Results 81 to 90 of about 2,635 (188)

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

Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 196, Issue 4, December 2024.
Abstract COL4A1/2 variants are associated with highly variable multiorgan manifestations. Depicting the whole clinical spectrum of COL4A1/2‐related manifestations is challenging, and there is no consensus on management and preventative strategies. Based on a systematic review of current evidence on COL4A1/2‐related disease, we developed a clinical ...
Simone Gasparini, Simona Balestrini, Luigi Francesco Saccaro, Giacomo Bacci, Giorgia Panichella, Martino Montomoli, Gaetano Cantalupo, Stefania Bigoni, Giorgia Mancano, Simona Pellacani, Vincenzo Leuzzi, Nila Volpi, Francesco Mari, Federico Melani, Mara Cavallin, Tiziana Pisano, Giulio Porcedda, Augusto Vaglio, Davide Mei, Carmen Barba, Elena Parrini, Renzo Guerrini   +21 more
wiley   +1 more source

Persistência de vítreo primário hiperplásico posterior Posterior persistent hyperplastic primary vitreous

Revista Brasileira de Oftalmologia, 2007
Relato de um caso de persistência de vítreo primário hiperplásico posterior(PVPH) em um paciente de nove anos, com baixa acuidade visual em olho esquerdo, encaminhado pela escola para avaliação oftalmológica.
Viviane Maria Xavier Ferreira Sousa, Gilberto da Silva Sousa   +1 more
doaj   +1 more source

Prevalence of Congenital Ocular Anomalies in 15 Countries of Europe: Results From the Medikeye Study

Birth Defects Research, Volume 116, Issue 11, November 2024.
ABSTRACT Background Congenital ocular anomalies (COA) are among the most common causes of visual impairment in children in high‐income countries. The aim of the study is to describe the prevalence of the various COA recorded in European population‐based registries of CA (EUROCAT) participating in the EUROmediCAT consortium.
Charlotte Dubucs, Anthony Caillet, Félix Frémont, Laurane Delteil, Van N'Go, Amanda Julie Neville, Elisa Ballardini, Helen Dolk, Maria Loane, Ester Garne, Babak Khoshnood, Nathalie Lelong, Anke Rissmann, Mary O'Mahony, Anna Pierini, Miriam Gatt, Jorieke Bergman, Maciej Robert Krawczynski, Anna Latos Bielenska, Luis Javier Echevarría González de Garibay, Clara Cavero‐Carbonell, Marie‐Claude Addor, David Tucker, Sue Jordan, Elly Den Hond, Vera Nelen, Ingeborg Barisic, Florence Rouget, Hanitra Randrianaivo, Jonathan Hoareau, Isabelle Perthus, Caroline Hurault‐Delarue, Monique Courtade‐Saïdi, Christine Damase‐Michel   +33 more
wiley   +1 more source

Typical coloboma associated with anterior chamber cleavage syndrome, and microcornea: description of one case [PDF]

, 2004
The authors describe a rare association of bilateral typical coloboma, microcornea and anterior chamber cleavage deficience. They also discuss the embriology and the difficulties to identify if the continuous and insidious vision impairment is due to ...
Neustein, Isaac, Vlainich, Ana Regina Cruz, Allemann, Norma [UNIFESP]   +2 more
core   +1 more source

Increasing βB1-crystallin sensitivity to proteolysis caused by the congenital cataract-microcornea syndrome mutation S129R [PDF]

, 2013
Congenital hereditary cataract, which is mainly caused by the deposition of crystallins in light-scattering particles, is one of the leading causes of newborn blindness in human beings.
Yan, Yong-Bin, Gong, Haipeng, Wang, Sha, Liu, Huihui, Zhao, Wei-Jie   +4 more
core   +1 more source

Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans. [PDF]

Hum Genet
Ocular coloboma (OC) is a congenital disorder caused by the incomplete closure of the embryonic ocular fissure. OC can present as a simple anomaly or, in more complex forms, be associated with additional ocular abnormalities. It can occur in isolation or
Cortés-González V, Rodriguez-Morales M, Ataliotis P, Mayer C, Plaisancié J, Chassaing N, Lee H, Rozet JM, Cavodeassi F, Fares Taie L.   +9 more
europepmc   +2 more sources

Ophthalmological manifestations of the Schuurs-Hoeijmakers syndrome: a case report

, 2022
This is a case report of a 2-year-old male patient with cognitive delay, facial abnormalities, and microcornea in the right eye, who was referred for ophthalmological investigation.
Alline Martins (12684243), Mariana W. de Barros e Silva (12684240), Analine L. de Medeiros (12684246), Adriano de Vasconcelos (12684249), Camila V. Ventura (5563484)   +4 more
core   +1 more source

Microcornea and Thickened Lens in Angle Closure following Nonsurgical Treatment of Retinopathy of Prematurity

, 2020
Purpose. To characterize the clinical features in young patients with angle closure and to determine the characteristics associated with acquired anterior segment abnormality following retinopathy of prematurity (ROP) treatment. Methods. We performed two
Cernichiaro-Espinosa, Linda A, Abou Shousha, Mohamed F, Mohamed F. Abou Shousha, Kimberly D. Tran, Ta C. Chang, Linda A. Cernichiaro-Espinosa, Elizabeth A. Hodapp, Alana L. Grajewski, Audina M. Berrocal, Ella H. Leung, Chang, Ta C, Hodapp, Elizabeth A, Leung, Ella H, Grajewski, Alana L, Berrocal, Audina M, Tran, Kimberly D   +15 more
core   +1 more source

Study of A Family with Clinical Features and Inheritance Pattern of Nance Horan Syndrome

Delhi Journal of Ophthalmology, 2018
Congenital cataract has various modes of inheritance. In Nance Horan syndrome, X linked recessive pattern of inheritance of congenital cataract is seen. Protein truncation mutation in an NHS gene located on Xp21.2-p22.3.
Sonal Patil, Kalpna Jain, Jaishri Murli Manoher, Vimla Beniwal   +3 more
doaj   +1 more source