Retinal dystrophy in 2 brothers with α-mannosidosis

Archives of Ophthalmology

Volumn 129, Issue 6, 2011, Pages 799-802

  Courtney, Robert Jackson ^a   Pennesi, Mark E ^a  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOFLUORESCENCE IMAGING; CASE REPORT; COGNITIVE DEFECT; DISEASE ASSOCIATION; ENZYME ASSAY; EYE EXAMINATION; HEARING LOSS; HUMAN; INTRAOCULAR PRESSURE; MALE; MANNOSIDOSIS; MUSCULAR DYSTROPHY; PHYSICAL EXAMINATION; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETINA DYSTROPHY; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; VISUAL ACUITY;

ALPHA-MANNOSIDASE; ALPHA-MANNOSIDOSIS; DIAGNOSIS, DIFFERENTIAL; DISEASE PROGRESSION; FLUORESCEIN ANGIOGRAPHY; FOLLOW-UP STUDIES; FUNDUS OCULI; HUMANS; MALE; MIDDLE AGED; RETINAL DYSTROPHIES; RETINAL PIGMENT EPITHELIUM; SIBLINGS; TOMOGRAPHY, OPTICAL COHERENCE;

EID: 79958739624     PISSN: 00039950     EISSN: 15383601     Source Type: Journal    
DOI: 10.1001/archophthalmol.2011.134     Document Type: Article

References (5)

1. Malm D, Nilssen O. Alpha-mannosidosis. Orphanet J Rare Dis. 2008;3:21.
2. Oeckerman PA. A generalized storage disorder resembling Hurler's syndrome. Lancet. 1967;290(7509):239-241. doi:10.1016/S0140-6736(67)92303-3.
3. Arbisser AI, Murphree AL, Garcia CA, Howell RR. Ocular findings in mannosidosis. Am J Ophthalmol. 1976;82(3):465-471.
4. Springer C, Gutschalk A, Meinck HM, Rohrschneider K. Late-onset retinal dystrophy in α-mannosidosis. Graefes Arch Clin Exp Ophthalmol. 2005;243(12):1277-1279.
5. Jolly RD, Shimada A, Dalefield RR, Slack PM. Mannosidosis: ocular lesions in the bovinemodel. Curr Eye Res. 1987;6(9):1073-1078.