Caption: Figure 1: Four-generation family with familial aniridia
. Pedigree of a four-generation family in which 13 individuals were affected with familial aniridia
(gray circles and gray squares).
FUNDRAISERS James and Elly Chapple with daughter Ella, four, who was born with no irises, and Eileen and Alan Ferguson CONDITION Ella Chapple, who suffers from WAGR Syndrome and Aniridia
Ella recently underwent risky surgery at Great Ormond Street in London for glaucoma in her right eye, which is a common complaint for aniridia
"It may be possible to delay the degeneration of sight for people with Aniridia
. They're very hopeful about what they can achieve and have put a photo of Ella in her fairy wings on the wall to inspire them."
James, 35, and Elly, 34, who also have a six-month-old son Reuben, have raised almost pounds 11,000 to fund research into aniridia
He explained how people suffering from aniridia
have specific visual needs that may be different from those with other types of visual impairment resulting from the absence of irises.
Sue was registered visually impaired from birth with a condition called aniridia
, an iris abnormality causing the pupils to be abnormal or misshapen.
Los defectos de la interaccion epitelio-mesenquimatica dan como resultado trastornos del desarrollo tales como la aniridia
. La hipoplasia o ausencia del iris puede ser inducida experimentalmente en el raton por deficiencia de la vitamina A materna (Cvekl & Tamm).
It focused on limbal stem cell deficiency (LSCD), which can result from damage to eye from chemicals or heat, or be caused by a disease called aniridia
Genetic eye disease spans developmental eye defects such as structural globe anomalies (microphthalmia, anophthalmia, ocular coloboma), anterior segment dysgenesis (including aniridia
and sclerocornea), congenital cataracts, primary congenital glaucoma, congenital nystagmus, optic nerve disorders (ranging from hypoplasia to morning glory disc anomaly), to later childhood and adult-onset disorders including corneal and retinal dystrophies, and hereditary optic neuropathies.
The condition can be brought on by damage from heat or chemicals, or a condition known as aniridia
- the absence of the iris.