Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A total of 679 primary school children drawn from developed southern parts and underdeveloped eastern parts of Delhi were examined for ocular morbidity. Their age range was 5-15 years and both sexes had almost equal representation. The prevalence of eye diseases was relatively high. Over 40 percent of all the children studied had one or more ocular problems. Trachoma (18%) was the most common ocular morbidity followed by vitamin A deficiency (10.6%), visual acuity < 6/9 (7.4%) and apparent/latent squint (7.4%). In most of these eye disorders, the majority of the children came from the underdeveloped eastern parts of Delhi. Ocular morbidity seems to be unevenly distributed in rural Delhi with a significantly worse picture in the underdeveloped eastern parts, across the river 'Yamuna'. Though blinding trachoma may cease to be a major problem in India, the country continues to have endemic pockets of its non-blinding form. One puzzling observation was that children with protein-energy malnutrition (PEM) did not show any specific vulnerability to ocular diseases. In fact, those with normal weight-height index were having a higher share of eye diseases. Though this issue needs to be explored further in the light of biological plausibility, it appears that children who do not have PEM are also exposed to ocular diseases at least with comparable risk.
Asia Pac J Public Health 1999
PMID:Pattern and distribution of ocular morbidity in primary school children of rural Delhi. 1082 25

Duane syndrome (MIM 126800) is an autosomal dominant disorder characterised by primary strabismus and other ocular anomalies, associated with variable deficiency of binocular sight. We have recently identified a < 3 cM smallest region of deletion overlap (SRO) by comparing interstitial deletions at band 8q13 in two patients (one described by Vincent et al, 1994, and the other by Calabrese et al, 1998). Here we report on another patient with Duane syndrome carrying a reciprocal translation t(6;8)(q26;q13). FISH and PCR analyses using a YAC contig spanning the SRO narrowed the Duane region to a < 1 cM interval between markers SHGC37325 and W14901. In addition, the identification and mapping of two PAC clones flanking the translocation breakpoint, allowed us to further narrow the critical region to about 40 kb. As part of these mapping studies, we have also refined the map position of AMYB, a putative candidate gene, to 8q13, centromeric to Duane locus. AMYB is expressed in brain cortex and genital crests and has been previously mapped to 8q22.
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PMID:Narrowing the Duane syndrome critical region at chromosome 8q13 down to 40 kb. 1085 90

Refractive surgery in children is controversial. The main indications are bilateral high ametropia and anisometropia where conventional treatment with spectacles or contact lens is not tolerated. Other reported indications include accommodative strabismus and previous cataract surgery. The most commonly performed procedures currently are surface ablation procedures using excimer laser. The main disadvantage of surface ablation procedures is refractive regression, which is more pronounced in higher degrees of ametropia. More recently, there is a growing number of studies evaluating the safety and effectiveness of phakic intraocular lenses (IOLs) as an alternative surgical management for children who are noncompliant with conventional treatment and unsuitable for laser ablative procedures. The advantages of phakic IOLs are reversibility, predictability, and lack of regression. The principal concern with phakic IOL insertion is long-term endothelial cell loss. Clear lens extraction has been performed in patients with shallow anterior chambers beyond the range of corneal laser refractive procedures; however, major drawbacks include loss of accommodation and significant risk of retinal detachment. In summary, results to date show that refractive surgery can be successfully performed in children and meets an important need in a select subgroup of patients who are recalcitrant to traditional therapy. Issues that remain controversial are the age at which to perform surgery, choice of procedure, need for anesthesia, instability of refractive errors in children, and long-term safety considerations.
Asia Pac J Ophthalmol (Phila)
PMID:Refractive Surgery in Children. 2610 79

Retinoblastoma can present in 1 or both eyes and is the most common intraocular malignancy in childhood. It is typically initiated by biallelic mutation of the RB1 tumor suppressor gene, leading to malignant transformation of primitive retinal cells. The most common presentation is leukocoria, followed by strabismus. Heritable retinoblastoma accounts for 45% of all cases, with 80% being bilateral. Treatment and prognosis of retinoblastoma is dictated by the disease stage at initial presentation. The 8th Edition American Joint Committee on Cancer (AJCC) TNMH (tumor, node, metastasis, heritable trait) staging system defines evidence-based clinical and pathological staging for overall prognosis for eye(s) and child. Multiple treatment options are available in 2018 for retinoblastoma management with a multidisciplinary team, including pediatric ocular oncology, medical oncology, radiation oncology, genetics, nursing, and social work. Survival exceeds 95% when disease is diagnosed early and treated in centers specializing in retinoblastoma. However, survival rates are less than 50% with extraocular tumor dissemination. We summarize the epidemiology, genetics, prenatal screening, diagnosis, classification, investigations, and current therapeutic options in the management of retinoblastoma.
Asia Pac J Ophthalmol (Phila)
PMID:Retinoblastoma for Pediatric Ophthalmologists. 2973 52