PubMed · 15429941
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C H O M von WINNING. 1950-05-20. [Pseudoglioma].. https://pubmed.ncbi.nlm.nih.gov/15429941/
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A newborn infant with end-stage renal disease (ESRD) due to nephronophthisis (NPHP) developed episodes of tachypnea, alternating with apnea, and abnormal eye movements. Contrast-enhanced magnetic resonance imaging (MRI) of the midbrain demonstrated the characteristic appearance of molar tooth sign on axial images, consistent with the diagnosis of Joubert syndrome (JBTS). The DNA sequence analysis of the polymerase chain reaction (PCR) detected no mutations in the NPHP2 (INVS) gene in this child, suggesting that new mutant genes might be responsible for the early onset of ESRD in infantile NPHP with features of JBTS.
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OBJECTIVES: To estimate the prevalence of avoidable blindness in > or =50-year-olds in Nakuru district, Kenya, and to evaluate the Rapid Assessment for Avoidable Blindness (RAAB), a new methodology to measure the magnitude and causes of blindness. DESIGN: Cross-sectional population-based survey. PARTICIPANTS: Seventy-six clusters of 50 people 50 years or older were selected by probability proportionate to size sampling of clusters. Households within clusters were selected through compact segment sampling. Three thousand seven hundred eighty-four eligible subjects were selected, of whom 3503 (92.6%) were examined. METHODS: Participants underwent a comprehensive ophthalmic examination in their homes by an ophthalmologist, including measurement of visual acuity (VA) with a tumbling-E chart and the diagnosis of the principal cause of visual impairment. Those who had undergone cataract surgery were questioned about the details of the operation and their satisfaction with surgery. Those who were visually impaired from cataract were asked why they had not gone for surgery. MAIN OUTCOME MEASURES: Visual acuity and principal cause of VA<6/18. RESULTS: The prevalence of bilateral blindness (presenting VA < 3/60) was 2.0% (95% confidence interval [CI], 1.5%-2.4%), and prevalence of bilateral visual impairment (VA of <6/18-> or =6/60) was 5.8% (95% CI, 4.8%-6.8%) in the sample. Definite avoidable causes of blindness (i.e., cataract, refractive error, trachoma, and corneal scarring) were responsible for 69.6% of bilateral blindness and 74.9% of bilateral visual impairment. Cataract was the major cause of blindness (42.0%) and visual impairment (36.0%). The cataract surgical coverage was high, with 78% of those with bilateral cataract who needed surgery having had surgery at VA<3/60. The quality of surgery was of concern because 22% of the 222 eyes that had undergone cataract surgery had VA<6/60 with best correction. The main barriers to surgery were lack of awareness and cost. The RAAB methodology was easy to use, and each team could visit one cluster per day. CONCLUSIONS: The prevalence of blindness in > or =50-year-olds in Nakuru district was low, in part due to the high cataract surgical coverage. The RAAB is easy to use and inexpensive and provides information about the magnitude and causes of avoidable blindness that can be used for planning and monitoring eye care services.