A Rare Case of Achondroplasia With Bilateral Developmental Cataract

一例罕见的软骨发育不全合并双侧发育性白内障病例

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Abstract

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 to the Ophthalmology outpatient department (OPD) with the classical clinical signs of achondroplasia and developmental cataracts in both eyes. She also had associated esotropia in the left eye. Achondroplasia patients should be screened for developmental cataracts to enable timely intervention and management.

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