Nwosu Sebastian N N, Ndulue Chikaodili U, Ndulue Oluchi I, Uba-Obiano Chizoba U
Department of Ophthalmology, Nnamdi Azikiwe University, Awka, Nigeria.
Centre for Eye Health Research and Training, Nnamdi Azikiwe University, Awka, Nigeria.
J West Afr Coll Surg. 2020 Apr-Jun;10(2):30-35. doi: 10.4103/jwas.jwas_65_21. Epub 2022 Mar 26.
Retinitis pigmentosa describes a heterogenous group of progressive hereditary degeneration of the photoreceptor-retinal pigment epithelium complex with varying clinical manifestations. Although studies on the epidemiology of blindness and visual impairment in Nigeria have documented the contribution of retinitis pigmentosa, detailed study of the prevalence, incidence, and pattern of retinitis pigmentosa in Nigeria are few.
The aim of this study was to describe the relative frequency rate and pattern of retinitis pigmentosa among new patients at the Guinness Eye Center Onitsha Nigeria.
Case files of new patients with clinical features of retinitis pigmentosa seen over a 6-year period were reviewed. Information on age, sex, and associated clinical features were extracted into a standard proforma and analyzed.
Thirty-seven (0.6%) of 5876 new patients had retinitis pigmentosa. There were 25 (67.6%) males and 12 (32.4%) females with an age range of 4-76 years; the median age was 33 years. Family history suggested autosomal dominant inheritance in 15 (40.6%) patients, autosomal recessive inheritance 4 (10.8%), X-linked inheritance 9 (24.3%), and 9 (24.3%) sporadic. Six (16.2%) patients were blind (acuity <3/60) and 22 (59.5%) patients had visual impairment (acuity <6/18). Eight (21.6%) patients had coexistent deafness (syndromic retinitis pigmentosa) including two (5.4%) cases of Usher syndrome.
The relative frequency rate of retinitis pigmentosa among new patients in our hospital is low but the associated visual and otologic incapacitation are enormous. A prospective study incorporating molecular genetics would more exactly determine the inheritance pattern and the common genes of retinitis pigmentosa in Nigerians.
视网膜色素变性描述了一组具有不同临床表现的光感受器 - 视网膜色素上皮复合体进行性遗传性变性的异质性疾病。尽管关于尼日利亚失明和视力损害流行病学的研究记录了视网膜色素变性的影响，但对尼日利亚视网膜色素变性的患病率、发病率和模式的详细研究却很少。
本研究的目的是描述尼日利亚奥尼查吉尼斯眼科中心新患者中视网膜色素变性的相对频率和模式。
回顾了6年间具有视网膜色素变性临床特征的新患者的病历。将年龄、性别和相关临床特征的信息提取到标准表格中并进行分析。
5876名新患者中有37名（0.6%）患有视网膜色素变性。其中男性25名（67.6%），女性12名（32.4%），年龄范围为4至76岁；中位年龄为33岁。家族史提示15名（40.6%）患者为常染色体显性遗传，4名（10.8%）为常染色体隐性遗传，9名（24.3%）为X连锁遗传，9名（24.3%）为散发性。6名（16.2%）患者失明（视力<3/60），22名（59.5%）患者有视力损害（视力<6/18）。8名（21.6%）患者合并耳聋（综合征性视网膜色素变性），其中包括2例（5.4%）Usher综合征。
我院新患者中视网膜色素变性的相对频率较低，但相关的视力和听力丧失情况严重。纳入分子遗传学的前瞻性研究将更准确地确定尼日利亚人视网膜色素变性的遗传模式和常见基因。
