Overview
Microphthalmia-cataract syndrome is a very rare inherited eye condition in which affected individuals are born with abnormally small eyes (microphthalmia) and clouding of the eye's natural lens (cataracts). Because this entry is now classified as 'obsolete' in Orphanet, it means the condition has likely been reclassified or merged into a broader category of microphthalmia syndromes as our understanding of the genetics has improved. The small eye size and cataracts are typically present at birth or noticed very early in life, and they can significantly affect vision. In some cases, only one eye may be affected, while in others both eyes are involved. The severity of vision loss varies widely, ranging from mild visual impairment to near-total blindness depending on the degree of microphthalmia and the density of the cataracts. Treatment focuses on managing the cataracts through surgery when possible and optimizing remaining vision with corrective lenses, low-vision aids, and supportive therapies. Early intervention is important to support visual development in infants and young children. Because this condition may now fall under updated disease classifications, patients and families should work closely with a clinical geneticist and ophthalmologist to determine the precise genetic diagnosis, which can guide prognosis and management.
Also known as:
Key symptoms:
Abnormally small eyes (one or both)Clouding of the lens of the eye (cataracts)Reduced vision or blindnessNystagmus (involuntary eye movements)Strabismus (crossed or misaligned eyes)Sensitivity to lightDifficulty with depth perceptionDelayed visual development in infancy
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Microphthalmia-cataract syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Microphthalmia-cataract syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to OBSOLETE: Microphthalmia-cataract syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the exact genetic cause of my child's condition, and does it affect other parts of the body?,Is cataract surgery recommended, and what are the risks and expected outcomes?,How much useful vision can we expect my child to have?,What early intervention services should we start right away?,Should other family members be tested for this genetic change?,Are there any clinical trials or new treatments being studied for this condition?,What follow-up schedule do you recommend for eye exams and monitoring?
Common questions about OBSOLETE: Microphthalmia-cataract syndrome
What is OBSOLETE: Microphthalmia-cataract syndrome?
Microphthalmia-cataract syndrome is a very rare inherited eye condition in which affected individuals are born with abnormally small eyes (microphthalmia) and clouding of the eye's natural lens (cataracts). Because this entry is now classified as 'obsolete' in Orphanet, it means the condition has likely been reclassified or merged into a broader category of microphthalmia syndromes as our understanding of the genetics has improved. The small eye size and cataracts are typically present at birth or noticed very early in life, and they can significantly affect vision. In some cases, only one eye
At what age does OBSOLETE: Microphthalmia-cataract syndrome typically begin?
Typical onset of OBSOLETE: Microphthalmia-cataract syndrome is neonatal. Age of onset can vary across affected individuals.