Down Syndrome
Down Syndrome (Mongolism; Trisomy G; Trisomy 21 Syndrome; Mongoloid Idiocy)
General: Trisomy of chromosome 21.
Ocular: Hypertelorism; epicanthus; blepharitis; ectropion; nystagmus; esotropia; high myopia (30%); hyperopia; color blindness; yellow spots on the iris; hypoplasia of the iris; blepharoconjunctivitis; lens opacities (50%); keratoconus (may be acute); corneal hydrops; corneal ectasia; corneal edema; leukoma; lateral displacement of canaliculi and puncta; megaloblepharon; euryblepharon; decreased accommodation; Leber congenital amaurosis.
Clinical: Mental retardation; skeletal abnormalities; overextension of joints; deformed and low-set ears; short fifth finger; transverse palmar crease; fissured tongue; heart anomalies.
Coates DK, McCreery KB, Plager DA, et al. Nasolacrimal outlaw drainage anomalies in Down’s Syndrome. Ophthalmology 2003; 110: 1437-1441.
Fraunfelder FT, Roy FH. Current Ocular Therapy, 5th ed. Philadelphia: WB Saunders, 2000.
Down JLH. Observations on ethnic classifications of idiots. Clin Lect Rep Lond Hosp 1866; 111:259.
Harley RD, ed. Pediatric Ophthalmology, 4th ed. Philadelphia: WB Saunders, 1998.
Hayasaka S, et al. Leber congenital amaurosis in an infant with Down syndrome. Ann Ophthalmol 1992; 24:250-252.
Markowitz GD, et al. Congenital euryblepharon and nasolacrimal anomalies in a patient with Down syndrome. J Pediatr Ophthalmol Strabismus 1994; 31:330-331.
Woodhouse JM, et al. Reduced accommodation in children with Down syndrome. Invest Ophthalmol Vis Sci 1993; 34:2382-2387.
General: Trisomy of chromosome 21.
Ocular: Hypertelorism; epicanthus; blepharitis; ectropion; nystagmus; esotropia; high myopia (30%); hyperopia; color blindness; yellow spots on the iris; hypoplasia of the iris; blepharoconjunctivitis; lens opacities (50%); keratoconus (may be acute); corneal hydrops; corneal ectasia; corneal edema; leukoma; lateral displacement of canaliculi and puncta; megaloblepharon; euryblepharon; decreased accommodation; Leber congenital amaurosis.
Clinical: Mental retardation; skeletal abnormalities; overextension of joints; deformed and low-set ears; short fifth finger; transverse palmar crease; fissured tongue; heart anomalies.
Coates DK, McCreery KB, Plager DA, et al. Nasolacrimal outlaw drainage anomalies in Down’s Syndrome. Ophthalmology 2003; 110: 1437-1441.
Fraunfelder FT, Roy FH. Current Ocular Therapy, 5th ed. Philadelphia: WB Saunders, 2000.
Down JLH. Observations on ethnic classifications of idiots. Clin Lect Rep Lond Hosp 1866; 111:259.
Harley RD, ed. Pediatric Ophthalmology, 4th ed. Philadelphia: WB Saunders, 1998.
Hayasaka S, et al. Leber congenital amaurosis in an infant with Down syndrome. Ann Ophthalmol 1992; 24:250-252.
Markowitz GD, et al. Congenital euryblepharon and nasolacrimal anomalies in a patient with Down syndrome. J Pediatr Ophthalmol Strabismus 1994; 31:330-331.
Woodhouse JM, et al. Reduced accommodation in children with Down syndrome. Invest Ophthalmol Vis Sci 1993; 34:2382-2387.
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