Genetics and genetic testing for age-related macular degeneration

A Warwick, A Lotery - Eye, 2018 - nature.com
Considerable advances have been made in our understanding of age-related macular
degeneration (AMD) genetics over the past decade. The genetic associations discovered to …

Sorsby fundus dystrophy–a review of pathology and disease mechanisms

DRG Christensen, FE Brown, AJ Cree… - Experimental eye …, 2017 - Elsevier
Sorsby fundus dystrophy (SFD) is an autosomal dominant macular dystrophy with an
estimated prevalence of 1 in 220,000 and an onset of disease around the 4th to 6th decade …

Genetic aspects of age-related macular degeneration and their therapeutic potential

E Stradiotto, D Allegrini, G Fossati, R Raimondi… - International Journal of …, 2022 - mdpi.com
Age-related macular degeneration (AMD) is a complex and multifactorial disease, resulting
from the interaction of environmental and genetic factors. The continuous discovery of …

[HTML][HTML] Genetic insights into age-related macular degeneration

Bhumika, NS Bora, PS Bora - Biomedicines, 2024 - mdpi.com
One of the major causes of vision impairment among elderly people in developed nations is
age-related macular degeneration (AMD). The distinctive features of AMD are the …

The Diverse Roles of TIMP-3: Insights into degenerative diseases of the senescent retina and brain

JM Dewing, RO Carare, AJ Lotery, JA Ratnayaka - Cells, 2019 - mdpi.com
Tissue inhibitor of metalloproteinase-3 (TIMP-3) is a component of the extracellular
environment, where it mediates diverse processes including matrix regulation/turnover …

Sorsby fundus dystrophy (SFD): A narrative review

G Tsokolas - Medicine, 2022 - journals.lww.com
Sorsby fundus dystrophy (SFD) is a rare autosomal dominant disorder with complete
penetrance affecting the macula. This is caused by a mutation in the TIMP-3. This objective …

Bruch's membrane pathology: a mechanistic perspective

A Murali, S Krishnakumar… - European journal of …, 2020 - journals.sagepub.com
Bruch's membrane, an extracellular matrix located between the retinal pigment epithelium
and the choroid, plays a vital role as structural and functional support to the retinal pigment …

In vitro maturation of retinal pigment epithelium is essential for maintaining high expression of key functional genes

A Al-Ani, S Sunba, B Hafeez, D Toms… - International journal of …, 2020 - mdpi.com
Age-related macular degeneration (AMD) is the leading cause of blindness in the
industrialized world. AMD is associated with dysfunction and atrophy of the retinal pigment …

Potential CRISPR Base Editing Therapeutic Options in a Sorsby Fundus Dystrophy Patient

MEAA Elsayed, M Kaukonen, P Kiraly, JC Kapetanovic… - Genes, 2022 - mdpi.com
TIMP3 mutations are associated with early-onset macular choroidal neovascularisation for
which no treatment currently exists. CRISPR base editing, with its ability to irreversibly …

Predictive genetics for AMD: Hype and hopes for genetics-based strategies for treatment and prevention

MB Gorin - Experimental eye research, 2020 - Elsevier
Age-related macular degeneration (AMD) is a complex disease with multiple genetic and
environmental risk factors. In the age of molecular genetics, many investigators have …