Late-onset retinal dystrophy in α-mannosidosis

Graefe's Archive for Clinical and Experimental Ophthalmology

Volumn 243, Issue 12, 2005, Pages 1277-1279

  Springer, Christina ^a   Gutschalk, Alexander ^a   Meinck, Hans Michael ^a   Rohrschneider, Klaus ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA MANNOSIDASE;

ADULT; ARTICLE; BONE DISEASE; CASE REPORT; CATARACT; CLINICAL FEATURE; COARSE FACE; FOLLOW UP; HEARING IMPAIRMENT; HEPATOSPLENOMEGALY; HUMAN; LYSOSOME STORAGE DISEASE; MALE; MANNOSIDOSIS; MENTAL DEFICIENCY; ONSET AGE; PRIORITY JOURNAL; RARE DISEASE; RETINA DYSTROPHY; VISUAL SYSTEM EXAMINATION;

ADULT; ALPHA-MANNOSIDOSIS; DISEASE PROGRESSION; ELECTRORETINOGRAPHY; HUMANS; MALE; RETINAL DISEASES; TIME FACTORS; VISION, LOW; VISUAL ACUITY;

EID: 30344478835     PISSN: 0721832X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00417-004-1084-7     Document Type: Article

References (5)

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2. Bennet JK, Dembure PP, Elsas LJ (1995) Clinical and biochemical analysis of two families with type I and type II mannosidosis. Am J Med Genet 55:21-26 10.1002/ajmg.1320550108
3. Jolly RD, Shimada A, Dalefield RR, Slack PM (1987) Mannosidosis: Ocular lesions in the bovine model. Curr Eye Res 9:1073-1078
4. Oeckerman PA (1967) A generalized storage disorder resembling Hurler's syndrome. Lancet 2:239-241 10.1016/S0140-6736(67)92303-3
5. Wong LTK, Vallance H, Savage A, Davidson AGF, Applegarth D (1993) Oral zinc therapy in the treatment of alpha-mannosidosis. Am J Med Genet 46:410-414 8357013