Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Aniridia, Wilms tumor, genitourinary abnormalities, growth and mental retardation are the cardinal features of the WAGR 11p13 deletion syndrome. The Potocki-Schaffer syndrome or proximal 11p deletion syndrome (previously DEFECT11 syndrome) is a contiguous gene syndrome associated with deletions in 11p11.2, principal features of which are multiple exostoses and enlarged parietal foramina. Mental handicap, facial dysmorphism and craniosynostosis may also be associated. We report a patient with combined WAGR and Potocki-Shaffer syndromes, and obesity. She presented with aniridia, cataract, nystagmus, corneal ulcers and bilateral congenital ptosis. A left nephroblastoma was detected at 15 months. Other features included moderate developmental delay, growth deficiency, facial dysmorphism, multiple exostoses and cranial lacunae. High-resolution and molecular cytogenetics confirmed a del(11)(p11.2p14.1) deletion with a proximal breakpoint between the cosmid DO8153 and the BAC RP11-104M24 to a distal breakpoint between cosmids CO8160 (D11S151) and F1238 (D11S1446). The deletion therefore includes EXT2, ALX4, WT1 and PAX6. This case appears to be the second patient reported with this combined deletion syndrome and confirms the association of obesity in the WAGR spectrum, a feature previously reported in four cases, and for which the acronym WAGRO has been suggested. Molecular and follow-up data on the original WAGRO case are briefly presented.
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PMID:Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion. 1570 31

Bilateral congenital cataract is the most common cause of treatable childhood blindness. Nuclear cataract is usually present at birth and is nonprogressive, whereas lamellar cataract usually develops later and is progressive. Surgery must be performed promptly in cases with dense congenital cataract; if nystagmus has developed, the amblyopia is irreversible. A treatment regimen based on surgery within 2 months of birth combined with prompt optical correction of the aphakia and aggressive occlusion therapy with frequent follow-up has been successful in unilateral and bilateral cases. Both anterior and posterior capsulorhexes are performed in most children. Intraocular lens implantation can be performed safely in children older than 1 year. Anterior dry vitrectomy is recommended in preschool children to avoid after-cataract. Opacification of the visual axis is the most common complication of cataract surgery in children. Secondary glaucoma is the most sight-threatening complication and is common if surgery is performed early. Life-long follow-up is essential in these cases.
J Cataract Refract Surg 2005 Apr
PMID:Cataracts in children. 1589 63

The possibility that infantile nystagmus (IN) may reflect a failure in early sensorimotor integration has been proposed for more than a century, but is only recently being borne out in animal studies. The underlying neural and genetic substrate for this plasticity is complex. We propose that, in most cases, IN develops as a developmental response to reduced contrast sensitivity to high-spatial frequencies in an early "critical period," however caused, whether by structural malformations (e.g. foveal hypoplasia) or poor optics (e.g. cataract). As shown by psychophysics, contrast sensitivity to low spatial frequencies is enhanced by motion of the image across the retina. Based on our previous theoretical study (Harris & Berry, Nonlinear Dynamics, 2006), we argue that the best compromise between moving the image and maintaining the image near the fovea (or its remnant) is to oscillate the eyes with jerk nystagmus with increasing velocity waveforms, as seen empirically. The generation of jerk waveforms relies heavily on the saccadic system, which is immature in infancy. Pendular waveforms may therefore provide an alternative to jerk waveforms, and may explain why they are seen more often in young infants. We discuss the implications of this developmental model for the need to synchronize sensory and motor developments in normal development. Failure of this synchronization may also explain some idiopathic cases.
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PMID:A developmental model of infantile nystagmus. 1670 71

Aniridia consists in a congenital absence of the iris, with incidence varying from 1/64,000 to 1/96,000. This complex embryologic malformation involves the iris, trabecula, and cornea with limbal stem cell deficiency. Aniridia is a genetic haplo-insufficiency expression of the PAX6 gene located on chromosome 11p13. The associated clinical ocular signs could be congenital cataract, congenital glaucoma (the most common complication), keratopathy, ptosis, nystagmus, foveal aplasia, or microphthalmia. More than half of aniridic patients will develop glaucoma, so a regular complete tensional check-up is recommended. Central pachymetry is thicker than in the general population and overestimates ocular pressure if a corrective coefficient is not used. When glaucoma is diagnosed, medical or surgical treatment should be adapted to the child's age. In younger children, trabeculotomy is preferable to trabeculectomy in the first step if the cornea is clear enough. In older children or teenagers, a classical medical treatment must be initiated first, but surgical treatment will often be needed later. Trabeculectomy is the surgical procedure to choose for these older patients or can be combined with cataract surgery in adults. In severe glaucoma, after failure of trabeculectomy with or without mitomycin C, glaucoma surgery with drainage placement could be necessary to control ocular pressure and preserve vision. The outcome of glaucoma in aniridia is always severe and requires medical and surgical treatment adapted from infancy to adulthood.
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PMID:[Glaucoma in aniridia]. 1731 8

Congenital and infantile cataracts produce deprivation amblyopia and can thus cause lifelong visual impairment. Successful management is dependent on early diagnosis and referral for surgery when indicated. Accurate optical rehabilitation and postoperative supervision are essential.The timing of surgery and its relationship to the duration of deprivation is important. Unilateral congenital cataract surgery within 6 weeks of birth produces the best outcomes. The equivalent 'latent' period for bilateral visual deprivation may be longer at around 10 weeks. Visual deprivation has a significant impact on the development of fixation stability. Major form deprivation, even after early surgery, leads to nystagmus. This is mostly manifest latent nystagmus (MLN). The latent period for fixation stability may be as short as 3 weeks. Preoperative congenital nystagmus (CN) can convert to more benign MLN after surgery. Infantile IOL implantation is becoming increasingly accepted. A satisfactory long-term refractive result requires that allowance be made for childhood axial growth and myopic shift. In a series of 25 infants (33 eyes) implanted before 12 months of age, the mean myopic shift at 12 months was 4.83 D. This increased to 5.3 D in infants implanted before 10 weeks. The initial desired refractive outcome following IOL implantation is thus hypermetropia, with the degree dependent on the age of the child. Glaucoma or ocular hypertension is a common complication following paediatric cataract surgery. Microphthalmia and surgery in early infancy are risk factors. Tonometry results may be influenced by the increased corneal thickness seen in aphakic and pseudophakic children. The long-term prognosis of eyes with aphakic glaucoma is not necessarily poor but intraocular pressure control may require three or more medications. Surgical intervention appears to be necessary in over a quarter of eyes. Posterior capsule opacification (PCO) is common in infants undergoing primary lens implantation. Primary capsulotomy and anterior vitrectomy reduce the risk of PCO. In the absence of anterior vitrectomy, primary posterior capsulotomy does not prevent visual axis opacification. Further developments will continue to be driven by clinical research. The prevention of capsule opacification and cellular proliferation may in future be achieved by the use of devices to specifically target epithelial cells at surgery.
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PMID:Advances in the management of congenital and infantile cataract. 1791 33

Bilateral congenital cataract is the most common cause of treatable childhood blindness. Nuclear cataract is usually present at birth and is non-progressive, while lamellar cataract usually develops later and is progressive. Prompt surgery has to be performed in cases with dense congenital cataract: if nystagmus has developed, the amblyopia is unfortunately irreversible. A treatment regime based on surgery within 2 months of life, combined with prompt optical correction of the aphakia and occlusion therapy with frequent follow-up, have been successful in both unilateral and bilateral cases. The surgery ought to include anterior and posterior capsulorexis in all children at the present time. Intraocular lens implantation has been safely performed below the age of 1 year and has also been successfully performed in bilateral cases. Anterior dry vitrectomy should be performed in preschool children to avoid visual axis opacification. Visual axis opacification is the most common complication found after cataract surgery in children. Secondary glaucoma is by far the most sight-threatening complication and is, unfortunately, common in the newborn so lifelong follow-up is essential in these cases.
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PMID:Paediatric cataract surgery. 1794 24

Cataract is one of the leading causes of blindness in children. There are very few studies from Nepal on pediatric cataract. The present study is an attempt to get information on clinical profile and etiology of cataract in pediatric age group with an emphasis on preventable factors. A hospital based cross sectional study was carried out in a tertiary referral hospital in Eastern region of Nepal. After obtaining detail history, all children upto 14 years of age with cataract underwent examination under slit lamp or the operating microscope. Cataract is broadly classified into traumatic and non-traumatic groups. TORCH test for rubella, random blood sugar, urine reducing substance, chromosomal analysis were done in children with non-traumatic cataract Out of 172 children 34 (88%) had non-traumatic and 65 (12%) traumatic cataract. The mean age was 5.63 +/- 3.59 years and 7.39 +/- 3.94 years in non-traumatic group and traumatic group respectively. 8 (9.82%) patients with non-traumatic cataract were below the age of one year. Among non-traumatic cataract, 42 (37.50%) had hereditary, 9 (8.03%) had systemic syndromes, 5 (4.46%) had cataract due to maternal infection, 3 (2.67%) had metabolic disorder. While 11 (9.82%) cataract were associated with other ocular dysmorphology, cause was not ascertained in 31 (idiopathic). 11 (9.82%) had complicated cataract. 24.1% (n=27) of children with bilateral cataract had nystagmus at the time of presentation to hospital. In traumatic group, play related injuries were more common than household injuries. A very few children were below one year of age at the time of presentation to hospital. Establishing pediatric vision screening program in the primary health posts, genetic counseling, maternal immunization, health education to school children and use of safety glasses are some important measures that could prevent cataract blindness in our children.
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PMID:Etiology and clinical profile of pediatric cataract in a tertiary care center of Eastern Nepal. 1827 62

The eye trouble of organic origin must be diagnosed and treated before the installation of an irreversible amblyopia. This early diagnosis rests on the observation of the child by his parents but especially on the knowledge of the various clinical signs by the general practitioner or the pediatrist. Thus, the blindness and the behaviors which is referred to it (leucocorie, strabism, nystagmus, or sometimes exophtalmy) must alert the doctor who will then address the child towards the ophthalmologist. This one will be able to highlight a malformation of the anterior segment, a cataract or glaucoma, an ocular inflammation or its after-effects, retinal, orbital or optical ways anomaly. The treatment will have to then allow a fast visual rehabilitation in order to treat the residual amblyopia as fast as possible. In some cases, it will direct the child and his parents towards a structure specialized in order to develop to the maximum of the sometimes unexpected visual capacities.
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PMID:[Organic causes of bad visual development in the child]. 1832 37

The Heimann-Bielschowsky phenomenon (HBP) refers to coarse vertical oscillation of the eye with impaired vision. The ocular movements are strictly monocular, occurring only in the eye with amblyopia. The vertical oscillation is of equal velocity in both vertical directions, or may sometimes be greater in the downward than upward direction. HBP develops several years after loss of vision. It can be differentiated from dissociated nystagmus in spasmus nutans, congenital nystagmus and internuclear ophthalmoplegia based on the strict unilaterality, vertical direction and low frequency. Previously, only a few reports described the development of oscillopsia due to HBP after cataract surgery, which resolved spontaneously or responded to gabapentin. However, visual impairments due to diplopia or oscillopsia from HBP after cataract surgery have received little attention. We report a man who developed persistent vertical diplopia and oscillopsia due to HBP after a cataract operation, which markedly impaired his vision.
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PMID:Emergence of diplopia and oscillopsia due to Heimann-Bielschowsky phenomenon after cataract surgery. 1881 21

A comprehensive review of the available literature was performed to determine the common ophthalmic disorders in children aged 0 to 16 years with Down syndrome. The UK National Library for Health interface was used to search seven electronic databases, including MEDLINE and EMBASE. Terms related to Down syndrome, ophthalmology, and pediatrics were combined in the search strategy, which yielded 230 articles. Application of exclusion criteria left 23 articles to include in the review. Literature synthesis demonstrated that children with Down syndrome are at risk for several ocular disorders. Refractive error was a common finding, particularly hyperopia. Strabismus was also reported regularly, particularly esodeviation. Other frequent findings included poor visual acuity, nystagmus, and blepharitis, whereas cataract and glaucoma were less common but had potentially serious implications for future vision. Only one study compared routine pediatric examination to that of a pediatric ophthalmologist. The findings of this review confirm the need for an ophthalmic screening program for children with Down syndrome. Additional work should investigate how such a program could be best implemented and ascertain how to involve different professionals in such a service.
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PMID:Ophthalmic abnormalities in children with Down syndrome. 1934 67


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