Wagner vitreoretinal degeneration. Follow-up of the original pedigree.

PURPOSE: Wagner disease belongs to a heterogeneous group of hereditary vitreoretinal degenerations. The authors have observed complications of this disorder that have not been reported before and therefore re-examined Wagner's original pedigree to further delineate the spectrum of the associated findings and its prognosis. METHODS: Sixty members of the family agreed to be examined. All had complete clinical eye examinations, 40 had dark adaptation studies as well as single-flash and Ganzfeld rod and cone electroretinography. Fluorescein angiograms were performed in selected patients. RESULTS: Twenty-eight family members were affected. The most consistent finding was an empty vitreous cavity with avascular strands or veils. Chorioretinal atrophy and cataract increased with the patients' age and had occurred in all patients older than 45 years of age. Four patients had a history of a rhegmatogenous retinal detachment in one eye at a median age of 20 years. The authors observed peripheral tractional retinal detachments in 55% of eyes among patients older than 45 years. Glaucoma was present in ten eyes (18%), four of which showed neovascular glaucoma. Of all patients, 63% showed elevated rod and cone thresholds on dark adaptation, and 87% showed subnormal b-wave amplitudes of the rod- and of the cone system on the electroretinography. CONCLUSIONS: Clinical expressivity of Wagner disease varies from unaffected carriers to bilateral blindness. Rhegmatogenous retinal detachment is observed infrequently, whereas peripheral traction retinal detachment, chorioretinal atrophy, and cataracts are present in most of the elderly affected individuals. Progression of the chorioretinal pathology is paralleled by electrophysiologic abnormalities.

Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14.

BACKGROUND: Wagner disease and erosive vitreoretinopathy are potentially blinding autosomal dominant diseases that share some similarities with Stickler syndrome. However, both disorders have associated retinal pigment epithelial changes, poor night vision, visual field defects, and abnormal electroretinographic findings, which are not found in families with COL2A1-associated Stickler syndrome. In addition, rhegmatogenous retinal detachments are uncommon in Wagner disease but occur in approximately 50% of patients with either Stickler syndrome or erosive vitreoretinopathy. OBJECTIVES: To identify the chromosomal location of the genes involved in Wagner disease and erosive vitreoretinopathy and to distinguish these conditions genetically from Stickler syndrome. METHODS: Fifteen affected members of a family affected with erosive vitreoretinopathy and 24 affected descendants of the pedigree described by Wagner were genotyped with a set of short tandem repeat polymorphisms distributed across the genome. RESULTS: Significant linkage was observed in each family between the disease phenotype and markers that map to chromosome 5q13-14. The highest lod score for the family affected with erosive vitreoretinopathy was 4.2 and was obtained with marker GATA3H06 (theta = 0). The highest lod score for the family affected with Wagner disease was 5.8 and was obtained with marker D5S815 (theta = 0). A candidate gene (cartilage link protein) that is known to lie near the linked interval was screened for mutations, but none was found in either family. CONCLUSIONS: These data suggest that erosive vitreoretinopathy and Wagner disease are allelic disorders and demonstrate that they are genetically distinct from COL2A1-associated Stickler syndrome.

[Unusual forced head postures in congenital paralysis of the superior oblique muscle]. / Ungewöhnliche Kopfzwangshaltungen bei kongenitaler Parese des M. obliquus superior.

BACKGROUND: With congenital superior oblique palsy, an abnormal head posture which is different from the usual one (head tilt) has hardly been described. We performed this study to point out the spectrum of atypical head posture and its operative treatment procedures. PATIENTS: The charts of all 103 patients with congenital superior oblique palsy which were seen at our clinic between 1983 and 1993 were reviewed. RESULTS: 13 patients (13%) had an atypical head posture. Group 1: patients with a face turn to the non-involved side (n = 5). The vertical deviation increased abruptly starting from the primary position; is was comitant in adduction. Combined surgery of the obliques muscles was most often performed (n = 3). Group 2: patients with a vertical abnormal head posture. 3 Patients presented with a chin elevation. Their vertical deviation was incomitant, it was smallest in downgaze. An isolated recession of the inferior oblique muscle was performed in all cases. One patient had a chin depression; she also had an esotropia in downgaze. A recession of the inferior oblique muscle was performed. Group 3: patients with a face turn and a chin elevation (n = 4). Vertical deviation was maximal in adduction and was smallest in the lower and temporal field of gaze. We performed first a recession of the inferior oblique muscle and then-if necessary-a tuck of the superior oblique muscle or a recession of the contralateral inferior rectus muscle. CONCLUSIONS: An atypical head posture can occur in about 10% of cases. Its cause can be explained after checking the incomitance of the vertical deviation and the motility disorder. These parameters also determine the operative procedures.