Biomedical subjects

B Jay

Publications and source records attributed to B Jay.

11 recordsLinked to original sources

PubMed1992

Relapse following goniotomy for congenital glaucoma due to trabecular dysgenesis.

Three hundred and thirty-five eyes of 210 patients with congenital glaucoma due to trabecular dysgenesis were treated by goniotomy as the primary procedure in infancy. In 313 eyes (93.5%) glaucoma was controlled at one year following surgery. Using Kaplan Meier actuarial survival analysis we found that eyes controlled in infancy by one or more goniotomies are at risk of relapse of glaucoma for at least 15 years although 93% of eyes are still controlled five years after the initial surgery. Patients whose symptoms of congenital glaucoma presented at birth were more likely to relapse than those whose symptoms developed in the first few months of life. Eyes requiring multiple goniotomies in infancy were more likely to relapse than those controlled by a single procedure.

Follow-Up Studies↗

PubMed1992

Nine generations of a family with autosomal dominant retinitis pigmentosa and evidence of variable expressivity from census records.

We present a nine generation family with autosomal dominant retinitis pigmentosa (ADRP). Evidence of blindness in the early generations, as obtained from census returns and clinical records, and examination of current patients show variable expressivity with a spectrum which ranges from asymptomatic in late life to blindness in the third decade of life. The family is not linked to any of the chromosomal locations so far described in ADRP and further illustrates the heterogeneity of the disorder.

Adolescent↗

PubMed1991

Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment site.

Several mutations in the rhodopsin gene in patients affected by autosomal dominant retinitis pigmentosa (ADRP) have recently been described. We report four new rhodopsin mutations in ADRP families, initially identified as hetero-duplexed PCR fragments on hydrolink gels. One is an in-frame 12-bp deletion of codons 68 to 71. The other three are point mutations involving codons 190, 211, and 296. Each alters the amino acid encoded. The codon 190 mutation has been detected in 2 from a panel of 34 ADRP families, while the remaining mutations were seen in single families. This suggests that, consistent with a dominant condition, no single mutation will account for a large fraction of ADRP cases. The base substitution in codon 296 alters the lysine residue that functions as the attachment site for 11-cis-retinal, mutating it to glutamic acid. This mutation occurs in a family with an unusually severe phenotype, resulting in early onset of disease and cataracts in the third or fourth decade of life. This result demonstrates a correlation between the location of the mutation and the severity of phenotype in rhodopsin RP.

Amino Acid Sequence↗

PubMed1978

Procarbazine lung.

Explore the source record for details and available documents.

Humans↗

PubMed1978

Prevention of blindness from retinitis pigmentosa.

Prevention of blindness from retinitis pigmentosa is considered in three stages: what can be done at present; what is likely to be achieved within the next few years; and what can be envisaged for the more distant future.

Blindness↗

PubMed1976