RESUMEN
Best vitelliform macular dystrophy (VMD) is an autosomal dominant macular dystrophy caused by heterozygous mutations in the bestrophin1 gene. Patients with this condition typically have an abnormal electrooculogram. We report a case of a 16-year-old male who presented with gradual progressive vision loss in the right eye. Ophthalmic assessment included funduscopy, optical coherence tomography (OCT), fluorescein angiography, electro-oculography, electroretinography, and genetic testing. Visual acuity was 20/500 and 20/20 in the right and left eyes, respectively. Ophthalmoscopy revealed round yellow lesions in both foveae similar to what is typically seen in Best disease. A subretinal hemorrhage surrounding the right foveal lesion was also noted. OCT demonstrated an elevated neurosensory retina with a subretinal lesion in the right macula. Fluorescein angiography of the right eye confirmed the presence of choroidal neovascularization. Genetic analysis of VMD2/BEST1 sequences confirmed the diagnosis of Best disease. However, contrary to what was expected, the patient's electro-oculography was normal. The findings of this case support a small number of previous reports demonstrating cases of Best disease with normal electro-oculography. While an abnormal electro-oculography along with the typical features of Best disease confirms the diagnosis, a normal result may not exclude the diagnosis. Genetic testing is probably the most important test for establishing the diagnosis of Best disease.
RESUMEN
OBJECTIVE: The objective of this study is to describe the epidemiology, risk factors, etiology, and outcome of microbial keratitis in a tertiary care center in Muscat, Oman. METHODS: The electronic records of all patients diagnosed with keratitis or corneal ulcer between January 2013 and January 2016 in Al-Nahdha Hospital were retrospectively reviewed. Patients who presented with a corneal ulcer requiring admission and who underwent culture and sensitivity studies were included in the study. Patients with viral keratitis or sterile corneal ulcers were excluded from the study. RESULTS: A total of 606 electronic medical records of all presumed microbial keratitis were reviewed. Out of these, 304 met the eligibility criteria. The mean age of patients was 52.2 years (standard deviation [SD]: ±23.2 years; range: 0.1-89 years). A total of 198 (65%) microbial cultures yielded positive results. Of these, 182 (92%) were bacterial, 13 (7%) were fungal, and 3 (1%) cases were due to a combined (bacterial and fungal) etiology. Gram-positive bacteria accounted for 102 (55.1%), of which the majority was due to Streptococcus pneumoniae. Gram-negative bacteria accounted for 77 (41.6%) cases; half were caused by Pseudomonas aeruginosa. Keratitis in patients aged 18 years and younger was more likely to be associated with trauma (48.3%, P < 0.001) in young adults with contact lens wear (64%, P < 0.001) and in adults over 40 years with blepharitis (55.6%), sequelae of previous trachoma infection (26.3%), and eyelid abnormalities (18.4%). Following recovery, corneal scarring was seen in 63.2% of patients. CONCLUSION: Microbial keratitis affects patients of all age groups but is more common in older adults. The vast majority of culture-proven cases are due to bacterial infections. Children and teenagers are more likely to develop keratitis following eye trauma whereas young adults mostly develop the condition in association with contact lens wear. Ocular surface disease is the most important risk factor in older adults. The majority of patients end up with corneal scarring.