Common Eye Conditions
At RSBC we support children and young people with any visual impairment no matter the cause or condition. We work with children with both common and rare conditions, those present from birth and those developed later in life. This is a list of some of the most common conditions and the impact they can have on children and young people. Please be aware that this is not an exhaustive list and only includes a brief overview of a condition. For specific advice and medical guidance, please contact the relevant medical professionals.
Albinism is a group of genetic disorders in which the affected individual has reduced or absent pigmentation. Usually affects the hair, skin and eyes – however eyes alone can be affected.
Common features – reduced visual acuity, photophobia, nystagmus, strabismus. These children need to avoid glare and may well have tinted glasses. A cap may be useful in bright light. Coming in from bright sunlight may present problems of accommodation. If the skin is affected high factor sun cream will be essential.
This is a rare congenital, condition. Usually part or all of the iris is absent, giving the appearance of an enlarged pupil. There is an associated underdevelopment of the retina leading to reduced vision and nystagmus. Bright light will need to be avoided as there is no mechanism for controlling the amount of light entering the eye.
For more info go to the Aniridia Network.
Anophthalmia and Micropthalmia
Part of a range of rare developmental abnormalities in which babies are born with no eye in the eye socket (anophthalmia) or with a small eye in the socket (microphthalmia). Can affect both eyes in which case the baby will be blind, or one eye in which case the baby may have normal vision in the other eye. Artificial eyes, usually made of acrylic and painted to look like real eyes, are used to help with cosmetic appearance. In some families this can be genetically inherited, but most cases are isolated.
For more info go to the MACS website.
This is a rare inherited condition which is variable in way it presents. Characteristics include rod/cone dystrophy (atypical Retinitis Pigmentosa), obesity, extra fingers and/or toes (polydactyly), underdeveloped genitals (hypogenitalism), mild to severe learning difficulties, kidney malformations and renal dysfunction.
For more info go to the Bardet Biedl Syndrome Foundation website.
About 200 children a year are born in the UK with opacity of the lens of one or both eyes – a cataract. In most cases the lens will be cloudy enough to prevent clear vision developing and the child will need surgery to have the lens removed. For the child to focus thick glasses or a contact lens will be needed. Children will need regular vision checks and for Glaucoma.
For more info, go to the NHS website on cataracts.
In this condition there is a gap, or cleft, in one of the structures of the eye. Different parts of the eye can be affected although the iris is most commonly involved giving a keyhole shaped pupil. Can be unilateral or bilateral. May be associated with other eye defects such as Microphthalmia/Anophthalmia.
For more info go to the MACS website.
Colour Vision Deficiency (colour blindness)
Colour blindness is a hereditary defect found in 8% of the male population and 0.4% of the female. Children with Rod/Cone Dystrophy will be those most severely affected. There is no cure or remedy. Teachers should try to think in “black and white”. For social reasons it is helpful for the child to know the names of colours and some associations – green grass, blue sky, white snow, red blood. They also need to learn about the “safety” aspects of colour – traffic light sequence.
Cortical or Cerebral Visual Impairment (CVI)
An impairment that impacts the way the brain processes visual information, CVI affects each child uniquely and to differing degrees. CVI may be present alongside another visual impairment or may be present despite fully functioning eyes.
For more info, go to the CVI Society website.
An eye disease usually characterised by increased intra-ocular pressure. Mainly affects those over 40 but there is a congenital form of the condition that affects babies and children. The cause is abnormal development of eye tissue. It is called Hydrophthalmia/Buphthalmos. A parent may notice an aversion to light or watering of the eye in the absence of inflammation. If left untreated it can cause damage to the lens, retina and optic nerve.
Leber’s Congenital Amaurosis
Group of conditions that have in common abnormality of retinal receptors that results in severe visual impairment from birth.
For more info, go to the Foundation for Fighting Blindness’ web page on Leber Congenital Amaurosis.
Term used for jerky movements of the eyes. Congenital Nystagmus occurs at birth or in the first few months of life. It is often associated with an underlying visual disorder e.g. Albinism.
The child will have difficulty “fixing” and so should be able to tilt the head in order to maximise vision. Close visual tasks will be tiring, distance vision is likely to be poor.
For more info, go to the Nystagmus Network website.
Optic Nerve Hypoplasia
Congenital condition in which there is underdevelopment of the optic nerve. Can be unilateral or bilateral. One of the 3 most common causes of visual impairment in children.
The process whereby the optic nerve carries visual information from the eye to the brain which interprets it and allows people to “see” can be interrupted to greater or lesser degrees depending on the amount of underdevelopment of the optic nerve. If the nerve in both eyes is affected in a major way the child will only be able to see large objects and bright lights.
For more info, go to the Rare Diseases Database on Optic Nerve Hypoplasia.
Retinopathy of Prematurity (RoP, formerly Retrolental Fibroplasia)
This occurs in some premature babies of very low birth weight who have received oxygen therapy. The therapy and subsequent withdrawal of the excess oxygen causes the blood vessels to grow in a distorted manner thus preventing a clear passageway for light onto the retina. This causes blindness and may have other associated difficulties – Glaucoma, Retinal Detachment.
Anecdotal evidence suggests that these children may have poor spatial awareness and increasingly problems with social communication. There is also evidence to show that they may well have exceptional musical ability disproportionate to that they might have been expected to “inherit”.
For more info, go to the RNIB’s webpage on RoP.
Group of hereditary diseases of the retina, the light sensitive tissue at the back of the eye in which the first stages of “seeing” take place. The first symptom is night blindness, followed by narrowing of side vision leading to “tunnel” vison.
For more info, go to the RNIB webpage on RP.
Malignant tumour which develops at the back of the eye. Affects babies and young children. Very rare after the age of 5. If the other eye does not develop the cancer, it will almost certainly have normal vision. Treatment may include surgery to remove the eye, chemotherapy, laser therapy, freezing treatment, radiotherapy – often a combination of treatment is needed.
Septo-Optic Dysplasia (SOD)
This is the commonest of the midline cerebral/cranial abnormalities. In addition to the optic nerve and cerebral abnormalities there is in some cases pituitary dysfunction. All children with these difficulties need to be seen by an endocrinologist.
For more info, go to the Great Ormond Street web page on SOD.
Stargardt Macular Dystrophy
This is the most common juvenile onset form of inherited macular dystrophy and should not be confused with Age Related Macular Degeneration. Its hallmark is the loss of central vision in younger people and is usually identified between the ages of 6 and 20 although affected people might not be aware of the condition until their 30s or even 40s.
For more info, go to the Moorfields webpage on Stargardt.
This is a genetic progressive condition that affects the body’s collagen (connective tissue). Individuals affected by this condition may present with any number of the following:
- Ocular manifestations of early onset myopia (near sightedness), usually congenital (born with )and non-progressive. There is a high risk of retinal detachments, which can occur in both eyes. Typically there are early cataracts.
- Hypermobilty (looseness) of joints. Stiffness and premature osteoarthritis, developing typically in 3rd and 4th decade, prominent joints and the widening of the ends of long bones.
- Facial clefting (fissures) that occurred in embryonic development, high arched palate, undersized jaw, mid facial hypoplasia (arrested development) and protruding tongue.
- Sensorineural and /or conductive hearing loss and glue ear (otitis media).
F0r more info, go to the Stickler Syndrome UK website.
The loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.
This condition is characterised by sensory neural hearing loss with Retinitis Pigmentosa. The hearing loss is usually congenital and may be total or partial.
For more info, go to the Sense webpage on Usher Syndrome.