OBSOLETE: Infantile non-syndromic cataract

Infantile non-syndromic cataract (Orphanet code 217052) is an obsolete clinical entity that was previously used to describe congenital or early-onset lens opacities (cataracts) occurring in infants without associated systemic features (i.e., not part of a broader genetic syndrome). This condition has been reclassified and merged into broader categories of isolated or non-syndromic congenital cataracts within the Orphanet classification system. Non-syndromic congenital cataracts affect the lens of the eye, leading to partial or complete opacification that can impair vision development during a critical period of visual maturation. If left untreated, significant cataracts in infancy can result in amblyopia (lazy eye) and permanent visual impairment. Congenital cataracts can present in various morphological forms, including nuclear, lamellar, cortical, posterior polar, or total cataracts. The condition may be unilateral or bilateral. Isolated (non-syndromic) congenital cataracts can be inherited in autosomal dominant, autosomal recessive, or X-linked patterns, depending on the specific genetic cause. Numerous genes have been implicated, including those encoding crystallins (e.g., CRYAA, CRYBB2, CRYGD), connexins (e.g., GJA3, GJA8), and other lens-related proteins. Treatment typically involves surgical removal of the opacified lens, often followed by optical correction with intraocular lens implantation, contact lenses, or glasses, along with amblyopia therapy. Early intervention is critical to optimize visual outcomes. Because this Orphanet entry is now obsolete, patients and clinicians should refer to the current classification of non-syndromic congenital cataracts for up-to-date information.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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