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Alstrom disease (cataract and retinitis pigmentosa)


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. Philadelphia: Lea & Febiger, 1976.

Harley RD, ed. Pediatric Ophthalmology, 4th ed. Philadelphia: WB Saunders, 1998.

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.





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