Public Health UpdateSevere Visual Impairment and Blindness in Infants: Causes and Opportunities for Control Parikshit Gogate1,2, Clare Gilbert3, Andrea Zin4 ABSTRACT Access this article online Website: Childhood blindness has an adverse effect on growth, development, social, and economic www.meajo.org opportunities. Severe visual impairment (SVI) and blindness in infants must be detected DOI: as early as possible to initiate immediate treatment to prevent deep amblyopia. Although 10.4103/0974-9233.80698 difficult, measurement of visual acuity of an infant is possible. The causes of SVI and blindness Quick Response Code: may be prenatal, perinatal, and postnatal. Congenital anomalies such as anophthalmos, microphthalmos, coloboma, congenital cataract, infantile glaucoma, and neuro-ophthalmic lesions are causes of impairment present at birth. Ophthalmia neonatorum, retinopathy of prematurity, and cortical visual impairment are acquired during the perinatal period. Leukocoria or white pupillary reflex can be cause by congenital cataract, persistent hyperplastic primary vitreous, or retinoblastoma. While few medical or surgical options are available for congenital anomalies or neuro-ophthalmic disorders, many affected infants can still benefit from low vision aids and rehabilitation. Ideally, surgery for congenital cataracts should occur within the first 4 months of life. Anterior vitrectomy and primary posterior capsulotomy are required, followed by aphakic glasses with secondary intraocular lens implantation at a later date. The treatment of infantile glaucoma is surgery followed by anti- glaucoma medication. Retinopathy of prematurity is a proliferation of the retinal vasculature in response to relative hypoxia in a premature infant. Screening in the first few weeks of life can prevent blindness. Retinoblastoma can be debulked with chemotherapy; however, enucleation may still be required. Neonatologists, pediatricians, traditional birth attendants, nurses, and ophthalmologists should be sensitive to a parent’s complaints of poor vision in an infant and ensure adequate follow-up to determine the cause. If required, evaluation under anesthesia should be performed, which includes funduscopy, refraction, corneal diameter measurement, and measurement of intraocular pressure. Key words: Childhood Blindness, Congenital Anomalies, Congenital Cataract, Retinopathy of Prematurity INTRODUCTION is also the time when the visual system develops and binocular vision is formed.1 If a visual deficit at this age is not treated in V isual impairment and blindness in children pose a special problem for ophthalmologists, as many eye care practitioners are not familiar with performing pediatric eye a timely manner, amblyopia and permanent visual deficit can occur. Hence, early diagnosis and prompt treatment is essential. The burden of blindness measured in blind-person years due examinations and measuring visual acuity in infants. Infants are to childhood blindness is second only to cataract – the most unable to verbalize their complaints, and history from parents common cause of avoidable blindness in childhood.2 Studies and care takers may lack important details. The first year of life worldwide show that many of the causes of blindness in children Dr. Gogate’s Eye Clinic, Pune, 2Lions NAB Eye Hospital, Miraj, India, 3International Centre for Eye Health, London school of Hygiene 1 and Tropical Medicine, London, UK, 4Instituto Fernandes Figueira, FIOCRUZ, Rio de Janeiro, Brazil Corresponding Author: Dr. Parikshit Gogate, Dr. Gogate’s Eye Clinic, K 102, Kumar Garima, Tadiwala Road, Pune – 411 001, India. E-mail:
[email protected] Middle East African Journal of Ophthalmology, Volume 18, Number 2, April - June 2011 109 gene- Blindness also has implications for infants’ development. life. which leads to enophthalmos.: Blindness and Severe Visual Impairment in Infants are either preventable or treatable (ie. those acquired after birth) cases can occur. and future social. taught to read print with low vision aids instead of Braille. particularly in Middle Eastern countries. can be investigation. Oculocutaneous albinism. the visual outcomes are often suboptimal. Retinoblastoma is the most common childhood tumor presenting at the age of 12-15 Retinal dystrophies months in bilateral cases and 18-24 months in unilateral cases. in which the infant constantly rubs or Coloboma can cause severe visual loss if the defect involves the presses on the eyes. avoidable). Early vitrectomy can be attempted in eyes where are unusual during infancy. which in children. even in countries may be X-linked or autosomal recessive. In Knobloch syndrome nystagmus. occurring at the time of conception or cases. It is essential to common in communities with high rates of consanguinity.6-9 These are difficult to research. Retinal dystrophies have variable genetic inheritance and are it can also develop much later in childhood. Typical complete uveal coloboma is the most that manifests in infancy. Infantile glaucoma Leukocoria may be seen in early infancy can be due to congenital Infantile glaucoma can result in blindness without early cataract.13 This birth).17 Low vision aids are PRENATAL ONSET effective for navigation and reading for individuals affected with retinal dystrophies. deafness. and the community. folate) could be identified.16. from the 28th week of gestation through to 1-4 weeks after posterior pole of the lens. and congenital cloudy cornea. is common. been extremely broad to have a measurable effect. and in many parts of Asia show that these congenital eye anomalies epilepsy. persists into childhood. no cause can be identified. infantile PHPV is a congenital anomaly in which the primary vitreous. Surveys from schools for the blind Other common features include learning disability. as an autosomal dominant condition. emotional. this is a common cause of blindness in children worldwide. their family.14 condition for the purposes of this paper. environment interactions. does not close completely by the sixth week of intrauterine life. reflecting similar processes elucidated education. retinal dystrophies such as Leber’s congenital amaurosis. macula and/or optic nerve. development (which are largely unknown) and possibly. retinopathy of prematurity (ROP).10 This is because helped with low vision devices and rehabilitation. however. be inexpensive social. the intervention would have to visual loss can have profound consequences on a child’s motor. In the majority of Ocular albinism affects only male infants due to the X-linked 110 Middle East African Journal of Ophthalmology.3 Even children cases. Number 2.5 Visual loss in infants can Medical therapy or surgery are rarely effective in congenital be either prenatal (ie. marital.12 Many children with congenital defects can be birth). Numerous genes have been retinoblastoma or rare genetic disorders such as Norrie’s disease. refraction and low vision aids can help many during the intrauterine period) or postnatal (during or after of these cases. examine children presenting with leukocoria under anesthesia Although the dystrophy may only give visual symptoms later in due to the potentially serious underlying causes. glaucoma. In the perinatal period which extends from the optic disc to the vitreous base at the (ie. The fundus may be normal or show common congenital anomaly in which the embryonic fissure peripheral chorioretinal atrophy and granularity with nystagmus.June 2011 . Childhood these anomalies are likely to be due to genes controlling eye blindness affects the individual. even with in-depth molecular genetic testing and detailed who have visual loss that cannot be clinically treated. and economic prospects. and retinopathy of microphthalmos.15 Surgery followed by medication and optical hyperplastic primary vitreous (PHPV) – anterior or posterior – aids is the treatment of choice.11 Even if an environmental agent Nearly 75% of early learning comes from vision. ophthalmia neonatorum. for folic acid and spina bifida. Postnatal conditions (ie. persistent intervention. PHPV is usually unilateral. Anophthalmos and microphthalmos are congenital anomalies in which the entire eyeball is entirely absent or smaller than Leber’s congenital amaurosis is an autosomal recessive condition normal from birth. although bilateral prematurity. Gogate. the following conditions can occur: cortical impairment anomaly can cause severe visual loss. As retinoblastoma can be inherited the surrounding vitreous is clear and the retina fairly developed. implicated and genetic counselling is essential if more than one A leukocoria detected by parents in later infancy may be due to sibling is affected. Prenatal causes are congenital anomalies – anophthalmos. Early onset (eg. and may be associated with from birth asphyxia. high myopia and late are a leading cause of blindness and severe visual impairment retinal detachment are seen. microphthalmos. of childhood blindness according to the anatomical site most affected and the underlying etiology. is detectable at birth. with the best healthcare systems and expertise. and psychological development. Volume 18. it is considered a prenatal however. Oculodigital syndrome. and coloboma. developmental cataract or retinoblastoma. et al. April . Genetic counselling is required if more than Congenital anomalies one sibling is involved.4 and safe (as it would need to be given to large numbers of people) and be nonteratogenic – a difficult proposition in developing The World Health Organization (WHO) classifies the causes countries. congenital cataract. Traditionally. A mule’s implant wrapped in a surgeons are implanting IOLs in very young children. immediately after birth with instillation of a topical antibiotic which can act as a scaffold for migrating lenticular cells. The primary posterior capsulotomy can be performed before or after inserting the intraocular lens. in the majority.26 A of dense amblyopia. the timing of intraocular lens prosthesis needs to be implanted in the child’s eye to prevent (IOL) implantation remains controversial. if required. There can be 2 years esotropia. An MVR blade may be used to make a ‘nick’ below the 15% of all causes of blindness in developed countries and up implanted lens to later enlarge the opening with a vitrectors.18 distance. At 6 years or older. 12 sclera shell or dermal fat grafts may be used for this purpose. this should be an exception rather than Ophthalmia neonatorum the rule.23 to 60% in middle income countries. the child can sit on a slit sexually transmitted diseases during pregnancy can prevent the lamp for Nd:YAG laser capsulotomy after surgery.21 Many experienced the contracture of the socket. refraction. The (eg. genetic disorders. a 2% solution of silver nitrate was used incision and the anterior chamber free of vitreous. Parents must be counselled about the need for regular disease or Sandhoff disease. ophthalmic examination. but this is for Credé’s prophylaxis.June 2011 111 . gestational age (GA). and nystagmus in infancy. larger lesions may need enucleation. have to be corrected for near vision.21. et al. Generally.22 In \ children where the risk PERINATAL ONSET of general anesthesia very high. Experts recommend primary the infant become infected in the birth passage during delivery. The usual presentation is amblyopia by patching the better seeing eye.23 sensitivity to antibiotics. tetracycline eye ointment) or antiseptic (eg. There is a risk of Retinopathy of prematurity the capsulotomy extending during the implantation of a foldable Retinopathy of prematurity (ROP) is responsible for up to lens. epidemiology of sexually transmitted diseases and the organism’s there is an exaggerated fear of suprachoroidal hemorrhage. ie. the hyperbaric oxygen that saves an infant’s life. It usually presents after infancy as leukocoria. pneumonia). However. and normal fundus. and intraocular pressure measurement. and congenital rubella syndrome are recognized causes of this condition. There is almost a hundred percent posterior capsular This is an eminently preventable condition in which the eyes of opacification in pediatric eyes. posterior capsulotomy and anterior vitrectomy in children up to Credé’s prophylaxis and antenatal testing or treatment of the age of 6-7 years. can cause blindness.24 disorders. the most anesthesia. Credé’s prophylaxis entails cleaning the infants’ eyes The anterior vitrectomy removes the almost solid vitreous base. by early.: Blindness and Severe Visual Impairment in Infants inheritance and is usually diagnosed at infancy.27 A number of risk factors A-scan biometry and keratometry need to be performed under are implicated in the development of ROP. There are several Pediatric cataract surgery is one step in a series of interventions trials seeking to define safe upper and lower limits of arterial Middle East African Journal of Ophthalmology.28 Paradoxically. visual axis and glaucoma. advisable. months or older.24 Postoperative management is a rare autosomal recessive heterogeneous group of stationary includes frequent steroid eye drops with cycloplegia. The agent used depends on the local technically demanding for anterior segment surgeons. metabolic well. or masquerades as uveitis. to ensure has to be meticulous in removing vitreous from the anterior treatment of extraocular sites of infection (eg. marked photophobia. accurate. Aphakic glasses prolonged exposure to supplementary oxygen. followed retinal dystrophies characterized by reduced central vision.5% povidone pars plana approach has the advantage of keeping the primary iodine). if not properly controlled and tapered. Hydrophobic acrylic or poly-methyl-methacrylate commonly identified risk factors are the degree of immaturity IOLs are best for infants. April . 2. Treatment of ophthalmia neonatorum Vitrectomy through limbal side ports is easier but the surgeon must entail systemic as well as topical treatment.21. countries. and repeated refractions and treatment of poor color vision. however.21 condition. with other causes declining. Number 2. chamber. Lesions detected early delay from cataract diagnosis to presentation for surgery. syndromes. Volume 18. of pediatric IOL implantation include opacification of the A macular cherry red spot could be due to Tay-Sachs disease. the Retinoblastoma cause is unknown. Gogate. Achromatopsy required to rehabilitate vision. While children with unilateral cataract have Management with specialist tertiary oncology services is also undergone IOL implantation at as early as 6 months of age. the target postoperative measured by birth weight (BW).19 The importance of congenital cataract is Retinoblastoma is the most common intraocular malignancy in increasing as a cause of blindness among children in developing early childhood.000 live births. Late complications reduced vision. bilateral surgery at the same visit is advisable.20 Early can be treated with chemotherapy with preservation of the recognition and referral is essential to prevent development globe.25. However. the latter being particularly difficult which is fatal by the second year of life or due to Niemann-Pick to treat. and refraction is emmetropia by the age of 5-6 years. It is important to remember that aphakic/ Congenital cataract pseudophakic children need correction for near as well as The birth prevalence of cataract is 3-5/1. however. Moreover. and many are able to tolerate executive bifocals very While monogenetic abnormalities. it is better to wait until 2 years of age for implanting IOLs in children with bilateral cataracts. At first. where quality waiting area.5 ml of phenergan syrup (properazine – a mild sedative and developing refractive errors. This allows more detailed fundus and external ocular evaluation. trauma.: Blindness and Severe Visual Impairment in Infants oxygen saturation. amblyopia. may affect but to also perform tonometry. The test is based on the psychological percept that humans measles. or cribs. which makes assessment and dictum of “one toy-one look” should be used to examine the management even more challenging. However.June 2011 . Jampolsky’s children are severely handicapped. 2. hence. If a serious Optic nerve lesions and cerebral visual impairment are the lesion such as retinoblastoma is suspected. measurement of the optic nerve and cause cortical visual impairment. The common Cardiff cards). 112 Middle East African Journal of Ophthalmology. The disease is classified puts the mother and child at ease. and most infants before the age defeat the purpose of the examination. Worth’s ivory fall test and small sweets commonly used to decorate cakes. measles antibodies received from their mother. So far. Low vision aids and rehabilitation are often the only recourse. Number 2. Gogate. and phenylephrine for treatment of retinal proliferative diseases in adults. The ophthalmologist hours 1-12). lap. The red reflex developing severe ROP.500 g. and measurement of intraocular pressure by non- Optic nerve lesions and cerebral visual impairment contact or Perkins (more accurate) tonometer. child will divert its eyes to the drawing rather than the blank area.35 Birth asphyxia. As a consequence. by BW < 1. such Orthoptic evaluation of an infant requires patience. if the infant has low vision. as this of neonatal care still needs to improve. EVALUATION OF A VISUALLY IMPAIRED can also be used. brightly colored objects. countries. and by extent (clock for fixating and following of the flashlight. as these drugs interfere of toxicity due to systemic absorption. April . at one end of the card sheet and the other end is kept blank. which causes cerebral palsy. The infant can be examined by severity (stages I-V). orders of form vision.31. which are VEGF-sensitive and develop at the same on the dilator papillae muscle. Often. can be done by way of medical treatment. Cyclopentolate and with the normal development of vasculature elsewhere in the tropicamide are parasympatholytic agents acting on sphincter body and may impede development of the lungs and alveoli of pupillae. The child can also be given time as does ROP. an evaluation under most common causes of visual impairment in many developed anesthesia is essential for detailed examination of the fundus. and other causes of leukocoria. and trachoma are uncommon in infancy. Little corneal diameter. vascular endothelial growth factors (VEGFs) are promising drugs Cyclopentolate 0. However. infant’s ocular motility in the nine cardinal directions of gaze. Visual acuity can be of 9 months (when they are immunized) will have protective formally assessed using forced preferential looking tests (eg. and low antihistamine combination) and then breastfed to lull it into vision. However.32 Appropriate screening protocols should be examined to rule out congenital cataract. et al. which would unusual in the first year of life.30 middle income and developing countries lens. with the child sitting comfortably on a parent’s causes of blindness in childhood such as vitamin A deficiency. there is no evidence provided by clinical or next day after instilling atropine eye ointment to dilate the trials that surgery is beneficial for cases in stages IV and V.1%. tropicamide 0. While most developed countries screen infants should also have a quick look at the cornea. Anti. advanced ensure early detection in the first weeks of life so that treatment ROP.1%.5% eye drops may also be instilled.500 g are instrument for this component of the evaluation. strabismus. the or is causing strabismus. in their laps. the examination can be repeated after a few hours can be provided.29 The improvement in neonatal care can challenging for the general ophthalmologist. and even POSTNATAL ONSET mobile phones can be used to arouse the child’s interest. pupil. A separate area for breastfeeding is welcome. countries34 where these are often a consequence of preterm The opportunity must be utilized not just to examine the fundus birth. A handheld slit lamp is the best need larger BW criteria as infants weighing up to 2. are attracted to novel stimuli. and axial length. anterior chamber. “hundreds and thousands”. Infants are best examined in the position they are most middle-income countries and major metropolises of even poorer comfortable – on their parents’ shoulders. The child picks up the small sweets if it is INFANT able to see them. even small refractive errors The line drawings are made progressively finer to estimate higher may need correction. The mother should be asked to occlude the While evaluation of a visually impaired infant may seem infant’s eyes one at a time. An assortment of soft toys. the task is not that lead to an increase in survival rates of premature infants in difficult. though there is a risk extreme caution is warranted in infants. and report on the infant’s response. spectacles are not required in infants. long-term follow-up is recommended. by site (zones 1-3). Volume 18. The objects should not make noise as the child will be attracted Keratomalacia cause by acute deficiency of vitamin A is very through the auditory and not the visual signals. If the child is uncooperative (peripheral ablation of avascular retina) with laser or cryotherapy or distressed. If the child is shown a line drawing Unless the refractive error is very large [>3-4 diopter (D)].33 Premature infants are at increased risk of 2. bilateral vision is tested followed by monocular testing. whereas phenylephrine is sympathomimetic acting the lungs. sleep. ROP has become a very important We recommend not making the infant and parents wait in a busy cause of childhood in these developing economies. and pupillary reflex. refraction. the drug may affect the pupil for a week. general publishers. centers are rare in developing countries. Even if the ophthalmologist may not be able to help SERVICE medically or surgically. and pediatric editor. Visual impairment and blindness in children. Causes of severe visual impairment and blindness misconceptions. Ophthalmic Epidemiol 2009. 260-86. South Even when the infant has been referred for treatment India. Shetty J. However. Gogate. Rahi JS. Gilbert CE. in some trends of childhood blindness in Indonesia: Study at schools Middle East African Journal of Ophthalmology. Using alternatives that are available for the infant. the last 14 years. appropriate referral may too late if dense in children in schools for the blind in eastern Africa: Changes in amblyopia has occurred. Frequent ophthalmic visits to confirm the level of vision and working for the care of the infant should be sensitized to the make a definitive diagnosis can be difficult for parents. Thylefors B. and neonatologists. anesthesia is often required for examination and treatment. Deshpande M. Early support developmental journal for children This entails liaison with other medical practitioners such with visual impairment: The case for a new developmental as pediatricians.June 2011 113 . they should be taught to detect any parents some time to come to terms with their child’s visual opacity seen in the infant’s red reflex. Bull World Health Organ 1993. Normal and abnormal visual development. many parents believe that their infant is too 9. burden of childhood blindness. A social eye conditions in infancy and on the causes of childhood worker or counsellor can establish a rapport with the parents blindness and visual impairment. With proper care.91:8-12. In: David T. Sitorus RS. Diagnostic. Measuring the geographic barriers for many parents from poorer communities. any treatment can be given. significant barrier is the lack of knowledge on the part of 5. West SK. Day S. anesthetists.16:212-7. the cause. traditional birth attendants. For example. healthcare workers working for child health and immunization Blindness and severe visual impairment in infants is not that would be of immense help in early detection of such children. Volume 18. this may indicate communities. REFERENCES Developed countries have established referral systems between 1. Abidin MS. The ophthalmologist should spend some time Pediatricians. 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Finer NN.June 2011 . Mosha M. babies with severe retinopathy of prematurity in countries with 13. Dole K. Gothwal VK. Nutheti R. at full term from 1972 through 1989 in Finland. Gilbert C. Invest Ophthalmol Vis Sci 2001.91:1109-13. Invest Ophthalmol Vis Sci 2011. Volume 18. Severe visual Impairment and blindness in infants: Causes and opportunities for control. Tabbara KF. Russell-Eggitt Highlights Ophthalmol 2009. Narang A. Visual impairment in children born 20. Br J Ophthalmol 2003. Kulkarni coloboma in the United Kingdom: A prospective study of S. Capone A Jr. Epidemiol 2006. Bhatia PG. 14. Hornby SJ. Indian J Ophthalmol Source of Support: Nil. Dogra MR. greater than 1250 grams at birth: Ten year data from a tertiary 18. Support Study Group of the Eunice Kennedy and visual outcomes in Indian children with developmental Shriver NICHD Neonatal Research Network. . Further reproduction prohibited without permission.Reproduced with permission of the copyright owner.