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Ophthalmic screening in phakomatoses
Bijal Kikani1,2, Sarah Stanley1, Aparna Ramasubramanian1
1Medical College of Wisconsin, Milwaukee, WI, United States.
Frontiers in Cell and Developmental Biology
|July 23, 2026
Summary
Phakomatoses are rare neurocutaneous syndromes that can cause vision loss. Early detection and multidisciplinary care are crucial for managing ocular complications and preserving vision in these patients.
Area of Science:
- Ophthalmology
- Genetics
- Neurology
Background:
- Phakomatoses are congenital neurocutaneous syndromes with diverse ocular and systemic manifestations.
- Ocular conditions associated with phakomatoses can be asymptomatic initially but may lead to irreversible vision loss.
- Timely diagnosis is essential for preserving visual outcomes due to the variable presentation of these syndromes.
Purpose of the Study:
- To provide a comprehensive literature review of nine major phakomatoses.
- To outline syndrome-specific screening guidelines for early detection of ocular pathology.
- To promote multidisciplinary care for improved patient outcomes.
Main Methods:
- Comprehensive literature review of nine major phakomatoses.
- Analysis of common vision-threatening manifestations across these syndromes.
- Synthesis of syndrome-specific screening guidelines.
Main Results:
- Identified common vision-threatening manifestations such as glaucoma, optic pathway gliomas, and retinal hamartomas.
- Highlighted variability in the age of onset and disease progression of ocular conditions.
- Emphasized the importance of early detection and multidisciplinary management.
Conclusions:
- Establishing syndrome-specific screening guidelines can facilitate early detection of ocular pathology.
- Multidisciplinary collaboration among ophthalmologists, pediatricians, and other providers is vital.
- Proactive management can decrease visual morbidities and improve overall patient outcomes in phakomatoses.
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