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1983 1
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Page 1
Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX).
Salen G, Steiner RD. Salen G, et al. J Inherit Metab Dis. 2017 Nov;40(6):771-781. doi: 10.1007/s10545-017-0093-8. Epub 2017 Oct 4. J Inherit Metab Dis. 2017. PMID: 28980151 Review.
Hallmark clinical manifestations of CTX include chronic diarrhea, bilateral cataracts, tendon xanthomas, and neurologic dysfunction. ...Treatment with chenodeoxycholic acid (CDCA; chenodiol) is the current standard of care. CDCA can help restore normal sterol …
Hallmark clinical manifestations of CTX include chronic diarrhea, bilateral cataracts, tendon xanthomas, and neurologic dysfun …
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi E, Clayton-Smith J, Douzgou S, Ramsden SC, Ingram S, Hall G, Hardcastle CL, Fletcher TA, Taylor RL, Ellingford JM, Newman WD, Fenerty C, Sharma V, Lloyd IC, Biswas S, Ashworth JL, Black GC, Sergouniotis PI. Lenassi E, et al. Genet Med. 2020 Apr;22(4):745-751. doi: 10.1038/s41436-019-0722-8. Epub 2019 Dec 18. Genet Med. 2020. PMID: 31848469 Free PMC article.
The cohort was collected over a 7-year period (2011-2018) and included 74 children with bilateral cataracts, 8 with bilateral ectopia lentis, 28 with bilateral anterior segment dysgenesis, 32 with albinism, and 59 with inherited retinal disorders. ...T …
The cohort was collected over a 7-year period (2011-2018) and included 74 children with bilateral cataracts, 8 with bilater …
Global Practice Patterns in the Management of Infantile Cataracts.
Koo EB, VanderVeen DK, Lambert SR. Koo EB, et al. Eye Contact Lens. 2018 Nov;44 Suppl 2(Suppl 2):S292-S296. doi: 10.1097/ICL.0000000000000461. Eye Contact Lens. 2018. PMID: 29369235 Free PMC article.
OBJECTIVES: Surveys are an important tool to assess the impact of research on physicians' approach to patient care. This survey was conducted to assess current practice patterns in the management of infantile cataracts in light of the findings of the Infant Aphakia …
OBJECTIVES: Surveys are an important tool to assess the impact of research on physicians' approach to patient care. This survey was c …
Congenital cataract: management and results.
Jain IS, Pillai P, Gangwar DN, Gopal L, Dhir SP. Jain IS, et al. J Pediatr Ophthalmol Strabismus. 1983 Nov-Dec;20(6):243-6. doi: 10.3928/0191-3913-19831101-07. J Pediatr Ophthalmol Strabismus. 1983. PMID: 6644486
Visual results were also better in patients without nystagmus, 34% of whom attained 6/24 or better vision, while in cases with nystagmus, only 15% could come up to this level. Cataracts necessitating early surgery had a worse prognosis than cataracts necessitating l …
Visual results were also better in patients without nystagmus, 34% of whom attained 6/24 or better vision, while in cases with nystagmus, on …
Assessment of risk factors for infantile cataracts using a case-control study: National Birth Defects Prevention Study, 2000-2004.
Prakalapakorn SG, Rasmussen SA, Lambert SR, Honein MA; National Birth Defects Prevention Study. Prakalapakorn SG, et al. Ophthalmology. 2010 Aug;117(8):1500-5. doi: 10.1016/j.ophtha.2009.12.026. Epub 2010 Apr 3. Ophthalmology. 2010. PMID: 20363508 Free PMC article.
Very low birth weight (<1500 g) was associated with both unilateral (adjusted odds ratio [OR], 6.0; 95% confidence interval [CI], 2.2-16.3) and bilateral (OR, 13.2; 95% CI, 4.2-41.1) cataracts, whereas low birth weight (1500-2499 g) was only associated with bi …
Very low birth weight (<1500 g) was associated with both unilateral (adjusted odds ratio [OR], 6.0; 95% confidence interval [CI], 2.2-16. …
Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis.
Song E, Luo N, Alvarado JA, Lim M, Walnuss C, Neely D, Spandau D, Ghaffarieh A, Sun Y. Song E, et al. Sci Rep. 2017 May 4;7(1):1442. doi: 10.1038/s41598-017-01447-3. Sci Rep. 2017. PMID: 28473699 Free PMC article.
Mutations in the OCRL1 gene result in the oculocerebrorenal syndrome of Lowe, with symptoms including congenital bilateral cataracts, glaucoma, renal failure, and neurological impairments. ...
Mutations in the OCRL1 gene result in the oculocerebrorenal syndrome of Lowe, with symptoms including congenital bilateral catarac …
Contact lenses for the treatment of pediatric cataracts.
Ma JJ, Morad Y, Mau E, Brent HP, Barclay R, Levin AV. Ma JJ, et al. Ophthalmology. 2003 Feb;110(2):299-305. doi: 10.1016/S0161-6420(02)01557-9. Ophthalmology. 2003. PMID: 12578770
OBJECTIVE: To evaluate the experiences, attitudes, and perceptions of the caregivers of children with cataracts who were visually rehabilitated with contact lenses. PARTICIPANTS: One hundred twenty-three caregivers of children <8.1 years old treated for unilateral and …
OBJECTIVE: To evaluate the experiences, attitudes, and perceptions of the caregivers of children with cataracts who were visually reh …
Preliminary experience in treatment of papillary and macular retinoblastoma: evaluation of local control and local complications after treatment with linear accelerator-based stereotactic radiotherapy with micromultileaf collimator as second-line or salvage treatment after chemotherapy.
Pica A, Moeckli R, Balmer A, Beck-Popovic M, Chollet-Rivier M, Do HP, Weber DC, Munier FL. Pica A, et al. Int J Radiat Oncol Biol Phys. 2011 Dec 1;81(5):1380-6. doi: 10.1016/j.ijrobp.2010.07.033. Epub 2010 Oct 6. Int J Radiat Oncol Biol Phys. 2011. PMID: 20932660
Of the 4 patients, 2 had developed focal microangiopathy 20 months after SRT; 1 had developed a transient recurrence of retinal detachment; and 1 had developed bilateral cataracts. No optic neuropathy was observed. CONCLUSIONS: Linear accelerator-based SRT for papil …
Of the 4 patients, 2 had developed focal microangiopathy 20 months after SRT; 1 had developed a transient recurrence of retinal detachment; …
Early treatment of congenital unilateral cataract minimizes unequal competition.
Birch EE, Stager D, Leffler J, Weakley D. Birch EE, et al. Invest Ophthalmol Vis Sci. 1998 Aug;39(9):1560-6. Invest Ophthalmol Vis Sci. 1998. PMID: 9699545
PURPOSE: Dense congenital unilateral cataracts may compromise visual development through visual deprivation and biased interocular competition, whereas dense congenital bilateral cataracts compromise visual development primarily through visual deprivation alo …
PURPOSE: Dense congenital unilateral cataracts may compromise visual development through visual deprivation and biased interocular co …