Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma

DS Mackay, TM Bennett, A Shiels - PloS one, 2015 - journals.plos.org
Primary open-angle glaucoma (POAG) is a clinically important and genetically
heterogeneous cause of progressive vision loss as a result of retinal ganglion cell death …

A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic …

OF Chacon‐Camacho, T Ordaz‐Robles… - American journal of …, 2024 - Wiley Online Library
Doyne honeycomb retinal dystrophy (DHRD), also termed malattia leventinese (MLVT), is a
dominantly inherited ocular disease characterized by the progressive accumulation of …

[HTML][HTML] Sex distributions in Non-ABCA4 autosomal macular dystrophies

AV Mishra, S Vermeirsch, S Lin… - … & Visual Science, 2024 - tvst.arvojournals.org
Purpose: We sought to explore whether sex imbalances are discernible in several
autosomally inherited macular dystrophies. Methods: We searched the electronic patient …

Doyne honeycomb retinal dystrophy/malattia leventinese induced by EFEMP1 mutation in a Chinese family

K Zhang, X Sun, Y Chen, Q Zhong, L Lin, Y Gao… - BMC …, 2018 - Springer
Background Doyne honeycomb retinal dystrophy (DHRD)/malattia leventinese (ML) is a rare
allelic condition with massive drusen in the posterior fundus caused by EFEMP1 gene …

The second Japanese family with Malattia Leventinese/Doyne honeycomb retinal dystrophy

N Enomoto, T Hayashi, T Matsuura, K Tanaka… - Documenta …, 2022 - Springer
Purpose To describe the clinical and genetic findings of patients in the second Japanese
family with Malattia Leventinese/Doyne honeycomb retinal dystrophy (ML/DHRD). Methods …

Diagnostic definition of malattia leventinese in a family from Colombia

N Gelvez, P Hurtado-Villa, S Flórez, AC Brieke… - Biomedica, 2021 - scielo.org.co
Diagnostic definition of malattia leventinese in a family from Colombia SciELO - Scientific
Electronic Library Online vol.41 issue3 Langerhans cell histiocytosis: Case report and literature …

Elastogenesis-related gene polymorphisms and the risk of pelvic organ prolapse development

MB Khadzhiev, SV Kamoeva, AV Ivanova… - Russian Journal of …, 2015 - Springer
Pelvic organ prolapse (POP) represents a urologic and gynecological disease, the
development of which is governed both by environmental and genetic factors. We describe …

Полиморфизм генов, контролирующих процессы эластогенеза, и риск развития пролапса тазовых органов у женщин

МБ Хаджиева, СВ Камоева, АВ Иванова, СК Абилев… - Генетика, 2015 - elibrary.ru
Пролапс тазовых органов (ПТО) урогинекологическое заболевание, в развитии
которого участвуют как средовые, так и генетические факторы. В статье отражены …

Malattia Leventinese (autosomal dominant drusen)

V Vaclavik, FL Munier - Macular Dystrophies, 2016 - Springer
Malattia Leventinese, also known as dominant radial drusen or Doyne honeycomb retinal
dystrophy, was first described in patients living in the Leventine Valley in canton Ticino of …

Age-related macular degeneration masqueraders: From the obvious to the obscure

M Paez-Escamilla, M Jhingan, DS Gallagher… - Survey of …, 2021 - Elsevier
Age-related macular degeneration (AMD) is one of the leading causes of blindness
worldwide with increasing prevalence owing to increased life expectancy. Intravitreal …