Vision Loss News and Research

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Researchers Provide Genetic Diagnosis for 30 Long-Term Undiagnosed Cases

An international team of researchers has provided a genetic diagnosis for 30 individuals whose condition was undiagnosed for years despite extensive clinical or genetic testing.

11 Nov 2024

Impact of Rare Disease Mutation Could Extend to More Prevalent Conditions

REX1 is a gene that is meant to direct the maintenance of the entire body’s DNA, but new research shows that when people are born with mutated TREX1, the DNA suffers catastrophic damage over time, resulting in a deadly rare disease known as retinal vasculopathy with cerebral leukoencephalopathy (RVCL).

5 Jun 2024

Brain Organoids Emerge as Powerful Tool for Drug Discovery in Mitochondrial Disease

The use of brain organoids in screening for drugs against mitochondrial diseases, which have hitherto presented challenges in treatment.

4 Jun 2024

LambdaVision Aims to Refine Process for In-Space Manufacturing of Artificial Retinas Through ISS National Lab-Sponsored Investigation

Approximately 1.5 million people worldwide are affected by retinitis pigmentosa, a rare genetic disorder that causes vision loss.

24 Jan 2024

The Pathogenic Mechanism Underpinning MEPAN Syndrome

New research published in Nature Metabolism discovered the pathogenic mechanism driving mitochondrial enoyl reductase protein-associated neurodegeneration (MEPAN) syndrome, a rare pediatric neurodegenerative disease.

1 Sep 2023

Lipe Gene Plays Pivotal Role in Retinal Health, Study Finds

UT Southwestern Medical Center researchers have identified a gene called Lipe that appears to be pivotal to retinal health, with mutations spurring immune activation and retinal degeneration.

12 Jul 2023

Researchers Publish a Detailed Protocol for Making Three Cell Types From iPSCs

Researchers at NIH's National Eye Institute have published a detailed protocol for making three cell types that are key components to form blood vessels and capillaries.

17 May 2023

New Gene Therapy may be on the Horizon for Usher Syndrome Type 1F

Usher Syndrome type 1F is a rare but severe genetic disease that causes deafness, lack of balance, and progressive blindness.

27 Apr 2023

UH Researcher Designs New Model Expressing the Most Common Disease Mutation in USH2A

Usher syndrome, a rare inherited genetic disease, is a leading cause of combined deafness and blindness with type 2A (USH2A) being the most common form.

18 Apr 2023

Study Paves the Way to Targeted Treatments for Stargardt Disease

A recent study in the Journal of Biological Chemistry revealed the key to a protein that commonly causes blindness.

5 Apr 2023

Newly Identified Rare Genetic Variants Could Point to One of the General Mechanisms Driving AMD

A study from the National Eye Institute (NEI) identified rare genetic variants that could point to one of the general mechanisms driving age-related macular degeneration (AMD), a common cause of vision loss in older adults.

3 Apr 2023

Rare genetic variants identified that point to MAC as a therapeutic target for age-related macular degeneration

A new study conducted at the National Eye Institute (NEI) has identified incredibly rare genetic variants that might uncover the mechanisms underlying the development of AMD.

31 Mar 2023

FDA-approved compound promotes photoreceptor survival in lab models of inherited retinal ciliopathy

A National Eye Institute-led team has identified a compound already approved by the U.S. Food and Drug Administration that keeps light-sensitive photoreceptors alive in three models of Leber congenital amaurosis type 10 (LCA 10), an inherited retinal ciliopathy disease that often results in severe visual impairment or blindness in early childhood.

30 Mar 2023

Genome editing proven effective to restore the vision of mice with genetic diseases

Chinese researchers have turned out to be successful in restoring the vision of mice with retinitis pigmentosa, which is considered to be one of the significant causes of blindness in humans.

20 Mar 2023

Unique region of the brain's cortex used when visually navigating an area by foot

Using vision to efficiently move through an area by foot uses a unique region of the brain's cortex, according to a small study funded by the National Eye Institute.

16 Mar 2023

Newly discovered genetic mutation may be a root cause of severe cases of childhood glaucoma

An international team of scientists led by Mass Eye and Ear, a member of Mass General Brigham, and Boston Children's Hospital, has discovered a new genetic mutation that may be a root cause of severe cases of childhood glaucoma, a devastating condition that runs in families and can rob children of their vision by 3 years of age.

30 Jan 2023

New technique provides an unlimited supply of patient-derived tissues to study AMD

Scientists used patient stem cells and 3D bioprinting to produce eye tissue that will advance understanding of the mechanisms of blinding diseases.

3 Jan 2023

3D “mini eyes” provide insight into genetically induced blindness

The development of “mini eyes” by researchers at the UCL Great Ormond Street Institute of Child Health (UCL GOS ICH) has made it possible to study and comprehend the onset of blindness in the rare genetic disease known as Usher syndrome more.

From University College London 22 Nov 2022

Genetics and extensive schooling likely cause nearsightedness in children

Researchers have discovered five genetic variations that, the longer a person attends school, increase their risk of developing nearsightedness. These results were published on November 17th, 2022 in the open-access journal PLOS Genetics by a team at Cardiff University in the United Kingdom, led by Jeremy Guggenheim.

21 Nov 2022

Adults with congenital blindness experience striking recoveries of night vision after gene therapy

Adults with a genetic form of childhood-onset blindness experienced striking recoveries of night vision within days of receiving an experimental gene therapy, according to researchers at the Scheie Eye Institute in the Perelman School of Medicine at the University of Pennsylvania.

11 Oct 2022