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A Rare Case of Achondroplasia With Bilateral Developmental Cataract

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 c...

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Detalles Bibliográficos
Autores principales: Bagewadi, Rasika, Tidake, Pravin, Jeria, Sandhya, Wanjari, Mayur B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9951635/
https://www.ncbi.nlm.nih.gov/pubmed/36843807
http://dx.doi.org/10.7759/cureus.34191
Descripción
Sumario: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.