- Full text PDF available (4)
- This year (0)
- Last 5 years (0)
- Last 10 years (6)
Journals and Conferences
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)
A kindred of German descent was studied for dominant optic atrophy, type Kjer (McKusick catalog no. 16540). One hundred twenty-three family members were examined clinically, and 36 affected, 81 normal, and six uncertain members were ascertained. Twenty-seven markers were analyzed for 121 members. The maximum lod score obtained was 2.0 at theta = .18 for… (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)
The syndrome of pseudotumor cerebri consists of headaches, difficulty with vision and papilledema associated with raised intracranial pressure (ICP) without localizing neurological mass lesions. Recently, an association of pseudotumor cerebri and renal insufficiency, chronic dialysis or renal transplantation has been noted. Loss of vision remains a serious… (More)
PURPOSE The purpose of the study was to examine spherical equivalent refractive errors, especially myopia, at six ages between 3 months and 5 1/2 years post-term in preterm children with birth weights of less than 1251 g. DESIGN A cohort study. PARTICIPANTS There were a total of 827 participants in the multicenter study of cryotherapy for retinopathy of… (More)
We report on a child with an unusual mesomelic bone dysplasia and Peters anomaly. While there is some resemblance to the radiographic findings and corneal clouding described by Pillay in the OMMD (ophthalmomandibulo-melic dysplasia) syndrome, there are also differences. The several syndromes that combine brachymesomelia and corneal clouding are discussed.
PURPOSE To examine the ophthalmologic experience with the shaken baby syndrome (SBS) at one medical center, including clinical findings, autopsy findings, and the visual outcome of survivors. METHODS One hundred sixteen patients admitted from 1987 to 1998 for subdural hematomas of the brain secondary to abuse were included. RESULTS Retinal hemorrhages… (More)
Retinal hemorrhages are the most common fundus finding in the shaken baby syndrome. They vary in type and location; no particular type is pathognomonic for the condition. Retinal hemorrhages are not needed to make a diagnosis of shaken baby syndrome. However, in a child under age 3 years, the presence of extensive bilateral retinal hemorrhages raises a very… (More)
OBJECTIVE To demonstrate the severity of ocular findings in young children who died of injuries due to motor vehicle crashes. METHODS Case series of 10 children younger than 3 years who were fatally injured in motor vehicle crashes between January 1, 1994, and December 31, 2002. All children underwent autopsy that included eye examination. All available… (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.