue 1, 2026.Background and Aims We present a case of mixed mechanism glaucoma following NewColorIris implant that was successfully treated using an off‐label use of Xen Gel Stent. Methods A retrospective review of the patient′s medical records was conducted following the acquisition of informed consent.
Roshun Sangani +3 more
wiley +1 more source
ABCA4-associated maculopathy suspected to be ocular toxoplasmosis
BMC OphthalmologyBackground Macular coloboma is a rare congenital anomaly that may mimic other retinal pathologies, including infectious disease and inherited retinal dystrophies.
Maram E. A. Abdalla Elsayed +2 more
doaj +1 more source
Pseudo-strabismus secondary to macular heterotropia: a case report and literature review
British and Irish Orthoptic Journal, 2009 Aim: To present a case of pseudo-strabismus secondary to macular heterotropia, caused by retinopathy of prematurity (ROP). An overview is given of the literature on this subject.
Laura B. Wilkinson
doaj +1 more source
A Practical Guide to Genetic Eye Conditions for Paediatricians
Journal of Paediatrics and Child Health, Volume 61, Issue 10, Page 1538-1548, October 2025.ABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Richard Lin +5 more
wiley +1 more source
Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome
Molecular Genetics & Genomic Medicine, 2022 Background Jalili syndrome (JS) is a rare autosomal‐recessive inherited disorder characterized by cone‐rod dystrophy and amelogenesis imperfecta. It is often misdiagnosed in clinical practice due to its heterogeneity and rarity.
Huajin Li +3 more
doaj +1 more source
Heliyon, 2023 Objective: To evaluate the surgical visual outcomes of three-piece rigid scleral fixated intraocular lens (SFIOL) implantation in subjects with deficient posterior capsule following complications of cataract extraction.
G Nageswar Rao +4 more
doaj +1 more source
Identification of Variants in Four Families With Inherited Eye Disorders by Whole Exome Sequencing
Molecular Genetics &Genomic Medicine, Volume 13, Issue 9, September 2025.Our study identified mutations in genes in families associated with different eye disorders. We also explored the effect of a novel variant identified in the ALMS1 gene by using patient‐specific cells. Finally, previously published data was compiled to establish the genotype–phenotype relation.
Afeefa Jarral +5 more
wiley +1 more source
Advanced Intelligent Systems, Volume 7, Issue 8, August 2025.This study introduces a data augmentation method that expands an ophthalmology dataset by 12x, enhancing robustness and reducing overfitting. A novel VNet architecture improves accuracy by 10% over the original dataset and 5% over Grand Challenge benchmarks.
Samad Azimi Abriz +3 more
wiley +1 more source
Epidermal Nevi and Epidermal Naevus Syndromes
JEADV Clinical Practice, Volume 4, Issue 3, Page 669-680, August 2025.ABSTRACT Epidermal nevi (EN) arise from postzygotic variants in ectoderm‐derived cell lines, such as keratinocytes and cells forming adnexa. EN may be present alone without any associated abnormality or be part of a syndrome. In this review, we will discuss about the clinical and genetics of the main types of EN and related syndromes.
Gianluca Tadini +2 more
wiley +1 more source