Signs, Symptoms, and Ocular Complications of CPA
At a Glance
Congenital Primary Aphakia (CPA) is a condition where an infant is born without an eye lens. This causes complications like small eyes, cloudy corneas, and glaucoma. Parents must monitor for severe light sensitivity, tearing, or increased cloudiness, which require prompt medical attention.
Because Congenital Primary Aphakia (CPA) involves the complete absence of the lens from birth, the entire structure of the eye is affected [1]. As a parent, you may notice physical signs that look different from other newborns. Understanding these signs and the complications that can develop is essential for protecting your child’s eye health and comfort.
Visible Signs at Birth
In most cases, CPA is identified shortly after birth due to clear physical indicators. These include:
- Microphthalmos (Small Eye): One or both eyes may appear significantly smaller than average [2]. This happens because the lens is necessary for the eye to grow to its full, normal size [1].
- Corneal Opacity: The cornea—the clear “window” at the front of the eye—is often cloudy or white [2]. Parents and doctors may describe this as a silvery-blue or “sclerotic” appearance [3][4].
- Buphthalmos (Enlarged Eye): While many eyes with CPA are small, some may actually appear abnormally large [2]. This is usually a sign that the eye pressure was very high while the baby was still developing.
The Challenge of Eye Pressure: Glaucoma
One of the most critical complications to watch for is secondary developmental glaucoma [5]. This is a condition where the fluid pressure inside the eye becomes too high, which can damage the optic nerve.
In CPA, the drainage system of the eye (the anterior segment) is often poorly formed (dysgenesis) [2]. This structural failure makes it difficult for fluid to leave the eye. Unlike typical glaucoma, this “secondary” form in CPA is particularly difficult to treat because the anatomy of the eye is so unique [5]. Research indicates that approximately 20% of children with CPA will develop this type of high pressure [5].
Ciliary Body Dysgenesis and Eye Shrinkage
The ciliary body is the part of the eye that produces the fluid (aqueous humor) needed to maintain the eye’s shape. In children with CPA, the ciliary body is often hypoplastic (underdeveloped) or displaced [3]. This leads to two major risks:
- Unpredictable Pressure: The eye may swing between having pressure that is too high (glaucoma) or pressure that is too low (hypotony) [2].
- Phthisis Bulbi (Eye Shrinkage): If the ciliary body cannot produce enough fluid to keep the eye “inflated,” the eye can begin to shrink and lose its function entirely [2][3]. This is a significant risk after any type of eye surgery, as surgical trauma can further damage an already weak ciliary body [2].
What to Watch For: A Guide for Parents
Because your child may not be able to tell you if their eyes hurt, you should watch for these “red flag” symptoms that may indicate a change in eye pressure:
| Sign | Possible Meaning |
|---|---|
| Increased Cloudiness | A sudden increase in corneal clouding can mean the eye pressure is rising (Glaucoma) [2]. |
| Extreme Light Sensitivity (Photophobia) | Turning away from windows or crying in bright light is a classic sign of infantile glaucoma [2]. |
| Eye Rubbing or Squinting | This may be a sign of pain or discomfort from high pressure [6]. |
| Change in Eye Size | If an eye begins to look smaller or “softer,” it could indicate the pressure is dropping too low (Hypotony) [2]. |
| Excessive Tearing | Often a sign of irritation or high intraocular pressure in infants [2]. |
Other Internal Complications
Beyond pressure issues, the internal structures of a CPA eye may have other developmental gaps:
- Anterior Segment Dysgenesis: Tissues like the iris (the colored part of the eye) may be thin, missing, or stuck to other structures [7].
- Retinal Risks: While less common than pressure issues, the back of the eye (the retina) may be at a higher risk for detachment or poor development due to the overall small size of the eye [8].
Regular monitoring with a pediatric ophthalmologist is the only way to catch these complications early. Most doctors prefer to manage these issues with medications (eye drops) first, as surgery in CPA eyes carries a high risk of causing the eye to shrink [5][2].
Common questions in this guide
What are the first visible signs of Congenital Primary Aphakia in a newborn?
Why is glaucoma a major risk for children with CPA?
What signs indicate my child's eye pressure might be too high?
What is phthisis bulbi, and why does it happen in CPA?
Can surgery fix the eye pressure issues in CPA?
Questions to Ask Your Doctor
Curated prompts to bring to your next appointment.
- 1.What specific abnormalities were seen on the Ultrasound Biomicroscopy (UBM) regarding my child's ciliary body?
- 2.How often should my child's eye pressure be checked, and what specific method will be used to ensure it's accurate?
- 3.Given the high risk of phthisis (eye shrinkage), what are the absolute 'red flags' I should look for that indicate the pressure is too low?
- 4.If my child develops high eye pressure, what are our first-line medical options before considering surgery?
- 5.How does the 'silvery' appearance of the cornea affect your ability to monitor the health of the internal structures of the eye?
Questions For You
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References
References (8)
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PMID: 36183996 - 3
Anterior segment alterations in congenital primary aphakia-a clinicopathologic report of five cases.
Chaurasia S, Jakati S, Ramappa M, et al.
Indian journal of ophthalmology 2020; (68(8)):1564-1568 doi:10.4103/ijo.IJO_2078_19.
PMID: 32709777 - 4
Sclerocornea-Microphthalmia-Aphakia Complex: Description of Two Additional Cases Associated With Novel FOXE3 Mutations and Review of the Literature.
Quiroz-Casian N, Chacon-Camacho OF, Barragan-Arevalo T, et al.
Cornea 2018; (37(9)):1178-1181 doi:10.1097/ICO.0000000000001655.
PMID: 29878917 - 5
Secondary developmental glaucoma in eyes with congenital aphakia.
Badakere SV, Aulakh S, Achanta DSR, et al.
Indian journal of ophthalmology 2022; (70(3)):834-836 doi:10.4103/ijo.IJO_1782_21.
PMID: 35225525 - 6
Long-term life expectancy in severe traumatic brain injury: a systematic review.
DE Tanti A, Bruni S, Bonavita J, et al.
European journal of physical and rehabilitation medicine 2024; (60(5)):810-821 doi:10.23736/S1973-9087.24.08461-2.
PMID: 39291953 - 7
Lack of FOXE3 coding mutation in a case of congenital aphakia.
Sano Y, Matsukane Y, Watanabe A, et al.
Ophthalmic genetics 2018; (39(1)):95-98 doi:10.1080/13816810.2017.1350722.
PMID: 28805541 - 8
Outcomes of cataract surgery in children with persistent hyperplastic primary vitreous.
Jinagal J, Gupta PC, Ram J, et al.
European journal of ophthalmology 2018; (28(2)):193-197 doi:10.5301/ejo.5001017.
PMID: 28967071
This page provides educational information about Congenital Primary Aphakia symptoms and complications for parents and caregivers. Always consult a pediatric ophthalmologist for proper diagnosis, monitoring, and treatment of your child's eye health.
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