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Source publication
Enchondral ossification disorders of autosomal dominant congenital origin include achondroplasia, among others. Low stature, craniofacial deformity, and spinal abnormality are its clinical hallmarks. Some of the associated ocular characteristics are telecanthus, exotropia, angle abnormalities, and cone-rod dystrophy. A 25-year-old female presented...
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Background: Glaucoma is a leading cause of blindness in the world, second only to cataract. Awareness of the nature and treatment of a common eye condition such as glaucoma could be important, as this could translate to better uptake of treatment, thereby reducing the risk of progression to irreversible blindness or ocular damageMethods: This study...
Key Clinical Message
This case report aims to emphasize that subacute occurrence of nuclear cataract might be one of the underestimated manifestations of mitochondrial encephalomyopathy, thus periodical ophthalmologic examinations are recommended.
Citations
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.
