Microphthalmia, Anophthalmia, and Medical Negligence in Chicago
Microphthalmia and anophthalmia are uncommon congenital conditions involving the development of one or both eyes. With microphthalmia, an eye formed but is substantially smaller than expected and may contain other structural abnormalities. With anophthalmia, an eye is absent from the affected socket.
Either condition may involve one eye or both. An eye affected by anophthalmia has no vision. A child with microphthalmia may retain some useful vision or may experience profound vision loss, depending on the eye’s anatomy and associated conditions.
Most cases of microphthalmia and anophthalmia are not caused by medical malpractice. Genetic or chromosomal changes can be involved, but the precise cause remains uncertain for many children. The diagnosis alone does not demonstrate that a physician, hospital, pharmaceutical company, or another party acted negligently.
A legal issue may arise in limited circumstances involving a significant prenatal imaging or communication error, negligent management of a medication with a well-established pregnancy risk, delayed specialist care, or preventable injury during surgery or follow-up treatment.
Free legal evaluation: When the concern involves a particular medical error rather than the congenital condition alone, contact Sexner Injury Lawyers LLC or call (312) 243-9922.
Understanding the Difference Between the Conditions
Microphthalmia
Microphthalmia occurs when an eye does not complete its normal development and remains unusually small. The visible size of the eye does not always reveal how much vision is present. A small eye may have limited but useful vision, or it may have severe abnormalities that substantially impair sight.
Other eye conditions that can occur with microphthalmia include:
- Coloboma, involving missing tissue within part of the eye
- Cataract, or clouding of the eye’s natural lens
- Microcornea, in which the cornea is unusually small
- Abnormal retinal development
- Retinal detachment
- Differences in the optic nerve
Anophthalmia
Anophthalmia means that an eye is absent from one or both orbital sockets. A child with unilateral anophthalmia may have vision through the other eye. Bilateral anophthalmia results in blindness because neither eye is present.
Severe microphthalmia can sometimes resemble anophthalmia during an initial examination because the remaining eye tissue is extremely small. Imaging and a specialist evaluation may help define the anatomy more accurately.
Isolated and Syndromic Conditions
Microphthalmia or anophthalmia may occur as an isolated eye condition. In other children, it appears together with abnormalities involving the brain, face, ears, heart, skeleton, endocrine system, or another part of the body.
These eye conditions can also form part of a recognized genetic syndrome. For that reason, a complete evaluation may include:
- A detailed examination of both eyes
- A general physical and neurological examination
- Review of the child’s prenatal and family history
- Genetic counseling and testing
- Brain or orbital imaging
- Hearing, endocrine, cardiac, or other specialty evaluations when indicated
General medical information is available from the Centers for Disease Control and Prevention.
Possible Causes and Risk Factors
In many individual cases, medicine cannot determine exactly why the eye failed to develop normally. Some cases are associated with a change in a gene or chromosome. The change may occur for the first time in the child or, less commonly, may be inherited.
Recognized causes also include prenatal exposure to certain medications, particularly:
- Isotretinoin: An oral retinoid used to treat severe acne and sold under several brand names, including the former Accutane brand
- Thalidomide: A tightly controlled medication used for certain cancers and other medical conditions
Other possible genetic, infectious, or environmental influences continue to be studied. A reported association does not automatically establish that a particular exposure caused an individual child’s condition.
Isotretinoin and Pregnancy
Oral isotretinoin presents a well-established risk of severe fetal abnormalities and is contraindicated during pregnancy. Its restricted-distribution program requires pregnancy precautions, testing, counseling, and documentation for patients who can become pregnant.
Exposure does not automatically establish medical malpractice. A case-specific investigation may need to determine:
- Whether the patient was pregnant or could become pregnant
- Whether required pregnancy testing was performed
- Whether pregnancy-prevention requirements were followed
- Whether the prescriber and pharmacy completed required safety procedures
- Whether the patient received accurate warnings and instructions
- When the medication was taken in relation to fetal development
- Whether reliable medical evidence connects the exposure to the child’s abnormalities
Current information about isotretinoin pregnancy precautions is available through the FDA’s iPLEDGE safety program.
Medication Exposure Does Not Automatically Establish Negligence
A medication-related legal review must examine the particular drug, dosage, timing, medical purpose, alternatives, known risks, and information available when the treatment decision was made.
Relevant questions may include:
- Was the medication contraindicated during pregnancy?
- Did the provider know or reasonably need to determine that the patient was pregnant?
- Were appropriate warnings and pregnancy-prevention measures provided?
- Was a safer and medically reasonable alternative available?
- Did a pharmacy dispense a medication contrary to required restrictions?
- Can qualified specialists reliably establish individual medical causation?
A pregnant patient should not stop a prescribed medication without first discussing the risks and alternatives with an appropriate healthcare provider. Information about preventable prescribing and dispensing mistakes is available on our medication and prescription error page.
Diagnosis During Pregnancy
Some severe cases can be identified or suspected during a prenatal ultrasound. The examiner may observe that an eye, lens, or orbital structure appears absent, unusually small, or different from the corresponding structure on the other side.
When concern arises, additional evaluation may include:
- A detailed fetal anatomy ultrasound
- Repeat imaging by a maternal-fetal medicine specialist
- Evaluation of both eye sockets, lenses, face, brain, and other organs
- Fetal MRI when it may clarify anatomy not fully shown by ultrasound
- Genetic counseling and diagnostic testing
- Consultation with pediatric ophthalmology or another appropriate specialist
Not every case can be recognized before birth. Detection may be affected by gestational age, fetal position, image quality, the severity of the abnormality, the structures examined, and whether another fetal condition is present.
A normal prenatal ultrasound therefore cannot guarantee that both eyes are structurally normal.
Diagnosis After Birth
After delivery, a provider may identify the condition through examination of the baby’s eyes, eyelids, and orbital sockets. A prompt referral to pediatric ophthalmology can help determine whether eye tissue is present, whether any vision can be preserved, and whether another eye abnormality requires treatment.
Further testing may include:
- A comprehensive ophthalmic examination
- Ultrasound, MRI, or CT imaging of the eye socket and surrounding structures
- Visual-response testing
- Genetic testing
- Evaluation for cataract, coloboma, retinal abnormality, or optic-nerve involvement
- Assessment for other congenital or developmental conditions
Treatment Cannot Create an Eye or Restore Absent Vision
There is no treatment that can create a normally functioning eye or restore vision that never developed. Treatment instead focuses on supporting orbital and facial growth, preserving any existing vision, improving symmetry and appearance, and helping the child develop safely and independently.
Conformers and Orbital Growth
The eye and surrounding tissues contribute to growth of the orbital socket and nearby facial bones. When an eye is absent or extremely small, the affected socket may not expand at the same rate as the other side.
An ocularist may fit the baby with a smooth plastic device known as a conformer or expander. The device helps maintain space and gradually encourages growth of the socket. As the child grows, progressively larger conformers may be required.
Early and consistent follow-up can be important because poorly fitting devices may cause irritation, discharge, discomfort, or inadequate expansion.
Prosthetic Eyes and Scleral Shells
Once sufficient orbital growth has occurred, a child may be fitted with a custom prosthetic eye. A prosthesis supports facial symmetry and appearance but does not provide vision.
A child with microphthalmia may sometimes use a scleral shell that fits over the smaller eye. The device must be planned carefully when the affected eye retains vision so that treatment does not unnecessarily block or interfere with usable sight.
Preserving Available Vision
When microphthalmia affects one eye, treatment may attempt to maximize the vision available in that eye. Depending on the child’s condition, care may include:
- Prescription glasses or contact lenses
- Amblyopia treatment, sometimes involving patching of the stronger eye
- Surgery for cataract or another treatable eye abnormality
- Low-vision services
- Regular examinations to monitor the retina and optic nerve
When only one eye provides useful vision, protective glasses or safety eyewear may be recommended to reduce the risk of injury to that eye.
Specialists Who May Participate in Care
A coordinated medical team may include:
- Pediatric ophthalmologist: Evaluates vision and eye structure and treats associated eye disorders
- Ocularist: Designs, fits, and adjusts conformers, scleral shells, and prosthetic eyes
- Orbital or oculoplastic surgeon: Treats the eye socket, eyelids, and surrounding tissues
- Clinical geneticist or genetic counselor: Evaluates possible hereditary or syndromic causes
- Low-vision and early-intervention specialists: Help the child develop mobility, communication, and learning skills
Depending on associated findings, the child may also need neurology, endocrinology, cardiology, hearing, rehabilitation, or other specialty services.
Most Cases Do Not Involve Medical Malpractice
The congenital condition itself ordinarily does not establish negligence. A potential case generally requires a separate medical failure that caused additional harm or deprived the family of important medical information.
When Could Medical Negligence Be Relevant?
Prenatal Imaging or Communication Errors
A legal review may be appropriate when:
- A significant eye or orbital abnormality was clearly visible but overlooked
- Required fetal anatomy images were not obtained or documented
- An ultrasound or other study was interpreted incorrectly
- Recommended follow-up imaging was not arranged
- An abnormal result was not communicated to the patient or another provider
- A medically indicated referral to maternal-fetal medicine, genetics, or another specialist was unreasonably delayed
A missed prenatal diagnosis does not mean that the provider caused the eye condition. It also does not automatically establish malpractice. A review must consider what could reasonably have been detected, whether the provider complied with the applicable standard of care, and whether timely information would have affected medical planning or the parents’ informed decisions.
These circumstances may overlap with a prenatal imaging error, a broader diagnostic-error claim, or, in limited circumstances, a wrongful birth claim.
Negligent Management of a Known High-Risk Medication
Potential concerns involving isotretinoin or another established teratogen may include:
- Prescribing or dispensing the medication despite a known pregnancy
- Failure to perform required pregnancy testing
- Failure to follow mandatory risk-management requirements
- Failure to provide required warnings or contraception counseling
- Incorrect documentation that permitted the medication to be dispensed
- Failure to respond appropriately when pregnancy occurred during treatment
Even when an error occurred, qualified medical experts must still determine whether the exposure probably caused the child’s particular condition.
Delayed Specialist Care After Birth
Early treatment cannot restore an absent eye, but delay may affect socket growth, facial symmetry, vision preservation, or treatment of another eye disorder.
A case-specific review may be appropriate when a provider:
- Failed to recognize an obvious eye abnormality
- Unreasonably delayed referral to pediatric ophthalmology or an ocularist
- Failed to investigate usable vision in a small eye
- Failed to diagnose a treatable cataract, retinal problem, or other associated condition
- Failed to recommend protection of the child’s only functioning eye
- Failed to arrange appropriate developmental or low-vision services
Negligent Surgery or Device Management
Known complications can occur even when care is appropriate. A possible legal issue may exist when preventable harm results from:
- Inadequate surgical planning
- Damage to viable eye tissue, the optic nerve, eyelid, or surrounding structures
- A preventable surgical error
- An anesthesia, medication, or monitoring mistake
- Failure to recognize infection, impaired circulation, wound breakdown, or device injury
- Failure to adjust or replace a conformer that no longer fits
- Inadequate postoperative or long-term follow-up
Records Used to Evaluate a Potential Case
A medical and legal review may require:
- Prenatal and obstetric records
- Ultrasound reports and original images
- Fetal MRI or other prenatal imaging
- Maternal-fetal medicine and genetic-counseling records
- Medication, pregnancy-testing, pharmacy, and safety-program records
- Delivery and newborn examination records
- Ophthalmology and ocularist records
- Orbital imaging and visual-testing results
- Conformer and prosthetic-device records
- Surgical and anesthesia reports
- Early-intervention, therapy, and low-vision records
- Postoperative and long-term follow-up documentation
Qualified experts may need to distinguish the effects of the congenital eye condition from any additional harm allegedly caused by delayed diagnosis, medication mismanagement, surgery, or inadequate follow-up.
Contact Sexner Injury Lawyers LLC
Most children with microphthalmia or anophthalmia do not have a medical malpractice claim. A legal evaluation may be appropriate when there is a specific concern involving prenatal imaging, communication of results, use of a known high-risk medication, delayed specialist care, surgery, or device management.
Contact Sexner Injury Lawyers LLC or call (312) 243-9922 for a free and confidential evaluation. We will explain honestly whether the circumstances appear to justify further investigation.
