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Linkage analysis of 15 Utah kindreds demonstrated that a gene responsible for von Recklinghausen neurofibromatosis (NF) is located near the centromere on chromosome 17. The families also gave no evidence for heterogeneity, indicating that a significant proportion of NF cases are due to mutations at a single locus. Further genetic analysis can now refine… (More)
The disappearance of the cherry-red spot in an otherwise typical patient with Tay-Sachs disease is described and illustrated. This clinical observation has rarely been made, but it is consistent with the pathological finding of loss of retinal ganglion cells. Disappearance of the cherry-red spot has also been observed in GM1 generalized gangliosidosis, the… (More)
Unlike the joints, ocular involvement with juvenile rheumatoid arthritis is most often asymptomatic; yet, the inflammation can cause serious morbidity with loss of vision. Scheduled slit-lamp examinations by an ophthalmologist at specific intervals can detect ocular disease early, and prompt treatment can prevent vision loss.
We report on a mother and son affected with an unusual skeletal dysplasia and anterior segment eye abnormalities. Their skeletal phenotype overlaps with the SHOX-related skeletal dysplasias and is intermediate between Leri-Weill dyschondrosteosis (LWD) and Langer Mesomelic dysplasia (LMD). The mother has bilateral Peters anomaly of the eye and was reported… (More)
When retinal disparity exceeds the limits for fusion, the resulting images are perceived as diplopic. In a stereo test that allowed comparison of crossed and uncrossed disparity sensitivities, 74% of the subjects perceived convergent disparities more readily than divergent disparities. This asymmetric sensitivity to disparity did not appear to be related to… (More)
A retrospective study was made of 16 premature infants who were visually inattentive despite normal eye findings and a lack of factors predisposing them to cerebral blindness. A comparison of this study group with other premature infants who were visually attentive revealed a much greater incidence of upper motor neuron disease and mental retardation in the… (More)
The auditory brain-stem response (ABR) can detect anomalies both in the auditory pathways and in structures adjacent to these pathways. Patients with Duane's retraction syndrome, associated with hypoplasia of the abducens nerve in the brain-stem, and patients with hemifacial spasm, due to compression of the facial nerve in the brain-stem, have been found to… (More)