TY - JOUR
T1 - Macular Dystrophy of the Cornea
T2 - A Systemic Disorder of Keratan Sulfate Metabolism
AU - Edward, Deepak P.
AU - Thonar, Eugene J.M.A.
AU - Srinivasan, M.
AU - Yue, Beatrice J.Y.T.
AU - Tso, Mark O.M.
N1 - Funding Information:
Supported in part by grants EY 03890 and EY 05628, training grant EY 07038, and core grant EY 01792 from the National Eye Institute, by grant AG 04736 from the National Institute on Aging, and by grant I-P50-AR 39239 from the National Institutes of Arthritis and Musculoskeletal Skin Diseases, National Institutes of Health, Bethesda, Maryland, and Lions of Illinois Eye Research Institute.
PY - 1990
Y1 - 1990
N2 - The serum of most patients with type 1 macular corneal dystrophy (MCD), the most prevalent subtype, lacks detectable antigenic keratan sulfate (KS), and it has been postulated that such individuals may lack antigenic KS in their cartilage as well. To test this hypothesis, we studied the cornea, serum, and nasal cartilage from an MCD patient using light and electron microscopy, immunohistochemistry, and a quantitative enzyme-linked immunosorbent assay (ELISA) which uses a monoclonal antibody against a sulfated epitope on the KS chain to measure KS content. Histologically, corneal deposits seen were characteristic of MCD. No abnormal deposits were noted in the cartilage. The lack of immunoreactivity in corneal sections with antibodies against sulfated epitope on KS and the absence of this epitope in serum showed that the patient had type 1 MCD. The cartilage specimen showed no immunoreactivity in the chondrocytes or extracellular matrix. Quantitative analysis by ELISA demonstrated that the antigenic KS content of the cornea and cartilage was at least 800 times lower than that in normal controls. This provided direct evidence that the abnormality in the sulfation of keratan in type 1 MCD involves the cornea and cartilage.
AB - The serum of most patients with type 1 macular corneal dystrophy (MCD), the most prevalent subtype, lacks detectable antigenic keratan sulfate (KS), and it has been postulated that such individuals may lack antigenic KS in their cartilage as well. To test this hypothesis, we studied the cornea, serum, and nasal cartilage from an MCD patient using light and electron microscopy, immunohistochemistry, and a quantitative enzyme-linked immunosorbent assay (ELISA) which uses a monoclonal antibody against a sulfated epitope on the KS chain to measure KS content. Histologically, corneal deposits seen were characteristic of MCD. No abnormal deposits were noted in the cartilage. The lack of immunoreactivity in corneal sections with antibodies against sulfated epitope on KS and the absence of this epitope in serum showed that the patient had type 1 MCD. The cartilage specimen showed no immunoreactivity in the chondrocytes or extracellular matrix. Quantitative analysis by ELISA demonstrated that the antigenic KS content of the cornea and cartilage was at least 800 times lower than that in normal controls. This provided direct evidence that the abnormality in the sulfation of keratan in type 1 MCD involves the cornea and cartilage.
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U2 - 10.1016/S0161-6420(90)32436-3
DO - 10.1016/S0161-6420(90)32436-3
M3 - Article
C2 - 2234853
AN - SCOPUS:0025108795
SN - 0161-6420
VL - 97
SP - 1194
EP - 1200
JO - Ophthalmology
JF - Ophthalmology
IS - 9
ER -