[Vitreoretinal changes in siblings of two patients with Stickler syndrome. Study of two families].
In 1965 Stickler described a pedigree combining ocular, facial, palatal and skeletal changes. The ocular findings comprise vitreoretinal changes, tears, retinal detachment, myopia and subcapsular cataract. We investigated eight siblings in two families with Stickler syndrome, two of them with a retinal detachment. In two members we observed subcapsular cataract, in four members an optically empty vitreous containing sparse transvitreal strands and sheets of condensed vitreous behind the lens; in the eyes of four emmetropic members with normal visual function large oral bays and large dental processes were found which extended much more posterior to the equator with localized depigmentation, erosions and small tears in the affected area. Similar changes could be observed in the second eye of one patient with a retinal detachment due to a giant tear. The changes of the peripheral retinal pigment epithelium in addition to the affected vitreoretinal base and vitreoretinal adhesions are responsible for the development of erosions, small tears, or even giant tears. Minimal changes as observed in the second eye of our patients with retinal detachment, or in the fundus of other family members, seem to be precursors of retinal detachment. Changes in the second eye of retinal detachment or in the retina of "unaffected" family members without retinal detachment or other associated symptoms of Stickler syndrome should be evaluated regularly and, if necessary, treated by laser, cryotherapy or even an encircling procedure.
Langmann
A
A
Universitäts-Augenklinik Graz.
Langmann
G
G
Kainer
U
U
Faulborn
J
J
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005124:Eye Abnormalities / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D012163:Retinal Detachment / Q000235:genetics; D012167:Retinal Perforations / Q000235:genetics; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome
Vitreoretinale Veränderungen bei den Geschwistern 2er Patienten mit Stickler-Syndrom. Untersuchung 2er Familien.