Results 41 to 50 of about 18,407 (215)

Exploring fundus‐controlled mesopic and scotopic perimetry in inherited retinal disease

Acta Ophthalmologica, Volume 104, Issue 7, Page e832-e840, November 2026.
Abstract Purpose Microperimetry is increasingly used as an outcome measure in clinical trials for retinal disease. This study compares mesopic and scotopic microperimetry in a heterogeneous cohort of patients with inherited retinal disease to assess their suitability as clinical trial outcome measures and to determine the most appropriate testing ...
Laura J. Taylor, Amandeep S. Josan, Daniel A O Adeyoju, Isabella Farrance, Robert E. MacLaren   +4 more
wiley   +1 more source

Carotid Artery and Amaurosis

, 2022
Dr.
Andrew G. Lee, MD; Elijah Li
core  

Amaurosis cortical aguda secundaria a preeclampsia

, 2020
La amaurosis cortical aguda es una complicacióndramática y poco común de la preeclampsia. Se presentaun caso de paciente de 29 años con diagnóstico depreeclampsia grave quien describió deterioro de la ...
Aragón-Charry, Drs. Jhoan, Reyna-Villasmil, Eduardo, Santos-Bolívar, Joel Santos-Bolívar   +2 more
core   +1 more source

Headaches with ocular localization and involvement Cefaleas de localización y compromiso oculares

Iatreia, 2005
The most frequent primary headaches, including migraine variants, and intrinsic optic nerve disorders that produce headache, are reviewed. The latter are often accompanied by autonomic nervous system alterations which lead to vasomotor changes ...
Marta Lucía Muñoz Cardona, Dionis Magnary Vallejo Mesa, José David Paulo Trujillo, Rodrigo Alberto Isaza Bermúdez   +3 more
doaj  

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2181-2198, October 2026.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial

, 2014
Background: Choroideremia is an X-linked recessive disease that leads to blindness due to mutations in the CHM gene, which encodes the Rab escort protein 1 (REP1).
During, MJ, Reed Clark, K., Maclaren, Robert, Tolmachova, Tanya, Black, G.C.M., Seabra, Miguel C., Cottriall, Charles L., Groppe, M, Tolmachova, T, Black, Graeme C M, MacLaren, RE, Groppe, Markus, During, M.J., Reed Clark, K, Webster, A.R., Lotery, AJ, Barnard, Alun, Cremers, FPM, Clark, KR, MacLaren, Robert E., Cottriall, C.L., Downes, SM, Webster, AR, Seabra, MC, Cremers, Frans P M, Seymour, Len, Black, GCM, Downes, S.M., Seymour, L, Cottriall, CL, Cremers, F.P.M., Black, G.C., Clark, K., Seabra, M.C., Cremers, F.P., Groppe, M., Barnard, A.R., Barnard, AR, During, Matthew J., Black, GC, Lotery, Andrew J., Downes, Susan M., Seymour, L., Webster, Andrew R., MacLaren, R.E., Downes, Susan, Cremers, FP, Tolmachova, T., Lotery, A.J., Barnard, Alun R.   +49 more
core   +1 more source

Genetic testing for Leber congenital amaurosis

The EuroBiotech Journal, 2017
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Leber congenital amaurosis (LCA).
Abeshi Andi, Coppola Pamela, Beccari Tommaso, Dundar Munis, Falsini Benedetto, Bertelli Matteo   +5 more
doaj   +1 more source

Long Term Follow Up of Hereditary Thrombotic Thrombocytopenic Purpura on Plasma Therapy for 9 Years: A Case Report

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT A 7.6‐year‐old boy with hTTP had fever‐induced hemorrhagic rash, MAHA, cerebral infarction, and renal impairment. After plasma therapy, symptoms were partially relieved; 9‐year follow‐up showed regular plasma transfusion was needed, with CKD Stage 3.
Dai Xiaomei, Chen Ruyue, Wu Shuang, Tang Hanyun, Lin Qiang, Li Xiaozhong   +5 more
wiley   +1 more source

Lebers Amaurosis in Three Siblings: A case report [PDF]

, 2008
This case report appears to be first reported incident of Lebers congenital amaurosis in three siblings in Kaduna State. Genetic issues, clinical presentation, counselling, treatment and future progression of this irreversible blinding condition are ...
Samaila, E, E Samaila, T Ndife, Mahmud-Ajeigbe, AF, AF Mahmud-Ajeigbe, Ndife, T   +5 more
core   +1 more source

Novel gene variants in Polish patients with Leber congenital amaurosis (LCA)

Orphanet Journal of Rare Diseases, 2020
Background Leber congenital amaurosis (LCA) is a rare retinal disease that is the most frequent cause of congenital blindness in children and the most severe form of inherited retinal dystrophies.
Anna Skorczyk-Werner, Zuzanna Niedziela, Marcin Stopa, Maciej Robert Krawczyński   +3 more
doaj   +1 more source