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Kearns-Sayre syndrome is a rare mitochondrial disease which usually occurs sporadically with the presence of ptosis and the clinical triad of chronic progressive external ophthalmoplegia, atypical retinitis pigmentosa and cardiac conduction disorders. We show on the example of a young patient with unexplained atypical acquired ptosis and eye movement disorders, the correct interpretation of the diagnostic findings. Of importance is the early detection of potentially life-threatening complications which can lead to sudden cardiac death.
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PMID:[Kearns-Sayre syndrome : a mitochondrial disease (OMIM #530000)]. 2116 24

Although considerable recent work on hereditary eye diseases in Tasmanian families has been published, much of this depended on a century of meticulous pedigree collection by earlier clinical researchers. This article reviews some of the historical papers and the importance they have played in gene discovery and understanding of ophthalmic genetics. Tasmanian families have contributed to the identification of genes for X-linked megalocornea, Leber's hereditary optic neuropathy, retinitis pigmentosa, congenital cataract, ptosis, keratoconus, glaucoma and myopia. The true value of the Tasmanian pedigrees will be realized with the translation of genetic discoveries into early diagnosis and treatment for these eye diseases.
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PMID:Genetic eye research in Tasmania: a historical overview. 2204 74

Pregnancy is often associated with ocular changes which may be more commonly transient but occasionally, permanent. The ocular effects of pregnancy may be physiological or pathological or may be modifications of pre-existing conditions. Physiological changes include increased pigmentation around the cheeks, ptosis, changes in cornea and refractive status,decreased intraocular pressure. These usually resolve post partum. Pre-existing diseases such as Graves disease, Retinitis pigmentosa, optic neuritis, should be monitored due to their remission or relapses in pregnancy. There may be worsening of Diabetic retinopathy, and Central serous chorio-retinopathy with increased risk of Retinal detachment. Conditions like Glaucoma and Non infectious uveal inflammatory disorders may even improve transiently. Pre-eclampsia and eclampsia could result in hypertensive retinopathy, exudative retinal detachment and cortical blindness. Neuro-ophthalmological disorders such as venous sinus thrombosis, benign intracranial hypertension, pituitary adenoma, meningioma and optic neuritis should be kept in mind as differential diagnosis in pregnant women presenting with visual acuity loss, visual field loss, persistent headaches or oculomotor palsies. Use of ophthalmic drugs can affect fetal health during pregnancy.
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PMID:Ocular changes in pregnancy. 2234 13

A cross-sectional survey of the prevalence of eye injuries among primary school children in two noncontiguous local government areas of Enugu State of Nigeria was undertaken. One of the local government areas was urban, while the other one was rural. Children who were <15 years in two randomly selected primary schools in the urban area and three randomly selected schools in the rural area were interviewed and examined with Snellen chart, pen torch, head loupe, and direct ophthalmoscope. The findings were recorded using a semi-structured questionnaire and the World Health Organization Programme for Prevention of Blindness (WHO/PBL) eye examination form. Training on visual acuity measurement was done for each of the class teachers. A total of 1,236 children <15 years of age were studied and analyzed. Slightly more females, 652 (52.8%), than males, 584 (47.2%), constituted the sample population giving a female/male ratio of 1.1:1. A total of 98 (7.93%) children had evidence of injury to the eye or its adnexa. Eyelid scar was the commonest (5.34%) followed by eyebrow scar (2.10%). Canthal scar was the next (0.32%). Two girls had monocular blindness from eye trauma (0.16%). One had leucoma, while the other had a dislocated lens. All the monocular blind children of this study were from the urban area. The home was the commonest environment for an eye injury (69.39%) followed by the school (20.41%). The farm was next in frequency (7.14%), especially among boys in the rural area. The church and the road/street constituted the remainder. Regarding persons causing the injury, the child's playmate was the commonest (55.10%) followed by self (27.55%). Parents and guardians were the next (9.18%). These were injuries associated with corporal punishment. Corporal punishment-related eye injury, according to this study, appears to be common in the rural area and affects boys predominantly. Other human intermediary agents that cause an eye injury include passersby (2.04%), RTA (2.04%), siblings (2.04%), and others (1.02%). The primary agents that caused an eye injury were sticks/wood, 29 (29.60%); stone, 21 (21.43%); pieces of metal, 19 (19.39%); fall, 10 (10.20%); fight/fist blow, 9 (9.918%); plastic, 2 (2.04%); fingernails, 2 (2.04%); farm tools/fruits, 2 (2.04%); and RTA, glass, and headbutt, each 1.02%. Farm implements/fruits as well as fingernails appear to be fairly common primary agents that cause an eye injury in the rural Enugu, Nigeria. In terms of prevalence, there was no significant difference between the urban and rural areas. The findings from this study showed a high prevalence of eye injury among primary school children. In terms of treatment, 58.16% of the children with an eye injury had no form of treatment for it. The children from this study with monocular blindness did not receive adequate medical treatment. Treatment of an eye injury, according to this study, was sought from chemists (19.39%), at hospital/health centers (16.33%), at home (3.06%), and from traditional healers (3.06%). The persons who treated an eye injury, as observed from this study, were doctors (14.29%), nurses (4.08%), chemists (17.35%), and traditional healers and fathers (3.06% each). The frequency of noninjury-related diagnosis made in this study was refractive error, 4.85%; allergic conjunctivitis, 1.94%; oculocutaneous albinism, 0.24%; prepapillary vascular loops, 0.40%; and then ptosis, exotropia, stye, corneal opacity, and retinitis pigmentosa, 0.08% each. The annual incidence of an eye injury according to this study was 3.48%. The majority of the causes of an eye injury, as per this study, were preventable. Appropriate promotion of preventive eye care among children may go a long way in reducing the burden of blindness from eye injuries.
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PMID:Eye Injuries Among Primary School Children in Enugu, Nigeria: Rural vs Urban. 2612 86


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