Analysis of the vitreous membrane in a case of type 1 Stickler syndrome.
BACKGROUND
Stickler syndrome causes ocular abnormalities, including retinal detachment and vitreoretinal degeneration, and systemic anomalies such as arthritis and deafness. Although retinal detachment is characteristic of this syndrome, the pathogenesis is unknown.


METHODS
A 10-year-old boy reported decreased vision and presented 5 days after visual loss.


RESULTS
Ophthalmoscopy showed a retinal detachment with a giant tear in the right eye, and a nonpigmented epithelial detachment with pars plicata breaks in the left eye. Bilateral findings included an empty vitreous and a vitreous membrane at the equator. The systemic abnormalities included short stature and joint hypermobility. The diagnosis was type 1 Stickler syndrome, and the eyes were treated surgically. Immunohistochemistry showed that the vitreous membrane resected intraoperatively was comprised primarily of Müller cells. Electron microscopy showed dense collagen fibers around the cells in the membrane that were identical to the vitreous collagen inserted into the basement membrane of the cells, which was similar to the ultrastructure of the vitreous base.


CONCLUSIONS
Müller cells might be primary components of the vitreous membrane in type 1 Stickler syndrome. The vitreoretinal interface, which resembled the ectopic vitreous base, in the vitreous membrane may be related to the pathogenesis of the retinal detachment.
Yokoi
Tadashi
T
Department of Ophthalmology, National Center for Child Health and Development, Syowa University East Hospital, Tokyo, Japan.
Koide
Ryouhei
R
Matsuoka
Kentaro
K
Nakagawa
Atsuko
A
Azuma
Noriyuki
N
D000015:Abnormalities, Multiple; D002648:Child; D024043:Collagen Type II / Q000235:genetics; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D024022:Fibrillar Collagens / Q000648:ultrastructure; D005904:Glial Fibrillary Acidic Protein / Q000378:metabolism; D006801:Humans; D008297:Male; D008566:Membranes / Q000378:metabolism / Q000473:pathology; D016900:Neurofilament Proteins / Q000378:metabolism; D009457:Neuroglia / Q000648:ultrastructure; D012163:Retinal Detachment / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D012167:Retinal Perforations / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D013577:Syndrome; D014746:Vimentin / Q000378:metabolism; D014822:Vitreous Body / Q000002:abnormalities* / Q000601:surgery / Q000648:ultrastructure*
C499177:COL2A1 protein, human; D024043:Collagen Type II; D024022:Fibrillar Collagens; D005904:Glial Fibrillary Acidic Protein; D016900:Neurofilament Proteins; D014746:Vimentin