Results 71 to 80 of about 69,784 (157)

Familial Disorders of the Optic Disc: Presentation of a Mother and Daughter and Review of the Literature

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

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

Assessing Splicing Variants in the PAX6 Gene: A Comprehensive Minigene Approach

Journal of Cellular and Molecular Medicine, Volume 29, Issue 6, March 2025.
ABSTRACT Haploinsufficiency of the PAX6 gene causes aniridia, a congenital eye disorder characterised by the absence or malformation of the iris and foveal hypoplasia. Previous studies indicate that pathogenic splice variants account for up to 15% of all disease‐causing PAX6 variants. However, this proportion may be significantly underestimated because
Kseniya Davydenko, Alexandra Filatova, Mikhail Skoblov   +2 more
wiley   +1 more source

Internal limiting membrane peeling versus no peeling for idiopathic full-thickness macular hole: a pragmatic randomized controlled trial [PDF]

, 2011
<p>Purpose: To determine whether internal limiting membrane (ILM) peeling is effective and cost effective compared with no peeling in patients with idiopathic stage 2 or 3 full-thickness maculay hole (FTMH).</p> <p>Methods: This was ...
Cook, Jonathan, Vale, L., Vale, Luke, Noemi Lois, Ternent, L., Full-thickness Macular Hole and Internal Limiting Membrane Peeling Study (FILMS) Group, McDonald, A, Cook, J, Full-Thickness Macular Hole, McPherson, G., McPherson, Gladys, Jennifer Burr, Burr, J., McDonald, A., Lois, N., Cook, J., McDonald, Alison, John Norrie, Boachie, Charles, Vale, L, Burr, Jennifer Margaret, Alison McDonald, Lois, N, Gladys McPherson, Laura Ternent, Charles Boachie, Ternent, L, McPherson, G, Ternent, Laura, Norrie, J, Luke Vale, Norrie, J., Boachie, C., Lois, Noemi, Burr, J, Boachie, C, Norrie, John, Jonathan Cook   +37 more
core   +1 more source

X‐Linked Bilateral Polymicrogyria With Epilepsy and Intellectual Disability Associated With a Novel KIF4A Variant

American Journal of Medical Genetics Part A, Volume 197, Issue 1, January 2025.
ABSTRACT We studied three brothers and a maternal half‐brother featuring global developmental delay, mild to moderate intellectual disability, epilepsy, microcephaly, and strabismus. All had bilateral perisylvian and perirolandic polymicrogyria, while some also had malformations of the hippocampus (malrotation and dysplasia), cerebellum (heterotopias ...
Naomi Laflamme, Valérie Triassi, Laurence Martineau, Dènahin Hinnoutondji Toffa, Laurent Létourneau‐Guillon, Annie Laplante, Patrick Cossette, Éric Samarut, Martine Tétreault, Dang Khoa Nguyen   +9 more
wiley   +1 more source

Amniotic membrane placement without endotamponade for optic nerve coloboma with extensive serous retinal detachment in papillorenal syndrome: A case report

American Journal of Ophthalmology Case Reports
Purpose: To report a rare case of serous macular detachment associated with optic nerve coloboma in a patient with genetically confirmed papillorenal syndrome, successfully treated with human amniotic membrane transplantation (hAMT) without endotamponade
Sara Lucchini, Elisa Carini, Elias Premi, Stefano Ranno, Andrea Govetto, Paolo Radice   +5 more
doaj   +1 more source

Structural basis for complement factor H-linked age-related macular degeneration [PDF]

, 2007
Nearly 50 million people worldwide suffer from age-related macular degeneration (AMD), which causes severe loss of central vision. A single-nucleotide polymorphism in the gene for the complement regulator factor H (FH), which causes a Tyr-to-His ...
Pietro Roversi, Clark, S, Robert B. Sim, Susan M. Lea, Jowitt, Thomas A., Beverly E. Prosser, Prosser, Beverly E., Prosser, B, Day, Anthony J., Herbert, AP, Dušan Uhrín, Sim, Robert B., Uhrin, Dusan, Barlow, P, Johnson, S, Lea, SM, Steven Johnson, Blaum, Barbel S., Barlow, Paul N., Herbert, A, Barlow, PN, Sim, RB, Simon J. Clark, Roversi, P, Uhrín, D, Johnson, Steven, Thomas A. Jowitt, Day, A, Jowitt, Thomas A.; id_orcid, Edward Tarelli, Jess Tyrrell, Lea, Susan M., Tyrrell, J, Blaum, BS, Herbert, Andrew P., Clark, Simon J., Tyrrell, Jess, Day, Anthony J.; id_orcid, Lea, Susan, Tarelli, E, Clark, SJ, Paul N. Barlow, Bärbel S. Blaum, Clark, Simon; id_orcid, Tarelli, Edward, Prosser, BE, Jowitt, TA, Day, AJ, Andrew P. Herbert, Roversi, Pietro, Anthony J. Day   +50 more
core   +1 more source

Macular thickness and macular volume measurements using spectral domain optical coherence tomography in normal Nepalese eyes [PDF]

, 2016
Amrit Pokharel,1 Gauri Shankar Shrestha,2 Jyoti Baba Shrestha2 1Department of Ophthalmology, Kathmandu Medical College Teaching Hospital, 2B P Koirala Lions Centre for Ophthalmic Studies, Institute of Medicine, Kathmandu, Nepal Purpose: To record the ...
Pokharel, A, Pokharel A, Shrestha JB, Shrestha GS, Shrestha, JB, Shrestha, GS ; https://orcid.org/   +5 more
core   +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  

Ligneous conjunctivitis in a patient of juvenile colloid milia: A rare association

Indian Journal of Ophthalmology, 2015
We present to you, case of a 10-year-old female with h/o redness, watering since 8 months. Her vision was 20/30 in right eye and 20/70 in left eye. Conjunctiva had plenty of purulent discharge and palpebral conjunctiva was studded with membranous lesions.
Shubhangi Sudhir Bhave, Sanyogita Swapnil Joshi   +1 more
doaj   +1 more source