Results 71 to 80 of about 3,282 (209)
Molecular Genetics &Genomic Medicine, Volume 13, Issue 6, June 2025.A novel synonymous variant of PAX2 in monochorionic diamniotic twins with bilateral renal dysplasia was demonstrated to be associated with PAX2‐disorders through the integration of clinical findings and minigene assay results. ABSTRACT Background Paired Box 2 (PAX2, NM_000278.5) encodes paired box gene 2, one of many human homologs of the Drosophila ...
Wencong Yao +8 more
wiley +1 more source
International Journal of Retina and Vitreous, 2023 Purpose The aim of this study is to describe and compare the baseline demographic, ocular, and imaging characteristics of a cohort of patients with optic disc pit (ODP) or optic disc coloboma (ODC) maculopathy.
Vishma Prabhu +8 more
doaj +1 more source
Profile of paediatric low vision population: a retrospective study from Nepal. [PDF]
, 2016 BACKGROUND: Childhood blindness and low vision have become major public health problems in developing countries. The purpose of this study was to categorise the causes of visual impairment according to aetiology and provide detailed local information on ...
Khanal, Safal +3 more
core +1 more source
Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders
Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.ABSTRACT Phosphatidylinositol, a glycerophospholipid with a myo‐inositol head group, can form seven different phosphoinositides (PItds) by phosphorylation at inositol carbons 3, 4 and/or 5. Over 50 kinases and phosphatases participate in PItd metabolism, creating an interconnected PItd network that allows for precise temporal and spatial regulation of ...
Francis Rossignol +2 more
wiley +1 more source
Case Reports in Ophthalmology, 2015 Optic disc pit and optic nerve coloboma are examples of congenital optic disc abnormalities. Although optic nerve coloboma can be inherited in an autosomal dominant fashion, no conclusive link has been found in the case of optic disc pit as an autosomal ...
Chia Lee Hsu, Christopher J. Layton
doaj +1 more source
Nystagmus in a newborn: a manifestation of Joubert syndrome in the neonatal period. [PDF]
, 2016 Joubert syndrome is a rare disorder, usually autosomal recessive, with a prevalence of 1:80 000 to 1:100 000. This disease presents most commonly as breathing irregularities, although the two major clinical criteria are hypotonia and developmental delay,
Albuquerque, C +3 more
core +1 more source
Dynamic Atypical Optic Nerve Coloboma Associated With Transient Macular Detachment [PDF]
Archives of Ophthalmology, 2005 Macular schisis or detachment is frequently observed in eyes with optic pits or colobomas. Although spontaneous resolution of the maculopathy has been reported, concurrent changes in the optic nerve coloboma have not. We report three cases of atypical optic nerve colobomas in which dynamic optic nerve changes coincide with the development and ...
Stephen L, Perkins +4 more
openaire +3 more sources
Clinical Genetics, Volume 107, Issue 3, Page 292-299, March 2025.A novel heterozygous de novo NTN1 missense variant was identified in a patient with chorioretinal coloboma, sensorineural deafness and polydactyly, through screening of micropthalmia anophthalmia coloboma (MAC) patients in the Genomics England 100 000 Genomes Project dataset.
Maria Toms +5 more
wiley +1 more source
A case of Hallermann-Streiff-Francois syndrome : an ophthalmological perspective [PDF]
, 2017 Hallermann-Streiff-François syndrome is a rare condition which offers multidisciplinary diagnostic and therapeutic challenges. The difficulty in dealing with these cases is compounded by the presentation at a very young age.
Vassallo, James
core
Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement
JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley +1 more source