Kishore H
Department of Ophthalmology, Al Nahdha Hospital, Muscat, Oman.
Oman J Ophthalmol. 2023 Oct 18;16(3):537-540. doi: 10.4103/ojo.ojo_42_23. eCollection 2023 Sep-Dec.
Achondroplasia is an autosomal dominant congenital disorder of endochondral ossification, induced by abnormal activity of fibroblast growth factor receptor 3. Affected individuals have short stature and often present with neurological and skeletal complications. Most have normal intelligence. Ocular association with achondroplasia include simple microphthalmos, congenital-onset glaucoma with presumed Axenfeld-Rieger anomaly, telecanthus, exotropia, inferior oblique overaction, angle anomalies, Duane retraction syndrome, cone-rod dystrophy, fundus albipunctatus, chorioretinal coloboma, macular coloboma, keratoconus, and developmental cataract. A 6-year-old achondroplasia boy with developmental delay had a high axial length (high myopia) in both eyes. This child had a left eye subluxated cataractous lens, while the other eye showed mild lens changes. All achondroplasia patients should be routinely screened in detail for lens and other ophthalmological anomalies so that they can undergo timely intervention and management.
软骨发育不全是一种常染色体显性遗传性软骨内成骨先天性疾病,由成纤维细胞生长因子受体3异常激活所致。患者身材矮小,常伴有神经和骨骼并发症。多数患者智力正常。软骨发育不全相关的眼部病变包括单纯小眼症、先天性青光眼伴Axenfeld-Rieger异常、内眦距增宽、外斜视、下斜肌亢进、房角异常、杜安眼球后退综合征、视锥视杆营养不良、白点状眼底、脉络膜视网膜缺损、黄斑缺损、圆锥角膜和发育性白内障。一名6岁患有发育迟缓的软骨发育不全男孩双眼眼轴长度较长(高度近视)。该患儿左眼晶状体半脱位并伴有白内障,而另一只眼晶状体有轻度改变。所有软骨发育不全患者都应常规接受详细的晶状体及其他眼科异常筛查,以便能及时得到干预和治疗。