title: Tay-Sach disease with "cherry-red spot"--first reported case in Malaysia.
abstract: We present a rare case of Tay-Sachs disease with retinal 'cherry-red spots' in a 19-month-old Malay child. Molecular genetic studies confirmed the diagnosis. The case highlights that 'cherry-red spot' is a useful clinical clue in Tay-Sachs disease and several other lysosomal storage disorders. It serves as an ideal illustration of the eye as a window to inborn error of metabolism.
authors.affiliation: Hospital Kuala Lumpur, Ophthalmology Department, Jalan Pahang, Kuala Lumpur, Wilayah Persekutuan, 50586, Malaysia. lupins_17@hotmail.com
authors.forename: L Y
authors.initials: LY
authors.lastname: Chan
authors.forename: S
authors.initials: S
authors.lastname: Balasubramaniam
authors.forename: R
authors.initials: R
authors.lastname: Sunder
authors.forename: R
authors.initials: R
authors.lastname: Jamalia
authors.forename: T V N
authors.initials: TV
authors.lastname: Karunakar
authors.forename: J
authors.initials: J
authors.lastname: Alagaratnam
mesh_terms: D054818:Hexosaminidase A / Q000235:genetics; D006801:Humans; D007223:Infant; D008296:Malaysia; D008297:Male; D012164:Retinal Diseases / Q000235:genetics / Q000473:pathology*; D013661:Tay-Sachs Disease / Q000235:genetics / Q000473:pathology*
chemical_list: D054818:Hexosaminidase A