Results 91 to 100 of about 3,282 (209)

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations [PDF]

, 2013
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR) (MIM No.152950) is a rare autosomal dominant condition for which a causative gene has recently been identified.
AL Jarmas, Angela F Brady, Anthony T Moore, Barbara Mikat, BJ Lee, C Limwongse, C Prattichizzo, CG Woods, Christine Coubes, D Abuelo, DA Custer, Dagmar Wieczorek, Denise Williams, EG Puffenberger, F Hazan, FC Connell, Filiz Hazan, Fiona C Connell, Florence Petit, Gabriela E Jones, Glen Brice, GM Abdel-Salam, H Dolk, I Casteels, ID Young, Isabel Spier, KM Trzupek, Kristiana Gordon, LO Atchaneeyasakul, M Baraitser, M Feingold, N Pastora, Oana Moldovan, Oliver Quarrell, P Ostergaard, PC Vasudevan, Peter S Mortimer, Pia Ostergaard, Pradeep C Vasudevan, Q Zhao, R Hordijk, RM Winter, Robert A Saul, S Eventov-Friedman, S Strenge, Sahar Mansour, Steve Jeffery, VA McKusick, WF Milroy   +48 more
core   +1 more source

Aetiology and epidemiology of surgical vitreoretinal presentations in an Australian paediatric population: A seven‐year retrospective study

Clinical &Experimental Ophthalmology, Volume 52, Issue 8, Page 861-869, November 2024.
Abstract Background Paediatric vitreoretinal pathology is distinct from adult cases in both presentation and surgical planning. Here we aim to report the aetiology and epidemiology in children 0–18 years requiring vitreoretinal surgery at a major tertiary paediatric hospital in Queensland, Australia.
Amelia Bai, Abhishek Sharma, Mark Chiang, Lawrence Lee   +3 more
wiley   +1 more source

Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literature

Clinical Genetics, Volume 106, Issue 4, Page 413-426, October 2024.
We review MPDZ genetic variants in 18 patients and additional cases from four new families, confirming a range of conditions including hydrocephaly and hearing loss, while introducing a new association with spasticity. A murine model confirms severe hearing impairment, broadening the spectrum of MPDZ‐related diseases. Abstract MPDZ, a gene with diverse
Aboulfazl Rad, Oliver Bartsch, Somayeh Bakhtiari, Changlian Zhu, Yiran Xu, Fabíola P. Monteiro, Fernando Kok, Anneke T. Vulto‐van Silfhout, Michael C. Kruer, Michael R. Bowl, Barbara Vona   +10 more
wiley   +1 more source

Presentación de tres casos de distrofia macular de North Carolina Presentation of three cases with North Carolina macular dystrophy

Revista Cubana de Oftalmología, 2012
Se presentan las características oftalmológicas de tres pacientes, dos hermanos varones y su padre con diagnóstico de distrofia macular de North Carolina. Este es un trastorno genético que produce degeneración macular congénita o de inicio precoz.
Mavys Soto García, Yusimik Toledo González, Violeta Rodríguez Rodríguez, Rafael Ernesto González Díaz, Araceli Carrasco Guzmán, Eva Rossana Santana Alas   +5 more
doaj  

Congenital toxoplasmosis as one phenocopy of North Carolina Macular Dystrophy (NCMD/MCDR1)

American Journal of Ophthalmology Case Reports, 2019
Purpose: To highlight the striking similarities between the lesions of congenital toxoplasmosis (CT) and North Carolina Macular Dystrophy (NCMD) using multimodal imaging including spectral domain optical coherence tomography (SD-OCT).
Kent W. Small, MD, Andrea L. Vincent, MBChB, MD, Chelsey L. Knapper, DO, Fadi S. Shaya, BS   +3 more
doaj   +1 more source

Genetics and Eyecare [PDF]

Most, if not all, diseases have an underlying genetic contribution, therefore all clinicians, as health care providers, must have a basic understanding of genetics and competency to care and educate patients on their diseases, especially diseases with
Champion, Bobby, Diep, Vivian, Hua, Len, Picklyk, Cayla, Robillard, Collin, Slagle, Caroline   +5 more
core   +1 more source

Sturge-Weber syndrome: a report of 14 cases [PDF]

, 2013
Sturge-Weber-Krabe syndrome (SWS), also known as encephalotrigeminalangiomatosis and named the forthfacomatosis, recall the names of the authors who first describedit in its basic clinical, radiological andanatomopathological aspects. We report here
Carotenuto, M, Di Filippo, T, EPIFANIO, Maria Stella, Esposito, M, LA GRUTTA, Sabina, LO BAIDO, Rosa, PARISI, Lucia, ROCCELLA, Michele   +7 more
core   +2 more sources

Autozygome‐guided exome‐first study in a consanguineous cohort with early‐onset retinal disease uncovers an isolated RIMS2 phenotype and a retina‐enriched RIMS2 isoform

Clinical Genetics, Volume 106, Issue 2, Page 127-139, August 2024.
Autozygome‐guided whole exome sequencing (WES) in Saudi families with early‐onset inherited retinal disease revealed a diagnosis in 73%. Genotype‐driven clinical reclassifications showed a novel genotype–phenotype association for non‐syndromic RIMS2‐IRD.
Marta Del Pozo‐Valero, Basamat Almoallem, Alfredo Dueñas Rey, Quinten Mahieu, Mattias Van Heetvelde, Laila Jeddawi, Miriam Bauwens, Elfride De Baere   +7 more
wiley   +1 more source

Two Cases of Hallermann-Streiff Syndrome with Retinal Abnormalities [PDF]

, 2018
Hallermann-Streiff syndrome is a rare congenital disorder that is characterized by malformations of the craniofacial region with ocular abnormalities. Some ophthalmic signs can be observed in early age and some in adulthood.
Bausz Mária, Lukáts Olga, Maka Erika, Nagy Zoltán Zsolt, Resch Miklós   +4 more
core   +1 more source

Ocular abnormalities in congenital Zika syndrome: a case report, and review of the literature

Journal of Medical Case Reports, 2018
Background As the number of children with Zika virus-related complications grows, the long-term developmental trajectory and its effects on families are unknown.
Jade Gieseke Guevara, Swati Agarwal-Sinha   +1 more
doaj   +1 more source