Sandhoff’s and Tay-Sachs disease 
on the base of our own cases

Witold Kokot; Krystyna Raczyńska; Jarosława Krajka-Lauer; Barbara Iwaszkiewicz-Bilikiewicz; Jolanta Wierzba

eISSN: 2719-3209
ISSN: 0023-2157

Klinika Oczna / Acta Ophthalmologica Polonica Supplement

Current supplement Archive Acta Ophthalmologica Polonica

3/2004
vol. 106

Send email

Copy url:

abstract:

Case report

Sandhoff’s and Tay-Sachs disease on the base of our own cases

Witold Kokot

¹

,

Krystyna Raczyńska

¹

,

Jarosława Krajka-Lauer

¹

,

Barbara Iwaszkiewicz-Bilikiewicz

¹

,

Jolanta Wierzba

²

Z Katedry i Kliniki Chorób Oczu Akademii Medycznej w Gdańsku
Z Kliniki Pediatrii, Hematologii, Onkologii i Endokrynologii Akademii Medycznej w Gdańsku

KLINIKA OCZNA 2004, Supl. 3: S534–S536

Online publish date: 2022/12/29

View full text Get citation

The authors described two infant with Sandhoff's and Tay-Sachs disease. Tay-Sachs disease is well-known inherited disease leading to an accumulation of gangliosides in the brain and retina. Sandhoff's disease (GM2 gangliosidosis type 0) was diagnosed in an infant, in whom a progressive neurological disorder and cherry-red foveal spots were developed. In addition, to the general clinical examination, indirect ophthalnoscopy, blood white cells enzymatic examination are used to make definitive diagnosis. In this cases, the early eye fundus examination allowed us to make the proper diagnosis.

keywords:

Sandhoff’s and Tay-Sachs disease on the base of our own cases

Witold Kokot 1 , Krystyna Raczyńska 1 , Jarosława Krajka-Lauer 1 , Barbara Iwaszkiewicz-Bilikiewicz 1 , Jolanta Wierzba 2

Sandhoff's and Tay-Sachs disease

Witold Kokot

¹

,

Krystyna Raczyńska

¹

,

Jarosława Krajka-Lauer

¹

,

Barbara Iwaszkiewicz-Bilikiewicz

¹

,

Jolanta Wierzba

²