Assuntos
Diabetes Mellitus Tipo 2/fisiopatologia , Hiperglicemia/fisiopatologia , Doenças Retinianas/diagnóstico , Adulto , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/tratamento farmacológico , Humanos , Insulina , Masculino , Metformina , Doenças Retinianas/etiologia , Transtornos da Visão/diagnóstico , Transtornos da Visão/etiologiaRESUMO
Two cases of ocular syphilis are described in HIV-infected individuals after unprotected oral sex. The primary syphilitic lesion remained unnoticed and lues was therefore only diagnosed after visual symptoms developed.
Assuntos
Infecções Oculares Bacterianas/transmissão , Infecções por HIV/complicações , Comportamento Sexual , Sífilis/transmissão , Adulto , Infecções Oculares Bacterianas/complicações , Humanos , Masculino , Sífilis/complicaçõesRESUMO
A Dutch family with autosomal dominant retinitis pigmentosa (adRP) displayed a phenotype characterized by an early age of onset, a diffuse loss of rod and cone sensitivity, and constricted visual fields (type I). One male showed a mild progression of the disease. Linkage analysis showed cosegregation of the genetic defect with markers from chromosome 17p13.1-p13.3, a region overlapping the RP13 locus. The critical interval of the RP locus as defined in this family was flanked by D17S926 and D17S786, with a maximal lod score of 4.2 (theta = 0.00) for marker D17S1529. Soon after the mapping of the underlying defect to the 17p13 region, a missense mutation (6970G>A; R2310K) was identified in exon 42 of the splicing factor gene PRPC8 in one patient of this family. Diagnostic restriction enzyme digestion of exon 42 amplified from genomic DNA of all family members revealed that the R2310K mutation segregated fully with the disease. The type I phenotype observed in this family is similar to that described for three other RP13 families with mutations in PRPC8.
Assuntos
Proteínas de Transporte/genética , Cromossomos Humanos Par 17/genética , Ligação Genética , Mutação de Sentido Incorreto , Retinose Pigmentar/genética , Proteínas Adaptadoras de Transdução de Sinal , Adolescente , Adulto , Criança , Mapeamento Cromossômico , Análise Mutacional de DNA , Primers do DNA/química , Proteínas do Olho , Feminino , Genes Dominantes , Humanos , Masculino , Linhagem , Reação em Cadeia da Polimerase , RNA Mensageiro/metabolismo , Proteínas de Ligação a RNA , Retinose Pigmentar/patologiaRESUMO
Retinitis pigmentosa (RP) is a genetically heterogeneous disorder characterized by progressive degeneration of the peripheral retina leading to night blindness and loss of visual fields. With an incidence of approximately 1 in 4000, RP can be inherited in X-linked, autosomal dominant or autosomal recessive modes. The RP13 locus for autosomal dominant RP (adRP) was placed on chromosome 17p13.3 by linkage mapping in a large South African adRP family. Using a positional cloning and candidate gene strategy, we have identified seven different missense mutations in the splicing factor gene PRPC8 in adRP families. Three of the mutations cosegregate within three RP13 linked families including the original large South African pedigree, and four additional mutations have been identified in other unrelated adRP families. The seven mutations are clustered within a 14 codon stretch within the last exon of this large 7 kb transcript. The altered amino acid residues at the C-terminus exhibit a high degree of conservation across species as diverse as humans, Arabidopsis and trypanosome, suggesting that some functional significance is associated with this part of the protein. These mutations in this ubiquitous and highly conserved splicing factor offer compelling evidence for a novel pathway to retinal degeneration.
