In family WZ403, the proband (II-12) exhibited bilateral vision loss at the age of 30 years. She was diagnosed with LHON by the Ophthalmology Clinic at the Wenzhou Medical College. Her visual acuity was 0.3 and 0.2 in the right and left eyes, respectively. Visual field testing demonstrated large centrocecal scotomata in both her eyes. Fundus examination showed that 10-DAB both her optic disks were abnormal: vascular tortuosity of the central retinal vessels, a circumpapillary telangiectatic microangiopathy, and swelling of the retinal nerve fiber layer. Therefore, she exhibited a typical clinical feature of LHON. By contrast, none of other 15 matrilineal relatives in this pedigree exhibited a visual failure.
Furthermore, there is no evidence that any member of those families had any other known cause to account for visual impairment. Comprehensive family medical histories of these individuals showed no other clinical abnormalities, including diabetes, muscular diseases, hearing impairment, and neurological disorders.
View User's Journal
Osteocytes play a pivotal role in the
 |
