Victor Godel

Learn More
Usher syndrome is a group of autosomal recessive disorders associated with congenital sensorineural deafness and progressive visual loss due to retinitis pigmentosa. Sixteen members of the small inbred Samaritan isolate with autosomal recessive deafness were studied in 10 related sibships. DNA samples from 59 individuals including parents and affected and(More)
We examined and evaluated the ophthalmological findings of 47 patients with Best's Vitelliform Macular Dystrophy (BVMD) and 5 cases suffering from related conditions to this macular disorder. Our sample re-confirm that BVMD is a progressive disease which may have several appearances in the course of its evolution. The heredity of this disorder is autosomal(More)
In a sample of 150 deaf children, 45.3% were found to present ocular anomalies interfering with good vision. This high frequency of visual impairment contributes to the low-level functioning and lack of normal developmental drives characteristic of deaf children. Early identification, competent diagnosis and appropriate intervention by a team of specialists(More)
Two siblings suffering from congenital Leber amaurosis were found to be affected also by juvenile nephronophtisis. Keratoconus in one child and mental retardation in the other developed during their later growth. An extensive laboratory study showed normal results but revealed an impaired urinary concentrating ability. The hereditary pattern operating in(More)
The familial occurrence of retinal dysplasia in five affected male children suggested X-chromosome-linked recessive inheritance. The clinical features were childhood onset, severe visual impairment, head posture, nystagmus, and strabismus. The ophthalmoscopic findings varied in shape and extension; they ranged from retinal folds to dysplastic tissue(More)