Adegbehingbe Bernice O
Ophthalmology Unit, Department of Surgery, Faculty of Clinical Sciences, College of Health Sciences, Obafemi Awolowo University, Ile-Ife, Nigeria.
Afr Health Sci. 2008 Mar;8(1):50-3.
To present a scourge of blindness possibly due to an inherited condition causing retinal detachment in 3 siblings
In February 2004, three siblings from a monogamous family from Ipetu-Ijesha in Osun state, Nigerian presented to the author consecutively with history of visual impairment/ blindness. A detailed history and comprehensive ocular examination was conducted on each of them. Information obtained included patients demographic, family history of blindness, eye diseases and other medical conditions. Visual acuity assessment, slit lamp examination, direct and indirect ophthalmoscopy, intra-ocular pressure measurement, visual field test and systemic evaluation were conducted on each of the patients.
Two males and a female patient from the same parents who were systemically healthy are reported. Their ages were 67 years, 58 years and 52 years respectively. Each presented with bilaterally poor vision ranging from 6/36 to no light perception, intra-ocular pressure ranging between 6 and 18mmHg and bilateral grayish white bullous retinal detachment.
The mode of inheritance in these patients was most probably autosomal dominant or X-linked recessive. Ignorance and poverty causing failure to seek prompt specialize eye care were responsible for blindness in these siblings.
介绍一种可能由遗传性疾病导致3名兄弟姐妹视网膜脱离进而引发失明的灾祸
2004年2月，来自尼日利亚奥孙州伊佩图-伊杰沙一个一夫一妻制家庭的3名兄弟姐妹相继前来找作者就诊，均有视力损害/失明病史。对他们每个人都进行了详细的病史询问和全面的眼部检查。获取的信息包括患者的人口统计学资料、失明家族史、眼部疾病及其他健康状况。对每位患者都进行了视力评估、裂隙灯检查、直接和间接检眼镜检查、眼压测量、视野检查及全身评估。
报告了来自同一对父母且全身健康的2名男性和1名女性患者。他们的年龄分别为67岁、58岁和52岁。每个人均表现为双眼视力差，范围从6/36至无光感，眼压在6至18mmHg之间，以及双侧灰白色大泡状视网膜脱离。
这些患者的遗传方式很可能是常染色体显性遗传或X连锁隐性遗传。无知和贫困导致未能及时寻求专业眼科护理是这些兄弟姐妹失明的原因。
