RESUMO
A family was previously reported as suffering from severe granular dystrophy. The phenotypic picture suggested a mix of homozygous and heterozygous family members. Genetic analysis confirms the homozygousity in the patients most severely affected, but shows the disease state to be one of Avellino corneal dystrophy. The previous case reports are extended immunohistological staining using polyclonal antibodies raised against keratofepithelin. This genotype/phenotype correlation study is consistent with incomplete dominance.
Assuntos
Distrofias Hereditárias da Córnea/genética , Proteínas da Matriz Extracelular/genética , Proteínas do Olho/genética , Fator de Crescimento Transformador beta/genética , Adolescente , Criança , Distrofias Hereditárias da Córnea/patologia , Distrofias Hereditárias da Córnea/cirurgia , Transplante de Córnea/métodos , Saúde da Família , Feminino , Homozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Linhagem , Fenótipo , Acuidade Visual/genéticaRESUMO
PURPOSE: To evaluate the visual outcome and safety of simultaneous bilateral cataract extraction. SETTING: Stobhill Hospital NHS Trust, Glasgow, United Kingdom. METHODS: This retrospective case review comprised 259 consecutive patients (518 eyes) who had simultaneous bilateral cataract surgery. Surgeries included bilateral extracapsular procedures, uniocular extracapsular procedures performed simultaneously with a different type of intraocular lens surgery in the other eye, and 1 bilateral intracapsular procedure. Outcome measures were postoperative best spectacle-corrected visual acuity (BSCVA), intraoperative and postoperative complication rates, and conjunctival swab culture results. RESULTS: Eighty-three percent of patients (75% of eyes) with measured preoperative and postoperative BSCVA achieved an acuity of 6/12 or better. Intraoperative and postoperative complication rates were similar to those in previous reports of unilateral extracapsular surgery and simultaneous bilateral cataract surgery. Endophthalmitis occurred in 1 eye (0.19%). There were no bilateral complications that resulted in visual loss. Cultures were positive from 42% of conjunctival swabs; 81% of positive cultures were coagulase-negative Staphylococcus and 10% were Staphylococcus aureus. CONCLUSIONS: Simultaneous bilateral cataract surgery did not lead to an increased incidence of serious intraoperative or postoperative complications, and visual acuity results were good.
Assuntos
Extração de Catarata/métodos , Acuidade Visual , Adulto , Idoso , Idoso de 80 Anos ou mais , Bactérias/isolamento & purificação , Túnica Conjuntiva/microbiologia , Feminino , Humanos , Complicações Intraoperatórias , Implante de Lente Intraocular , Lentes Intraoculares , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias , Estudos RetrospectivosRESUMO
There has been considerable controversy regarding the safety of topical chloramphenicol in ophthalmic practice. The evidence for associated haematopoietic toxicity in idiosyncratic and dose-dependent forms was reviewed. The 7 cases of idiosyncratic haematopoietic reactions associated with topical chloramphenicol reported in the literature are refutable evidence for the existence of such a response. In Scotland, despite extensive prescription of topical chloramphenicol, the incidence of acquired aplastic anaemia was found to be low, as were associated reports of blood dyscrasias throughout the UK. The epidemiology of acquired aplastic anaemia failed to make an association with topical chloramphenicol use. High-performance liquid chromatography (minimum detection limit 1 mg/l) was used to investigate whether serum accumulation of chloramphenicol occurred after topical therapy in 40 patients. The mean dose of chloramphenicol eye drops used after 1 week of treatment was 8.0 mg, and after 2 weeks, 15.3 mg. As expected, chloramphenicol failed to accumulate to detectable levels. This supported the view that topical chloramphenicol was not a risk factor for inducing dose-related bone marrow toxicity. Calls for the abolition of treatment with topical chloramphenicol based on current data are not supported.
Assuntos
Antibacterianos/efeitos adversos , Cloranfenicol/efeitos adversos , Doenças Hematológicas/induzido quimicamente , Inibidores da Síntese de Proteínas/efeitos adversos , Adulto , Idoso , Idoso de 80 Anos ou mais , Antibacterianos/sangue , Criança , Pré-Escolar , Cloranfenicol/sangue , Esquema de Medicação , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Soluções Oftálmicas , Inibidores da Síntese de Proteínas/sangueRESUMO
The Pulfrich phenomenon is a stereo-illusion resulting from latency disparities in the visual pathways. It is common after optic neuritis, but is also to be found with other conditions. The symptoms are often difficult for the patient to explain and for the physician to understand. Symptoms may be sufficiently disturbing to significantly interfere with a patient's life (e.g., prevention of driving). Treatment with the use of monocular tints is simple and effective.
Assuntos
Percepção de Profundidade/fisiologia , Percepção de Movimento/fisiologia , Transtornos da Percepção/fisiopatologia , Disparidade Visual , Óculos , Humanos , Modelos Biológicos , Transtornos da Percepção/diagnóstico , Transtornos da Percepção/terapia , Tempo de ReaçãoRESUMO
Three siblings with severe granular corneal dystrophy are described. They are most likely to be homozygous for the dominantly inherited gene. They are offspring of a consanguineous marriage, with both parents affected with corneal dystrophies. The case reports describe the severe course of this condition, requiring multiple grafting procedures. Clinical pictures of the family are shown.