Review Article

Ophthalmic Abnormalities in Children With Down Syndrome

Alexandra L. Creavin; Ray D. Brown, FRCOphth

ABSTRACT
A comprehensive review of the available literature was performed to determine the common ophthalmic disorders in children aged 0 to 16 years with Down syndrome. The UK National Library for Health interface was used to search seven electronic databases, including MEDLINE and EMBASE. Terms related to Down syndrome, ophthalmology, and pediatrics were combined in the search strategy, which yielded 230 articles. Application of exclusion criteria left 23 articles to include in the review. Literature synthesis demonstrated that children with Down syndrome are at risk for several ocular disorders. Refractive error was a common finding, particularly hyperopia. Strabismus was also reported regularly, particularly esodeviation. Other frequent findings included poor visual acuity, nystagmus, and blepharitis, whereas cataract and glaucoma were less common but had potentially serious implications for future vision. Only one study compared routine pediatric examination to that of a pediatric ophthalmologist. The findings of this review confirm the need for an ophthalmic screening program for children with Down syndrome. Additional work should investigate how such a program could be best implemented and ascertain how to involve different professionals in such a service. [J Pediatr Ophthalmol Strabismus 2009;46:76-82.]

mosome 21.1 It is the most common cause of mental retardation and results in characteristic features and many medical sequelae.2 Ocular features of Down syndrome were originally described in the late 19th century.3 Now better understood, these features are known to have the potential to significantly impact the vision of those with Down syndrome. An initial search of the literature revealed that there have been a number of studies in this area, many of which were conducted in tertiary centers in a variety of countries around the world. However, results are varied and we are not aware of any comprehensive review of the existing literature. METHODS The title and abstract of all articles in seven databases (AMED, BNI, EMBASE, HMIC, MEDLINE, PsycINFO, and CINAHL) were searched on May 12, 2008, to identify articles. Several Down syndrome, ophthalmic, and pediatric-related search terms were combined using the AND operator. This involved 20 search steps. Inclusion criteria were as follows: principal focus must be Down syndrome, ophthalmology, and pediatrics; English language; epidemiology; and original literature only. Articles were excluded at the title, abstract, or full text stage if they did not meet the inclusion criteria, if they covered Down syndrome with a comorbid condition or intervention, such as Down syn-

INTRODUCTION Down syndrome is a congenital abnormality caused by trisomy of all, or part, of the genes on chro-

From University Hospital of North Staffordshire, Stoke-on-Trent, Staffordshire, United Kingdom. Originally submitted October 4, 2008. Accepted for publication October 22, 2008. Presented as a poster at the British Isles Pediatric Ophthalmology and Strabismus Association annual meeting, October 9-11, 2008, Sheffield, England, and the European Pediatric Ophthalmological Society annual meeting, October 23-25, 2008 Leuven, Belgium. The authors have no financial or proprietary interest in the materials presented herein. The authors thank Dr. S. Williams, Consultant Pediatrician, for provision of the pediatric database and Mr. S. Creavin for statistical and methodological advice. Address correspondence to Alexandra L. Creavin, University Hospital of North Staffordshire, Newcastle Road, Stoke-on-Trent, Staffordshire, ST4 6QG, United Kingdom.

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Figure 1. Flow chart of articles included in data extraction.

drome and leukemia, or if they had a small sample size (< 10 patients). Data extracted from the remaining articles were entered into an Excel (Microsoft Corporation, Redmond, WA) spreadsheet to aid comparison between the different studies. Formal quality appraisal was not performed, but it is not common in epidemiological studies.4 No meta-analysis was performed due to the wide variety of definitions and instruments used by different studies. RESULTS Figure 1 presents a flow chart of article inclusion. The search retrieved 230 articles. The majority of articles excluded by title were articles duplicated on the different databases. Of the 47 abstracts obtained, 24 were excluded and the full text of the remaining 23 studies was obtained. Of the 23 studies, 22 included patients with Down syndrome, whereas 1 included a control group. Work from a wide range of countries was included. The sample size ranged from 18 to 524 patients and only 8 studies included patients exclusively younger than 17 years. Seven studies stated explicit inclusion and exclusion criteria. Five studies were of cohort design and these had a follow-up of up to 10 years. There was heterogeneity in study definitions for all measures, although studies were broadly comparable. Several definitions of emmetropia were used, with upper boundaries varying by 3.25 diopters (D) and lower boundaries varying by 1.00 D between studies. The most common definition for hyperopia was refractive error of greater than + 5.00 D.5-7 Definitions of astigmatism also varied from greater than 0.50 D8,9 to greater than 3.00 D10 of cylinder. The most commonly used definition was greater than 1.00 D of cylinder.11-14 There was heterogeneity in study instruments for all measures, although, again, studies were broadly comparable. In the case of visual acuity assessment, the Snellen illiterate E was used by two of the studies that recorded acuity,15,16 although Tsiaras et al.16 used it in combination with Allen cards. The

Figure 2. Prevalence of refractive error in patients with Down syndrome.

third study that assessed acuity used the Catford drum.9 The cover test was used consistently to assess strabismus, but five studies additionally used the Hirschberg corneal reflex test9,14,17-19 and one other combined the cover test with the Lang I stereoacuity test.11 Assessment of nasolacrimal duct obstruction was by relevant history, although some authors had additional criteria, including dye recovery from the nose,8 reflux of mucus on pressure over the lacrimal sac,7,20 and even examination under anesthesia.9
Ophthalmic Abnormalities

Overall Prevalence of Ophthalmic Disorders. Four of 23 studies commented on the overall prevalence of ophthalmic disorders in Down syndrome. The reported figures for the overall prevalence of ophthalmic disorders ranged from 46%16 to 61%21 and 91%20 to 100%.7 Ophthalmic Abnormalities Not Affecting Vision. Several studies assessed ocular abnormalities that do not affect vision. Of the 4 studies that recorded the presence of slanting fissures, 3 found the prevalence to be greater than 80%,6,8,11 whereas Kim et al. found a prevalence of 63%.20 Epicanthic folds were also common, being found in more than 60% of participants in all 5 studies in which they were assessed.7,8,9,11,20 In contrast, the prevalence of Brushfield spots ranged from 0%12 to 81%,6 the prevalence of hypertelorism ranged from 2%7 to 34%,22 and the prevalence of epiblepharon ranged from 2%9 and 54%.20 Microphthalmos was found in 1%7 and 7%23 of patients in the 2 studies in which it was assessed. Only 1 study noted telecanthus, finding a prevalence of 17%.7 Refractive and Visual Acuity Abnormalities. Figure 2 presents prevalence estimates for disorders of refraction, showing that hyperopia was
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more common than myopia in 8 of 13 studies. The prevalence of hyperopia ranged from 4%16 to 59%,7 whereas the prevalence of myopia ranged from 8%15 to 41%.16 In the 14 studies that recorded the prevalence of astigmatism, results ranged from 6%12 to 60%,8 with the majority of studies (7) recording values between 20% and 30%. Deficits in visual acuity were relatively common, being found in between 30%9 and 62%15 of subjects. In contrast, amblyopia was found in approximately 20% of patients by 3 studies8,16,17 but in only 3% of patients by Fimiani et al.7 Anisometropia was relatively uncommon and prevalence estimates ranged from 1%16 to 13%.19 Two studies investigated the link between cardiac malformations and refractive error. Da Cunha and Moreira8 found cardiac malformations were more strongly associated with myopia than either hyperopia or emmetropia, whereas Bromham et al.18 found that myopia and nystagmus were separately associated with heart disease. Disorders of Eye Movement. Disorders of eye movement assessed were strabismus, or squint, and nystagmus. Generally, strabismus was fairly common, with 13 of 20 studies reporting a prevalence between 20% and 40%7-12,14-16,19-21,23 and 5 other studies reporting it to be between 40% and 60%.5,6,13,24,25 However, 2 studies found the prevalence of strabismus to be less than 20%.17,22 Where strabismus was divided by direction of deviation, esodeviation was more common than exodeviation, with estimates for esodeviation ranging from 15%20 to 52%5,25 and those for exodeviation from 0%9 to 11%.20 Only Da Cunha and Moreira8 and Caputo et al.5 mentioned hyperdeviation. Nine of the 20 studies that recorded the prevalence of nystagmus reported estimates between 10% and 20%.8,10,12,13,16,18,19,21,26 Five other studies found nystagmus in more than 20% of subjects.5,9,20,23,25 In contrast, 6 of the 20 studies reported that nystagmus was found in less than 10% of participants.6,7,11,15,22,24 Lacrimal Disease. Regarding lacrimal disease, investigators reported the prevalence of lacrimal obstruction, congenital dacryocutaneous fistulae, and epiphora. Five studies reported the prevalence of lacrimal obstruction to be between 17% and 36%,7,8,10,13,20 whereas 2 reported it to be less than 10%.5,21 Roizen et al.21 recorded 1% of patients as
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having congenital dacryocutaneous fistulae. This disorder was also noted by Caputo et al.,5 although the prevalence was not given. Epiphora was noted in 15% of patients by Caputo et al.5 and in 32% of patients by Stephen et al.13 Palpebral Abnormalities. Regarding palpebral, or eyelid, abnormalities, investigators recorded the presence of blepharitis, ptosis, chalazion, sty, entropion, and eyelash deviation. Of the 11 studies that recorded the prevalence of blepharitis, 6 found the prevalence to be 10% or less7,9,12,13,21,24 and 3 reported figures between 15% and 30%.8,20,23 In contrast, the 2 remaining studies that recorded blepharitis found the prevalence to be between 30% and 50%.6,10 Ptosis was assessed by 4 studies, with reported figures ranging from 3% to 7%.9,13,21,23 Chalazion was assessed by Fimiani et al.7 and Liza-Sharmini et al.9 with findings of 1% and 3%, respectively. LizaSharmini et al.9 also found a 3% prevalence for sty and a 2% prevalence for entropion. Lateral eyelash diversion was found in 1% of those studied by Stephen et al.13 Corneal Abnormalities. Of the 8 studies that assessed keratoconus, 5 found it in none of their participants.9,10,12,20,21 The remaining results ranged from 1%16 to more than 12%.6,24 Corneal opacities were recorded by just 2 studies and were found in 1%20 and 6%24 of patients. Pupil Abnormalities. Pupil abnormalities were noted by Caputo et al.5 Ebeigbe and Akpalaba15 recorded the prevalence of abnormalities in the pupillary reflex and found that 17% of patients had a weak or absent direct reflex, whereas 26% had a weak or absent consensual reflex. No other studies assessed this area. Lens Abnormalities. Eight of 18 studies that assessed cataract found the prevalence to be 5% or less.12,15,16,19,20-22,26 An additional 8 studies found the prevalence to be between 6% and 15%.5-9,13,23,25 The remaining 2 studies found the prevalence to be 20%10 and 37%,24 respectively. Caputo et al.5 noted the presence of bilateral lens subluxation but did not give the prevalence. Optic Nerve Abnormalities. The prevalence of optic nerve elevation was recorded by 2 studies and found to have a prevalence of 3%.21,27 Optic disc pallor was also recorded by 2 studies, which found the prevalence to be 1%7 and 5%.25 Retinal Disorders. The prevalence of retinal abnormalities varied considerably. Retinal abnorwww.journalofpediatricophthalmology.com

Figure 3. Prevalence of glaucoma in patients with Down syndrome.

Figure 4. The prevalence of strabismus by type as identified by the pediatrician and the pediatric ophthalmologist.

malities were found in less than 10% of patients by 6 of the 12 studies in which they were recorded,7,13,19,21,23,24,26 whereas 3 studies found retinal abnormalities in between 10% and 20% of their participants.5,20,25 Finally, Da Cunha and Moreira8 found retinal abnormalities in 28% of patients and Berk et al.10 found abnormalities in 40% of patients. Detached retina was specifically recorded by 4 studies and was consistently found in less than 2% of study participants.8,10,19,21 Retinal hemorrhage was found in 1% of patients by 2 studies7,13 and coloboma was found in less than 3% of patients by Roizen et al.21 and Stewart et al.19 Three studies recorded the prevalence of extra retinal vessels, 2 of which found extra vessels in less than 15% of patients,20,25 whereas Berk et al.10 found them in 38%. One study recorded the prevalence of myopic chorioretinitis (3%) and tortuous vessels (1%).7 Macular hypoplasia was found to have a prevalence of 1% by Stephen et al.,13 whereas focal retinal pigment hypoplasia was found in 2% of patients by Kim et al.20 Retinal embolism was recorded in 1 study and found to have a prevalence of 2%26 and congenital stationary night blindness was found in 1% of those assessed by Roizen et al.21 Glaucoma. Figure 3 shows the prevalence of glaucoma in the 6 studies in which it was recorded. Four of the 6 studies found the prevalence of glaucoma to be 1% or less,12,13,20,21 whereas Caputo et al.5 found the prevalence to be 5% and Liza-Sharmini et al.9 reported a prevalence of 7%.
Comparison of Ophthalmic Abnormalities by Age

strabismus and anisometropia were both more common in the younger patients. Da Cunha and Moreira8 separated patients into three groups. Patients aged 0 to 4 years were found to be the most likely to have lacrimal obstruction and hyperopia and those aged 5 to 11 years were the most likely to have blepharitis, astigmatism, and retinal abnormalities, including an increased number of vessels. The final and smallest group was aged 12 to 18 years and had the highest prevalence of cataract, iris abnormalities, strabismus, myopia, amblyopia, and nystagmus.
Comparison of Pediatrician and Pediatric Ophthalmologist Examination

Cregg et al.14 divided their patients into one group aged less than 12 months and another aged 12 to 24 months. Astigmatism was found to be marginally more common in the older group; however,

Roizen et al.21 compared ophthalmic examination of children with Down syndrome by a general pediatrician with examination by a pediatric ophthalmologist. Overall, the pediatricians found 40% of the children to have some form of ophthalmic disorder compared with 61% identified by the ophthalmologists; therefore, the sensitivity of pediatric examination was 66%. All abnormalities identified by the pediatricians were found by the ophthalmologist; therefore, the specificity of pediatric examination was 100%. Pediatricians were found to be good at identifying ptosis, keratoconus, congenital glaucoma, detached retina, and nystagmus, for which their findings were the same or almost the same as the ophthalmologists. General pediatricians were less proficient at identifying strabismus, refractive error, lacrimal disease, and blepharitis. Figure 4 shows the findings for strabismus. The pediatricians noted two-thirds of the patients who were found to have strabismus by the ophthalmologists. All cases missed involved esodeviation. Regard79

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ing refractive error, pediatric examination identified slightly less than half of the 14% with hyperopia recorded by the ophthalmologist and nearly twothirds of the 22% with myopia. The pediatricians did not identify any lacrimal disease, although obstruction was found in 6% and fistula in 1% by the ophthalmologist, nor did they find coloboma or blepharitis in any children, although these were found in 1% and 9%, respectively. Half of the 6% of patients with amblyopia were identified by the pediatricians and cataract was found in 3% compared to 5% found by the ophthalmologists. DISCUSSION The most common disorders affecting vision in children with Down syndrome are poor visual acuity (30%9 to 62%15) and strabismus (3% to 57%5,22). Hyperopia, found in 4%16 to 59%,7 and astigmatism, found in 6%12 to 60%,8 were also common. Less common were myopia (8%15 to 41%16), blepharitis (3%13 to 47%6), and nystagmus (3%22 to 33%9). Although relatively rare in children with Down syndrome, glaucoma is an important condition that can result in complete loss of vision. Two studies found glaucoma affected more than 5% of patients.5,9 Early treatment of cataract can prevent amblyopia 28,29 and this important condition was found in more than 20% of patients by 2 studies.10,24 Of the ocular findings not affecting vision, the most common were slanting fissures and epicanthic folds. According to Roizen et al.21 pediatric examination alone is most inadequate for identification of strabismus and blepharitis, closely followed by refractive error and lacrimal disease. Overall, approximately 20% of disorders were not detected, and although some were only missed in a small number of children, conditions such as cataract are potentially serious if untreated.
Variation Between Findings

Several ophthalmic abnormalities showed a wide variation in prevalence between studies. Notably, the prevalence of Brushfield spots was found to be 81%,6 0%,12 and 3%.22 Wong and Ho12 suggested that the reason for this difference is that Brushfield spots are more easily seen in light-colored irides, which are uncommon in Hong Kong and India and far more common in the United States.30,31
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Other abnormalities showing a wide variation included refractive error. The prevalence of hyperopia varied between 59%7 and 4%.16 Studies that used a lower threshold for hyperopia found a higher prevalence than those who used a higher threshold; for example, Fimiani et al.7 used a definition of any refractive error greater than +0.75 D and reported a prevalence of 59%, whereas Mohd-Ali et al.11 defined refractive error as greater than +2.00 D and reported a prevalence of 10%. Similarly, variations in astigmatism can also be explained by the different definitions used. For example, Da Cunha and Moreira8 defined astigmatism as a refractive error greater than 0.50 D of cylinder and found a prevalence of 60%, whereas Liza-Sharmini et al.9 only listed those patients with a refractive error of 3.00 D of cylinder or greater and found a prevalence of less than 10%. Discrepancy in the prevalence of myopia recorded is more difficult to explain. Differences in the definitions used are unlikely to fully explain the variation; for example, Tsiaras et al.,16 Fimiani et al.,7 and Shapiro and France6 all defined severe myopia as refractive error greater than -5.00 D but found a prevalence of 41%, 9%, and 27%, respectively. One explanation for the different figures found by Shapiro and France6 might be that the study included patients aged up to 36 years old, whereas the other studies included no patients older than 19 years. Strabismus was found in only 3% of subjects by Kava et al.,22 whereas most other investigators reported a higher prevalence. The inclusion of 53 neonates, in whom strabismus would be difficult to assess, by Kava et al.22 might explain the discrepancy in the results. Increased prevalence of lacrimal obstruction was found by studies that generally tended to have a younger population. This is not surprising because obstruction is most common in the early years of life, resolving spontaneously in most children by the age of 2 years.32,33 Retinal abnormality appeared to be of varying prevalence. One explanation is that studies that found the lowest percentages of children13,19,26 recorded only those with a specific retinal condition, such as a retinal embolism, whereas others recorded any retinal abnormality. Berk et al.10 recorded the highest prevalence of retinal abnormality (40%) and in fact found only 2% of children to have retinal detachment, whereas the other 38% recorded were
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children with an abnormally high number of retinal vessels rather than any specific pathology. There was also variation in the overall prevalence of ophthalmic abnormalities. The low result (46%) found by Tsiaras et al.16 might be due to the fact that this study specified that patients must have a visual deficit to qualify as having an ophthalmic abnormality. Other studies had no such criterion and found a higher prevalence of ophthalmic abnormalities as a result.
Methodology Strengths and Limitations

This review has synthesized the existing literature relating to pediatric ophthalmic disorders in children with Down syndrome. A broad search strategy was employed and articles from a wide range of countries have been included. However, the effect of excluding non-English language articles, although likely minimal, should be considered. Although the search strategy was broad and systematic, it did not include the term mongolism. This term has rarely been used to describe Down syndrome since the 1960s34 and therefore it is likely that contemporary literature has not been excluded. Older articles would not have been able to confirm karyotype, and therefore may have included children without Down syndrome.
Implications

the overall percentage of children with ophthalmic abnormalities. This information would be useful to determine whether most children have an ophthalmic condition or whether several conditions are concentrated in a small percentage of individuals. The high prevalence of ophthalmic disorders in children with Down syndrome demonstrated by all studies highlights the need for these children to have ophthalmic assessment by a trained professional. A number of studies found conditions that are potentially detrimental to vision, such as cataract and glaucoma, in a significant minority of patients, reinforcing the need for early assessment and treatment of individuals with Down syndrome. The findings of Roizen et al.21 show that nonspecialist examination of children with Down syndrome, in isolation, may miss approximately 20% of ophthalmic disorders. These results support pediatric ophthalmic monitoring in combination with an ophthalmic screening program, rather than in place of one.
1. Patterson D. Genetic mechanisms involved in the phenotype of Down syndrome. Ment Retard Dev Disabil Res Rev. 2007;13:199206. 2. Sherman SL, Allen EG, Bean LH, Freeman SB. Epidemiology of Down syndrome. Ment Retard Dev Disabil Res Rev. 2007;13:221227. 3. Oliver CA. A clinical study of the ocular symptoms found in the so-called Mongolian type of idiocy. Trans Am Ophthalmol Soc. 1891;6:140-148. 4. Mallen CD, Peat G, Croft P. Quality assessment of observational studies is not commonplace in systematic reviews. J Clin Epidemiol. 2006;59:765-769. 5. Caputo AR, Wagner RS, Reynolds DR, Guo S, Goel AK. Down syndrome: clinical review of ocular features. Clin Pediatr. 1989;28:355-358. 6. Shapiro MB, France TD. The ocular features of Downs syndrome. Am J Ophthalmol. 1985;99:659-663. 7. Fimiani F, Lovine A, Carelli R, Pansini M, Sebastio G, Magli A. Incidence of ocular pathologies in Italian children with Down syndrome. Eur J Ophthalmol. 2007;17:817-822. 8. Da Cunha RP, Moreira JB. Ocular findings in Downs syndrome. Am J Ophthalmol. 1996;122:236-244. 9. Liza-Sharmini AT, Azian ZN, Zilfalil BA. Ocular findings in Malaysian children with Down syndrome. Singapore Med J. 2006;47:14-19. 10. Berk AT, Saatci AO, Ercal MD, Tunc M, Ergin M. Ocular findings in 55 patients with Downs syndrome. Ophthalmic Genet. 1996;17:15-19. 11. Mohd-Ali B, Mohammed Z, Norlaila MD, Mohd-Fadzil N, Rohani CC, Mohidin N. Visual and binocular status of Down syndrome children in Malaysia. Clin Experiment Optom. 2006;89:150-154. 12. Wong V, Ho D. Ocular abnormalities in Down syndrome: an analysis of 140 Chinese children. Pediatr Neurol. 1997;16:311314. 13. Stephen E, Dickson J, Kindley AD, Scott CC, Charleton PM. Surveillance of vision and ocular disorders in children with Down syndrome. Devel Med Child Neurol. 2007;49:513-515. 14. Cregg M, Woodhouse JM, Stewart RE, et al. Development of

REFERENCES

Extensive literature describes the ophthalmic sequelae of Down syndrome. However, to gauge the most appropriate referral age for children with Down syndrome to ophthalmic services, it would be useful to group children by age, which was done by only 2 of 23 studies.8,14 Therefore, further studies should examine the prevalence of ophthalmic disorders by age group to determine the most appropriate age for a screening service to be implemented. Limited work compares non-specialist and specialist examination. Further studies could compare ad hoc ophthalmic referral by a pediatrician to a routine ophthalmic screening program. Additionally, the limited work using control groups prevents easy comparison of the rate of ophthalmic disorders in children with Down syndrome and the general pediatric population. Some ocular disorders were not well investigated, including visual acuity, eyelid disease (such as ptosis), pupil reflex abnormalities, and corneal opacities. Furthermore, few studies commented on

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15. 16. 17. 18. 19.

20. 21. 22. 23. 24.

refractive error and strabismus in children with Down syndrome. Invest Ophthalmol Vis Sci. 2003;44:1023-1030. Ebeigbe JA, Akpalaba R. Ocular health status of subjects with Downs syndrome in Benin City, Nigeria. African J Med Medical Sci. 2006;35:365-368. Tsiaras WG, Pueschel S, Keller C, Curran R, Giesswein S. Amblyopia and visual acuity in children with Downs syndrome. Br J Ophthalmol. 1999;83:1112-1114. Yurdakul NS, Ugurlu S, Maden A. Strabismus in Down syndrome. J Pediatr Ophthalmol Strabismus. 2006;43:27-30. Bromham NR, Woodhouse JM, Cregg M, Webb E, Fraser WI. Heart defects and ocular anomalies in children with Downs syndrome. Br J Ophthalmol. 2002;86:1367-1368. Stewart RE, Woodhouse JM, Cregg M, Pakeman VH. Association between accommodative accuracy, hypermetropia, and strabismus in children with Down syndrome. Optom Vis Sci. 2007;84:149155. Kim JH, Hwang J-M, Kim HJ, Yu YS. Characteristic ocular findings in Asian children with Down syndrome. Eye. 2002;16:710714. Roizen NJ, Mets MB, Blondis TA. Ophthalmic disorders in children with Down syndrome. Dev Med Child Neurol. 1994;36:594600. Kava MP, Tullu MS, Muranjan MN, Girisha KM. Down syndrome: clinical profile from India. Arch Med Res. 2004;35:31-35. Courage ML, Adams RJ, Hall EJ. Contrast sensitivity in infants and children with Down syndrome. Vis Res. 1997;37:15451555. Merrick J, Koslowe K. Refractive errors and visual anomalies in Down syndrome. Down Syndrome Research and Practice.

2001;6:131-133. 25. Wagner RS, Caputo AR, Reynolds D. Nystagmus in Downs syndrome. Ophthalmology. 1990;97:1439-1444. 26. Courage ML, Adams RJ, Reyno S, Kwa P-G. Visual acuity in infants and children with Down syndrome. Dev Med Child Neurol. 1994;36:586-593. 27. Esmaili N, Bradfield YS. Pseudotumor cerebri in children with Down syndrome. Ophthalmology. 2007;114:1773-1778. 28. Lloyd IC, Ashworth J, Biswas S, Abadi RV. Advances in the management of congenital and infantile cataract. Eye. 2007;21:13011309. 29. Bothe N, Lieb B, Schafer WD. Development of impaired vision in mentally handicapped children [article in German]. Klin Monatsbl Augenheilkd. 1991;198:509-514. 30. Grant MD, Lauderdale DS. Cohort effects in a genetically determined trait: eye colour among US whites. Ann Hum Biol. 2002;29:657-666. 31. Sturm RA, Frudakis TN. Eye colour: portals into pigmentation genes and ancestry. Trends Genet. 2004;20:327-332. 32. Schellini SA, Ferreira Ribeiro SC, Jaqueta E, Padovani CR, Padovani CR. Spontaneous resolution in congenital nasolacrimal obstruction after 12 months. Semin Ophthalmol. 2007;22:7174. 33. MacEwen CJ, Young JD, Barras CW, Ram B, White PS. Value of nasal endoscopy and probing in the diagnosis and management of children with congenital epiphora. Br J Ophthalmol. 2001;85:314318. 34. Miller FA. Dermatoglyphics and the persistence of Mongolism. Social Studies Sci. 2003;33:75-94.

The correct answer to Whats Your Diagnosis? is late-recognized primary congenital glaucoma.
1. Ho CL, Walton DS. Primary congenital glaucoma: 2004 update. J Pediatr Ophthalmol Strabismus. 2004;41:271-301. 2. Walton DS, Katasvounidou G. Newborn primary congenital glaucoma: 2005 update. J Pediatr Ophthalmol. 2005;46:333-341. 3. DeLuise VP, Anderson DR. Primary infantile glaucoma. Surv Ophthalmol. 1983;28:119. 4. Nagao K, Walton DS. Spontaneous resolution of primary congenital glaucoma. J Pediatr Ophthalmol Strabismus. In press.

REFERENCES

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