London doctors become first ever to cure blindness in children born with a rare genetic condition
Medics at Moorfields Eye Hospital and UCL injected healthy copies of the affected gene into the back of eye for the pioneering gene therapy. | ITV News London ...
Harrow Times1d
Parents of boy with rare eye condition hail ‘amazing’ results of gene therapy
Jace’s mum DJ, 35, told the PA news agency: “Pre-surgery, at around two years old, you could have held up any object, even a ...
Medscape3d
Recognition of the Clinical Signs and Symptoms of Joubert Syndrome
Joubert Syndrome is a rare, autosomal recessive disorder that affects the cerebellum and brain stem. It presents with a distinct respiratory pattern and profound tachypnea in the newborn period ...
verywellhealth2d
What Is Coloboma?
A coloboma is a missing piece of tissue in a person's eye. It is a congenital condition (meaning one you are born with) that can affect any part of the eye but is most common on the color part of the ...
bjo.bmj6d
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study
Results 78 individuals were included in this study. All genotypes showed a significant myopic predicted SER at birth (−3.076D, −5.511D and −5.386D) for CACNA1F, NYX and TRPM1 respectively.