China
Africa
Explore chapters and articles related to this topic
Paper 3
Published in Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw, The Final FRCR, 2020
Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw
In homocysteinuria there is frequently generalised osteoporosis and widespread skeletal abnormalities, rather than the quite focal abnormality described in this case. Lens dislocation is a typical feature. There may be sternal abnormalities and the epiphyses and metaphyses are frequently affected. Imaging of the spine may reveal biconcave vertebrae and scoliosis.
Marfan's Syndrome
Published in K. Gupta, P. Carmichael, A. Zumla, 100 Short Cases for the MRCP, 2020
K. Gupta, P. Carmichael, A. Zumla
Marfan's syndrome is an inherited connective tissue disorder of unknown aetiology. It is transmitted as an autosomal dominant trait. The clinical features include skeletal (tall stature, pectus deformities, arachnoidactyly, scoliosis), cardiovascular (aortic and mitral valve regurgitation, aortic aneurysm, and aortic dissection) and ocular abnormalities (lens dislocation and myopia). The disorder affects approximately 1 in 15000 individuals with men and women being affected equally. There is a wide variability in clinical severity with members of the same family having different extents of involvement. Lens dislocation may result in cataract formation and glaucoma. Mitral valve prolapse is commonly present and mitral regurgitation develops in over 70% of cases.
Ophthalmology
Published in Fazal-I-Akbar Danish, Essential Lists of Differential Diagnoses for MRCP with diagnostic hints, 2017
Lens dislocation:1 Trauma.2 Uveal tumour.3 Refsum’s disease.34 Homocystinuria (downwards).45 Marfan’s syndrome (upwards).56 Ehlers–Danlos’ syndrome.67 Weill–Marchesani’s syndrome.7
Malignant teratoid intraocular ciliary body medulloepithelioma in a 5-year-old male with corresponding somatic copy number alteration profile of aqueous humor cell-free DNA
Published in Ophthalmic Genetics, 2022
Sarah Pike, Rahul Iyengar, Chen-Ching Peng, Patricia Chevez-Barrios, Brianne Brown, Rachana Shah, Jaclyn Biegel, Venkata Yellapantula, Aaron Nagiel, Bibiana Jin Reiser, Liya Xu, Jesse L. Berry
Examination under anesthesia (EUA) was performed for further characterization. Corneal diameters were 11.5 × 11.5 mm OD and 12.5 × 13 mm with edema OS. Using indirect ophthalmoscopy, exam OD showed peripheral retinal tufts without evidence of tumor (Figure 1(a)). A vascular, infiltrative lesion was seen nasally OS involving the ciliary body and eroding the iris root (Figure 1(b)). Cataract and lens dislocation prevented view of posterior structures. An MRI of the brain and orbits was significant in the left globe for lens enlargement consistent with cataract, retinal detachment, and nodular enhancement on the retinal undersurface and adjacent to the lens, suggesting a hypercellular process (Figure 2). Ocular B-scan ultrasound OS showed complete funnel retinal detachment (Figure 3(a)) and UBM confirmed a nasal ciliary body lesion measuring 12.71x4.76 mm with calcifications (Figure 3(b)).
Management of pediatric orbital wall fractures
Published in Expert Review of Ophthalmology, 2019
The other unique presentation is the white-eyed blowout fracture. The term was first coined by Jordan et al. [4] in 1998 and describes patients who have orbital floor fractures, a history of periocular trauma, marked extraocular motility restriction but no enophthalmos, minimal periorbital soft-tissue edema, no conjunctival hemorrhage, and negative or equivocal imaging findings. Pediatric patients who presented like this and who were operated on within 24–48 h had better long-term postoperative motility than did those who underwent the standard two-week waiting period [4]. Although there is a child’s limited cooperation, a thorough examination should be performed at the presentation if possible. In comparison with adults, children usually present with less periorbital edema and are able to undergo a full ophthalmologic examination [4,37]. Visual acuity, extraocular motility, forced ductions, and pupillary functions should be assessed for possible entrapment, muscle or nerve palsy, and optic neuropathy. A complete ophthalmic examination should be done if possible to look for traumatic corneal injury, hyphema, lens dislocation, lacrimal injuries, vitreous hemorrhage, retinal detachment, commotio retinae, and ruptured globe [44].
Risk Factors Associated with Failure of Direct Cyclopexy in the Treatment of Small to Moderate Tramatic Cyclodialysis Clefts
Published in Current Eye Research, 2020
Ruijuan Zhao, Bingsheng Lou, Yao Yang, Fang Duan, Lixia Lin, Miner Yuan, Zhenfang Wang, Liwen He, Chongde Long, Xiaofeng Lin
The multivariate logistic regression final model showed that, after adjusting for other potential confounders (Table 3), an angle-closure degree exceeding 5 clock hour (OR, 10.39; 95% CI, 1.75–61.72; p = .010) was positively associated with surgery failure. Furthermore, we found that lens dislocation (OR, 1.16; 95% CI, 0.27–5.05; p = .843) was not correlated with surgery failure, after adjusting for other potential confounding factors. Injury type has a marginal trend toward significance (p = .058). However, it cannot be concluded that injury type influences the successful correction of hypotony by direct cyclopexy. This conclusion may need to be further confirmed by expanding the sample size.