Results 71 to 80 of about 5,544 (177)

Recurrent progressive anterior segment fibrosis syndrome following a descemet-stripping endothelial keratoplasty in an infant with congenital aniridia

Indian Journal of Ophthalmology, 2014
Progressive anterior segment fibrosis syndrome (ASFS), after intraocular surgery in older children (≥9 years) and adults with congenital aniridia, is described in the literature.
Mihir Kothari, Kavita Rao, Samita Moolani   +2 more
doaj   +1 more source

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

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
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

ITPR1 Deletion in a Patient With Sensory Ataxic Neuropathy and Sjögren Syndrome

Journal of the Peripheral Nervous System, Volume 30, Issue 4, December 2025.
ABSTRACT Background Sensory ataxic neuropathies (SAN) are rare large fibre sensory neuropathies characterised by progressive sensory loss and ataxia. They may be inherited or acquired. When inherited they are more commonly seen as part of a broader syndrome involving cerebellar ataxia or mitochondrial dysfunction.
Saif Haddad, Roy Poh, Jason Hehir, James M. Polke, Julian Blake, Mary M. Reilly   +5 more
wiley   +1 more source

Germ cell and other tumors in individuals with differences in sex development

CA: A Cancer Journal for Clinicians, Volume 75, Issue 6, Page 587-601, November/December 2025.
Abstract Approximately one in 3500 to one in 5100 live‐born infants have atypical external genital development, known as differences in sex development (DSD). In 2005, an expert consensus conference thoroughly reviewed aspects of health care for individuals with DSD.
Selma Feldman Witchel, Miguel Reyes‐Múgica   +1 more
wiley   +1 more source

Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort

Clinical Genetics, Volume 108, Issue 5, Page 532-552, November 2025.
This study analyzes 94 IRD patients from a Turkish cohort using a 141‐gene NGS panel, achieving a 74% diagnostic yield. The identification of 28 novel variants highlights the genetic diversity of IRDs in Türkiye and underscores the value of population‐specific molecular testing.
Şenol Demir, Esra Arslan Ateş, Orkun Sevik, Bengisu Sözer, Tuğba Köse, Özlem Şahin, Ahmet Arman, Bilgen Bilge Geçkinli   +7 more
wiley   +1 more source

The novel ITPR1 p.Phe2566Ser variant impairs IP3R1‐mediated Ca2+ release and is associated with ataxia and miosis

Journal of Internal Medicine, Volume 299, Issue 5, Page 643-648, May 2026.
Josephine Wincent, Songbai Zhang, Andrew Nolan, Shigeaki Kanatani, Frida Nordin, Malin Kvarnung, Per Uhlén, Martin Paucar, Ilse Eidhof   +8 more
wiley   +1 more source

Altered Ocular Surface Temperature in Congenital Aniridia with PAX6 Pathogenic Variants: Impact of Age, Salzmann Nodules and Ocular Surgery

Life
PAX6 haploinsufficiency-related congenital aniridia is frequently associated with ocular surface disease, including meibomian gland dysfunction (MGD), dry eye, limbal stem cell deficiency (LSCD), aniridia-associated keratopathy (AAK), and inflammation ...
Orsolya Németh, Annamária Náray, Mária Csidey, Klaudia Kéki-Kovács, Krisztina Knézy, Mária Bausz, Andrea Szigeti, Anita Csorba, Kitti Kormányos, Ditta Zobor, Zoltán Zsolt Nagy, Marta Cortón, Eszter Jávorszky, Kálmán Tory, Erika Maka, Timo Eppig, Achim Langenbucher, Nóra Szentmáry   +17 more
doaj   +1 more source

Fluctuations in angle lambda with the pupil diameter and correlations with biometric values in a healthy population

Ophthalmic and Physiological Optics, Volume 45, Issue 7, Page 1837-1844, November 2025.
Abstract Purpose Angle lambda (λ) is defined as the angle between the line of sight and the pupillary axis at the entrance pupil. We previously developed a child‐friendly and portable method to measure this angle in daily practice. In a given population, angle λ fluctuates according to age or refractive error.
Maxence Rateaux, Alienor Vienne‐Jumeau, Dominique Bremond‐Gignac, Matthieu P. Robert   +3 more
wiley   +1 more source

Identification of Genetic Variants Causing Paediatric Cataract in Myanmar

Clinical Genetics, Volume 108, Issue 4, Page 457-462, October 2025.
Up to 60% of children with cataract in Myanmar have a causative variant in a known cataract gene. This is a similar rate to other populations screened to date, but highlights that there are more cataract genes left to identify. ABSTRACT Genetic testing for paediatric cataract detects a cause in 50%–70% of affected children but is as low as 20% in some ...
Johanna L. Jones, Daisy Boardman, Khine Nweni, Franoli Edo, Isabelly M. Barros de Lima, Pakdhipat Lertsinpakdee, Soe Hlaing, Robert Casson, Ashwin Mallipatna, Ye Win, Bennet McComish, Naing Lin, James Muecke, Andy Griffiths, Martin Holmes, Than Htun Aung, Kathryn P. Burdon   +16 more
wiley   +1 more source

Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia

Frontiers in Genetics, 2018
Mutations in PAX6 are involved in several developmental eye disorders. These disorders have considerable phenotypic variability, ranging from panocular forms of congenital aniridia and microphthalmia to isolated anomalies of the anterior or posterior ...
María Tarilonte, Matías Morín, Matías Morín, Patricia Ramos, Marta Galdós, Fiona Blanco-Kelly, Fiona Blanco-Kelly, Cristina Villaverde, Cristina Villaverde, Dolores Rey-Zamora, Gema Rebolleda, Francisco J. Muñoz-Negrete, Saoud Tahsin-Swafiri, Saoud Tahsin-Swafiri, Blanca Gener, Blanca Gener, Miguel-Angel Moreno-Pelayo, Miguel-Angel Moreno-Pelayo, Carmen Ayuso, Carmen Ayuso, Manuela Villamar, Manuela Villamar, Marta Corton, Marta Corton   +23 more
doaj   +1 more source