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Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation
Mary Ella Pierpont1,2,3, Mary Richards1, W Keith Engel2,3
1Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.
Insights
Costello syndrome, a genetic disorder, can cause vision problems like nystagmus and retinal dystrophy. Early eye exams are crucial for children diagnosed with this condition to detect and manage visual abnormalities.
Area of Science:
- Genetics and Molecular Biology
- Ophthalmology
- Pediatric Medicine
Background:
- Costello syndrome is a rare genetic disorder caused by HRAS proto-oncogene mutations within the RAS/MAPK pathway.
- It presents with systemic features including failure-to-thrive, developmental delays, and increased cancer risk.
Observation:
- This study details the ophthalmologic findings in two unrelated boys diagnosed with Costello syndrome and a specific HRAS mutation (p.Gly13Cys).
- Both patients exhibited early-onset nystagmus, photophobia, and vision abnormalities.
Findings:
- Fundus examinations revealed retinal dystrophy by age 3 in both boys.
- Electroretinograms demonstrated abnormal rod and cone responses, consistent with rod-cone dystrophy.
Implications:
- These findings highlight the significant ocular manifestations of Costello syndrome.
- Routine, early, and ongoing ophthalmologic evaluations are recommended for children with Costello syndrome to monitor and address visual health.
Abstract:
Features of Costello Syndrome, a systemic disorder caused by germline mutations in the proto-oncogene HRAS from the RAS/MAPK pathway, include failure-to-thrive, short stature, coarse facial features, cardiac defects including hypertrophic cardiomyopathy, intellectual disability, and predisposition to neoplasia. Two unrelated boys with Costello syndrome and an HRAS mutation (p.Gly13Cys) are presented with their ophthalmologic findings. Both had early symptoms of nystagmus, photophobia, and vision abnormalities. Fundus examination findings of retinal dystrophy were present at age 3 years. Both boys have abnormal electroretinograms with reduced or undetectable rod responses along with reduced cone responses consistent with rod-cone dystrophy. Our observations suggest that early ophthalmic examination and re-evaluations are indicated in children with Costello syndrome.
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