Biomaterial Database

[Ophthalmologic symptoms of Down's syndrome (author's transl)]. 1977

R Rochels, and A Nover, and F Schmid

After a short description of the general symptoms of Down's syndrome, the ophthalmologic aspects of the disease are discussed. The study is based on the examination of 1047 mongolian children. The various eye-symptoms were present in different frequencies according to sex and type. The results were compared with those in the literature of the last 100 years and identical as well as highly significant divergent values were found.

UI	MeSH Term	Description	Entries
D007640	Keratoconus	A noninflammatory, usually bilateral protrusion and thinning of the CORNEA, the apex being displaced downward and nasally. It occurs most commonly in females at about puberty. Two closely related noninflammatory corneal ectasias are pellucid marginal degeneration and keratoglobus.	Keratoglobus,Pellucid Marginal Corneal Degeneration,Pellucid Marginal Degeneration,Degeneration, Pellucid Marginal,Marginal Degeneration, Pellucid,Pellucid Marginal Degenerations
D009759	Nystagmus, Pathologic	Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)	Convergence Nystagmus,Horizontal Nystagmus,Jerk Nystagmus,Pendular Nystagmus,Periodic Alternating Nystagmus,Rotary Nystagmus,See-Saw Nystagmus,Vertical Nystagmus,Conjugate Nystagmus,Dissociated Nystagmus,Fatigable Positional Nystagmus,Multidirectional Nystagmus,Non-Fatigable Positional Nystagmus,Permanent Nystagmus,Rebound Nystagmus,Retraction Nystagmus,Rotational Nystagmus,Spontaneous Ocular Nystagmus,Symptomatic Nystagmus,Temporary Nystagmus,Unidirectional Nystagmus,Non Fatigable Positional Nystagmus,Nystagmus, Conjugate,Nystagmus, Convergence,Nystagmus, Dissociated,Nystagmus, Fatigable Positional,Nystagmus, Horizontal,Nystagmus, Jerk,Nystagmus, Multidirectional,Nystagmus, Non-Fatigable Positional,Nystagmus, Pendular,Nystagmus, Periodic Alternating,Nystagmus, Permanent,Nystagmus, Rebound,Nystagmus, Retraction,Nystagmus, Rotary,Nystagmus, Rotational,Nystagmus, See-Saw,Nystagmus, Spontaneous Ocular,Nystagmus, Symptomatic,Nystagmus, Temporary,Nystagmus, Unidirectional,Nystagmus, Vertical,Ocular Nystagmus, Spontaneous,Pathologic Nystagmus,Positional Nystagmus, Non-Fatigable,See Saw Nystagmus
D001766	Blindness	The inability to see or the loss or absence of perception of visual stimuli. This condition may be the result of EYE DISEASES; OPTIC NERVE DISEASES; OPTIC CHIASM diseases; or BRAIN DISEASES affecting the VISUAL PATHWAYS or OCCIPITAL LOBE.	Amaurosis,Bilateral Blindness,Blindness, Bilateral,Blindness, Legal,Blindness, Monocular,Blindness, Unilateral,Sudden Visual Loss,Unilateral Blindness,Blindness, Acquired,Blindness, Complete,Blindness, Hysterical,Blindness, Transient,Acquired Blindness,Amauroses,Bilateral Blindnesses,Complete Blindness,Hysterical Blindness,Legal Blindness,Monocular Blindness,Sudden Visual Losses,Transient Blindness,Visual Loss, Sudden
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D003316	Corneal Diseases	Diseases of the cornea.	Corneal Disease,Disease, Corneal,Diseases, Corneal
D004314	Down Syndrome	A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)	Mongolism,Trisomy 21,47,XX,+21,47,XY,+21,Down Syndrome, Partial Trisomy 21,Down's Syndrome,Partial Trisomy 21 Down Syndrome,Trisomy 21, Meiotic Nondisjunction,Trisomy 21, Mitotic Nondisjunction,Trisomy G,Downs Syndrome,Syndrome, Down,Syndrome, Down's
D005094	Exophthalmos	Abnormal protrusion of both eyes; may be caused by endocrine gland malfunction, malignancy, injury, or paralysis of the extrinsic muscles of the eye.	Proptosis,Proptoses
D005128	Eye Diseases	Diseases affecting the eye.	Eye Disorders,Eye Disease,Eye Disorder
D005132	Eye Manifestations	Ocular disorders attendant upon non-ocular disease or injury.	Eye Manifestation,Manifestation, Eye,Manifestations, Eye
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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