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Retinal vascular nonperfusion in siblings with Dandy-Walker variant
Irene Rusu1, Mrinali Patel Gupta1, Samir N Patel1
1Department of Ophthalmology, Weill Cornell Medical College, New York, New York.
Summary
Children with Dandy-Walker variant may experience severe vision problems, including pathologic myopia and retinal ischemia. Early ophthalmologic exams are recommended for this population.
Area of Science:
- Ophthalmology
- Genetics
- Neurology
Background:
- Dandy-Walker variant is a congenital brain malformation.
- Ocular manifestations in Dandy-Walker variant are not well-documented.
Observation:
- A 2-month-old girl with Dandy-Walker variant presented with strabismus and severe myopia (-16.00 D).
- She also had chorioretinal atrophy, pigment mottling, and retinal capillary nonperfusion.
- Her brother, also diagnosed with Dandy-Walker variant, exhibited severe myopia and various retinal abnormalities.
Findings:
- The study highlights a potential association between Dandy-Walker variant and significant refractive errors like pathologic myopia.
- Diverse retinal findings, including signs of retinal ischemia, were observed in affected siblings.
- These findings suggest a possible genetic link or shared pathophysiology.
Implications:
- Children with Dandy-Walker variant may be at increased risk for developing pathologic myopia and other ocular complications.
- Routine and thorough ophthalmologic examinations should be considered for early detection and management in this patient group.
- Further research is warranted to elucidate the underlying mechanisms connecting Dandy-Walker variant and ocular pathologies.
