Results 61 to 70 of about 3,282 (209)

Unilateral isolated macular coloboma with full-thickness macular hole—Case report

Indian Journal of Ophthalmology - Case Reports, 2023
Coloboma is a very rare developmental anomaly. The most common form is retinochoroidal coloboma. Macular coloboma is a very rare occurrence. We describe a rare case of unilateral isolated macular coloboma with full-thickness macular hole.
Gazal Patnaik, Debmalya Das, Raghulnadhan Ramanadhane, Nikita Geol   +3 more
openaire   +1 more source

Epidermal Nevi and Epidermal Naevus Syndromes

JEADV Clinical Practice, Volume 4, Issue 3, Page 669-680, August 2025.
ABSTRACT Epidermal nevi (EN) arise from postzygotic variants in ectoderm‐derived cell lines, such as keratinocytes and cells forming adnexa. EN may be present alone without any associated abnormality or be part of a syndrome. In this review, we will discuss about the clinical and genetics of the main types of EN and related syndromes.
Gianluca Tadini, Beatrice Carcano, Michela Brena   +2 more
wiley   +1 more source

Síndrome de Michaelis-Manz. A propósito de un caso clínico

Anales del Sistema Sanitario de Navarra, 2018
El síndrome de Michaelis-Manz es una tubulopatía de herencia autosómica recesiva asociada a mutaciones en las proteínas claudina 16 y 19 que se encuentran en el túbulo contorneado distal y asa de Henle en el riñón.
P. Plaza-Ramos, L. Tabuenca-Del Barrio, A. Zubicoa-Eneriz, B. Goldaracena-Tanco   +3 more
doaj   +1 more source

Neurozika, de las ciencias básicas a la práctica clínica. Revisión de la literatura

Acta Neurológica Colombiana, 2021
El virus del zika (VZ) hace parte de la familia Flaviviridae y de los Spondweni serocomplejo; es transmitido principalmente por la familia de vectores Aedes. El primer reporte de una enfermedad exantemática desconocida fue llevado a cabo en Brasil en el
Harry Pachajoa, Yuri Takeuchi Tan, Andres Zea, Estephania Candelo, Valeria Valencia, Juan Contreras, Akemi Arango   +6 more
doaj   +1 more source

A Synthetic Transcriptional Activator of Genes Associated with the Retina in Human Dermal Fibroblasts. [PDF]

, 2015
Small molecules capable of modulating epigenetic signatures can activate the transcription of tissue-restricted genes in a totally unrelated cell type and have potential use in epigenetic therapy.
Bando, Toshikazu, Chandran, Anandhakumar, Hashiya, Kaori, Kashiwazaki, Gengo, Pandian, Ganesh N, Sato, Shinsuke, Sugiyama, Hiroshi, Syed, Junetha, Taniguchi, Junichi   +8 more
core   +1 more source

Correlation of Structure With Function: Future Utilities for Optical Coherence Tomography Angiography in Neuro‐Ophthalmology

Clinical &Experimental Ophthalmology, Volume 53, Issue 6, Page 682-697, August 2025.
ABSTRACT Optical coherence tomography angiography is a burgeoning imaging modality in Ophthalmology. In this review, we outline the breadth of potential utility for optical coherence tomography angiography for diagnosis and prognostication in neuro‐ophthalmology.
Marzieh Tahmasebi Sarvestani, Sudha Cugati, Celia Chen   +2 more
wiley   +1 more source

A Developmental Model of Infantile Nystagmus [PDF]

, 2006
The possibility that infantile nystagmus (IN) may reflect a failure in early sensorimotor integration has been proposed for more than a century, but is only recently being borne out in animal studies.
Berry, David L., Harris, Christopher M.
core   +1 more source

Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders

Clinical Genetics, Volume 108, Issue 1, Page 14-21, July 2025.
Inherited retinal diseases (IRDs) are a leading cause of vision loss, with an incidence of 1:2000. In this study of 50 Turkish patients, next‐generation sequencing identified pathogenic variants in 58%, including novel variants in six genes. This research enhances genetic understanding and supports improved diagnostics and treatments for IRDs ...
Cuneyd Yavas, Yunus Emre Arvas, Mustafa Dogan, Alper Gezdirici, Elif Sibel Aslan, Murat Karapapak, Savas Barıs, Recep Eroz   +7 more
wiley   +1 more source

MiR-211 is essential for adult cone photoreceptor maintenance and visual function. [PDF]

, 2017
MicroRNAs (miRNAs) are key post-transcriptional regulators of gene expression that play an important role in the control of fundamental biological processes in both physiological and pathological conditions.
Asteriti, Sabrina, Banfi, Sandro, Barbato, Sara, Bhat, Rajeshwari S., Cangiano, Lorenzo, Carissimo, Annamaria, Conte, Ivan, CONTE, IVAN, Falanga, Danila, Intartaglia, Daniela, Karali, Marianthi, Marrocco, Elena, Meola, Nicola, Naso, Federica, Pizzo, Mariateresa, Prosser, Haydn M., Surace, Enrico Maria   +16 more
core   +3 more sources

Coloboma macular atípico: a propósito de un caso [PDF]

Archivos de la Sociedad Española de Oftalmología, 2006
Caso clínico: Un niño de un año y cinco meses de edad con lesiones coriorretinianas maculares en ambos ojos, cuya madre tuvo la varicela durante el embarazo. Discusión: Las cicatrices son sugestivas de retinocoroiditis infecciosa congénita, pero por las serologías negativas y sus características clínicas, consideramos que se trata de colobomas ...
López-García, J.C., Buesa-Gómez, J., Pardo-Saiz, A., Callizo-Tomás, J.   +3 more
openaire   +3 more sources