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We describe a family with an as yet undescribed form of X-linked progressive cone dystrophy in a five-generation pedigree, from which we report here the results of 17 male patients and 31 obligate and 13 possible female carriers. The affected males showed the characteristic picture of cone dystrophy. Foveal cone photopigment density was impaired (judged… (More)
We investigated 111 members of a five generation family with X linked cone dystrophy. The patients showed the characteristic picture of cone dystrophy. Routine ophthalmological examination of the carrier women showed no abnormalities. However, with detailed colour vision testing we were able to detect 87% of all obligate carriers.
PURPOSE To report Nerve Fiber Analyzer (NFA/GDx; Laser Diagnostic Technologies, San Diego, California) measurements in a patient during the early phase of an anterior ischemic optic neuropathy. METHODS Case report. A 58-year old man with acute anterior ischemic optic neuropathy had repeated NFA/GDx scans of the nerve fiber layer adjacent to the optic… (More)
Neuro-ophthalmology is a difficult and challenging field for both ophthalmologists and neurologists. Unfortunately, signs and symptoms of these patients can be very subtle and easily overlooked. Although neuro-ophthalmologic cases are rare in the practice of a general ophthalmologist, missing the diagnosis can have a severe impact on the patient's health.… (More)