Alstrom Disease (Cataract and Retinitis Pigmentosa)
General: Retinal lesion associated with deafness; severe visual loss in the first decade. Ocular: Cataract; retinitis pigmentosa; optic atrophy; salt and pepper pigment epithelial abnormalities. Electroretinogram pathognomonic findings include initially normal rod component, which can become undetectable as early as 5 years of age; undetectable cone activity at 18 months.
Clinical: Nerve deafness; diabetes mellitus in childhood; obesity; renal disease; baldness; hyperuricemia; hypogenitalism; acanthosis nigricans; skeletal anomalies; diabetes mellitus; deafness.
Geeraets WJ. Ocular Syndromes, 3rd
ed.
Konigsmark BW, et al. Dominant congenital deafness and progressive optic nerve Atrophy. Arch Ophthalmol 1974; 91:99-l03.
Millay RH, et al. Ophthalmologic and systemic manifestations of Alstrom's disease. Am J Ophthalmol 1986; 102: 482-
Tremblay F, et al. Longitudinal study of the early electroretinographic changes in Alstrom's disease. Am J Ophthalmol 1993; 115:657-665.
SIMPTOME Deoarece vederea oricaruia dintre noi se deterioreaza cu varsta si deoarece instalarea cataractei este de obicei un proces treptat, primul s [...] |
Knobloch Syndrome 6 [...] |
4 a Syndrome (Adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities) [...] |
Copyright © 2010 - 2024
: eSanatos.com - Reproducerea, chiar si partiala, a materialelor de pe acest site este interzisa!
Informatiile medicale au scop informativ si educational. Ele nu pot inlocui consultul medicului si nici diagnosticul stabilit in urma investigatiilor si analizelor medicale la un medic specialist.
Termeni si conditii - Confidentialitatea datelor - Contact
Despre diseases |
Alte sectiuni |
Ai o problema medicala? |