Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Our review of previously published reports and familial cases revealed that corneal clouding in autosomal recessive congenital hereditary endothelial dystrophy was present at birth or within the neonatal period. Further, corneal changes with time were minimal, nystagmus was often present, and there were no other signs or symptoms. Patients with autosomal dominant endothelial dystrophy usually had clear corneas early in life; corneal opacification was slowly progressive, nystagmus was infrequent, and photophobia, as well as epiphora, may have been the first indications of the dystrophy. As there is usually little or no congenital evidence of the dominant type, "infantile" or "autosomal dominant" hereditary endothelial dystrophy would be more appropriate names for the dominant variant.
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PMID:Clinical differentiation of recessive congenital hereditary endothelial dystrophy and dominant hereditary endothelial dystrophy. 30 59

We report the externally apparent outcome in the natural history cohort (n = 4099) that was followed up prospectively in the Multicenter Trial of Cryotherapy for Retinopathy of Prematurity. The overall incidence of an adverse cosmetic outcome in the survivors who were examined 12 months post term (n = 2759) was 15.1%. Adverse cosmetic outcomes included strabismus (12.8%), nystagmus (3.3%), total retrolental membrane (1%), epiphora (0.6%), corneal opacity (0.6%), cataract (0.3%), and episcleral hyperemia (0.3%). A comparable subgroup examined 24 months post term showed strabismus (14.4%), nystagmus (2.2%), epiphora (0.5%), corneal opacity (0.7%), cataract (0.5%), episcleral hyperemia (0.5%), lid fissure asymmetry (2.4%), and corneal diameter asymmetry (2.0%). The rate of adverse aesthetic outcome was greatest in eyes that had developed more severe acute retinopathy of prematurity and an unfavorable structural outcome. In patients with bilateral threshold retinopathy of prematurity who underwent no therapeutic ocular procedures, other than randomized assignment to undergo cryotherapy in one eye, more frequent adverse cosmetic outcomes were found in the untreated eyes.
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PMID:Ocular cosmesis in retinopathy of prematurity. The Cryotherapy for Retinopathy of Prematurity Cooperative Group. 149 22

Introduction Congenital nasolacrimal duct obstruction (CNLDO) is one of the most common congenital abnormalities encountered by pediatric ophthalmologists, occurring in 20-30% of all neonates (range: 6-84%). The majority of the cases (up to 90%) resolve within the first year of birth. Many syndromes, such as Down syndrome, are associated with congenital lacrimal anomalies. The prevalence of nasolacrimal anomalies in Down syndrome has been reported to be 22%. Methods This was a retrospective study of all children diagnosed with Down syndrome at King Abdulaziz University Hospital (KAUH), Jeddah, Saudi Arabia between 2010 and 2015. Result The total sample size was 175 patients; 15 patients were diagnosed with CNLDO with a prevalence of 8.57%. The prevalence among the gender was 53.3% male and 46.7% female, with a median age of eight years. Regarding ocular disorders, 20.0% cases were diagnosed with refractive error, 13.3% with nystagmus, and 13.3% with blepharitis. Myopia, strabismus, conjunctivitis, and cataract were observed in four different patients, and the remaining four cases reported no other ocular disorders. Tearing, alone or associated with other symptoms, was the main presentation of CNLDO (86.7%). Bilateral CNLDO was the most commonly observed abnormality, alone or associated with others. The median age at diagnosis was one year. Of the cases, 53.3% were treated medically, 26.7% by surgical correction, and 13.3% required both. Conclusion Bilateral CNLDO is the most observed disease pattern among children with Down syndrome. In our study, tearing was the most common clinical presentation and most cases were treated medically. Down syndrome patients should be carefully examined for nasolacrimal duct obstructions and treated medically.
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PMID:Prevalence and Treatment Outcome of Nasolacrimal Duct Obstruction in Saudi Children with Down Syndrome. 3197 86