World Down Syndrome Day with a focus on eye health

21 March marks World Down Syndrome Day, a date dedicated to promoting the autonomy and individual independence of people with this genetic condition. This day aims to encourage the freedom to make decisions, full social participation, and the recognition of people with Down syndrome as citizens with full rights.

What is Down syndrome?

Down syndrome is a natural chromosomal condition caused by the presence of an additional copy of chromosome 21 (trisomy 21). It is part of the human condition and occurs in all regions of the world, with variable effects on learning styles, physical characteristics, and health. Adequate access to healthcare, early intervention programmes, and inclusive education are essential to support the development and wellbeing of people with Down syndrome. Likewise, scientific research and the early detection of possible visual disorders play a fundamental role in their quality of life.

Contribution of people with Down syndrome

We join this celebration with the aim of highlighting the valuable contributions of people with Down syndrome within their communities. Their role as promoters of wellbeing, empathy and diversity demonstrates that an inclusive society is a fairer society.

Eye health in Down syndrome

Ocular conditions are common in people with Down syndrome. It is estimated that around 70% present some type of visual impairment, making regular ophthalmological check-ups from an early age essential. Below, we review the main eye conditions associated with Down syndrome and the importance of early detection and treatment.

Blepharitis

Blepharitis is an inflammation or infection of the eyelid margins that causes redness, itching and swelling of the eyelids. Its treatment is very important, as constant rubbing due to itching can lead to secondary lesions or favour other eye conditions, such as keratoconus.

Keratoconus

Keratoconus is a condition that causes progressive thinning and deformation of the cornea, which takes on a cone shape. In Down syndrome, it may be related to repeated eye rubbing caused by blepharitis. Early diagnosis through corneal topography and the use of special lenses or surgical treatments help to slow its progression.

Cataracts

Cataracts are opacities of the lens that reduce ocular transparency and vision. In Down syndrome, they may appear at different ages:

• Congenital cataracts: usually total and require surgery to restore vision.
• Childhood or juvenile cataracts: cortical or polar (anterior or posterior) and usually cause mild visual impairment, without the need for immediate surgery. If they progress over time, surgery may be required.

Refractive errors: myopia, hyperopia and astigmatism

Refractive errors (myopia, hyperopia and astigmatism) are more common in children with Down syndrome than in the general population. Hyperopia is the most frequent, followed by astigmatism and myopia. The use of glasses or customised lenses improves vision and supports school development.

Lacrimal duct disorders

Disorders of the lacrimal duct are also common, causing excessive tearing and ocular discharge. In some cases, daily eye massage is sufficient, although others may require minor surgical intervention.

Strabismus

Strabismus is the misalignment of the visual axes, whereby each eye looks in a different direction. In Down syndrome, the most common type is horizontal strabismus, which may be inward (esotropia) or outward (exotropia). Some cases require occlusion therapy (use of an eye patch) to prevent the development of amblyopia (lazy eye) and/or surgical treatment.

Nystagmus

Nystagmus is a rhythmic and involuntary oscillation of the eyes, generally bilateral. Its frequency and amplitude vary, and in some cases it may affect visual fixation and reading. Diagnosis by an ophthalmologist is essential to determine its cause and establish appropriate treatment.

The importance of regular ophthalmological check-ups

Early detection of visual problems is key to ensuring optimal cognitive and motor development in people with Down syndrome. It is recommended to carry out a first ophthalmological assessment during the first year of life, followed by regular check-ups according to the patient’s age and progress.

In addition, it is important to highlight that people with Down syndrome are highly visual. Their main learning channel is sight, so maintaining good eye health not only improves their overall wellbeing but also enhances their cognitive, communicative and social skills.
Appropriate ophthalmological care from childhood helps them make the most of their visual potential, thereby strengthening their autonomy and integration into society.

Dr Anna Monés, Ophthalmologist, Barraquer Ophthalmology Centre