[Alport's syndrome--case report].
The history and clinical findings of 30-year man with Alport's syndrome are presented. The main features of Alport's syndrome are hereditary chronic nephritis leading to renal failure resulting in death and sensory-neural deafness. Ocular features include anterior lenticonus, macular and peripheral flecks resembling fundus albipunctatus. The etiology of this syndrome is unknown. It has been suggested that there may be a metabolic defect in the biosynthesis of collagen with changes in the glomerular basement membrane, cochlea and capsule of the lens. The retinal flecks may also be related to the different underlying glial cells, Mullers cells producing thick basement membrane. It is concluded that diagnosis of fundus albipunctatus should not be made in the absence of full renal investigation and audiometry.
Słowik
Mirosław
M
Z Katedry i Kliniki Okulistyki Akademii Medycznej we Wrodawiu.
Popiela
Grazyna
G
Kazimierczak
Krzysztof
K
Szelepin
Lukasz
L
Szaliński
Marek
M
D000328:Adult; D005654:Fundus Oculi; D006801:Humans; D008297:Male; D009394:Nephritis, Hereditary / Q000175:diagnosis; D009887:Ophthalmoscopy; D012160:Retina / Q000473:pathology*