American journal of ophthalmology
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The biochemical hallmark of nephropathic cystinosis is the intralysosomal accumulation of free cystine in various organs, including the conjunctiva, cornea, bone marrow, leukocytes, lymph nodes, and internal organs. A patient with the infantile form of nephropathic cystinosis develops several renal tubular malfunctions during the first year of life; these eventually lead to end-stage renal failure and eventual death by the time the patient is 10 years of age. Ocular changes are prominent and may be so typical that an early diagnosis can be achieved by an ophthalmologic examination before the nephropathic signs become evident.
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We have developed a classification system for the acute phases of retinopathy of prematurity based on more than 13,000 ophthalmoscopic examinations of more than 3,400 premature infants between 1968 and 1982. Two forms of the active disease exist. ⋯ The five grades progress from peripheral vascular abnormalities (Grade 1) through a demarcation line (Grade 2) and extraretinal neovascularization (Grade 3) to partial (Grade 4) or total (Grade 5) retinal detachment. The persistence of abnormal retinal vessels during the first year of life is considered "transitional" retinopathy of prematurity unless unequivocal cicatricial changes with macular distortion develop.
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We measured relative afferent pupillary defects in 105 patients with various stages of optic neuritis. We detected pupillary defects in 96% of acute unilateral cases, 92% of recovered unilateral cases 91.7% of acute cases with evidence of optic neuropathy in the other eye, and 65.8% of recovered bilateral cases. With careful testing, one can find relative afferent pupillary defects in nearly all patients with unilateral optic neuritis and in most patients with bilateral disease. A patient without a pupillary defect after apparent unilateral optic neuritis frequently has evidence of disease in the other eye when visual-evoked potentials are tested.
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We examined 11 overweight men, ranging in age from 34 to 56 years, who had the floppy eyelid syndrome, a disorder of unknown origin manifested by an easily everted, floppy upper eyelid and papillary conjunctivitis of the upper palpebral conjunctiva. The upper eyelid everts during sleep, resulting in irritation, papillary conjunctivitis, and conjunctival keratinization. Effective treatment consists of preventing the upper eyelid from everting while the patient is sleeping.