Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation. Issue 5 (23rd March 2017)

• Record Type: Journal Article
• Authors: Pierpont, Mary Ella; Richards, Mary; Engel, W. Keith; Mendelsohn, Nancy J.; Summers, C. Gail
• Is Part Of: American journal of medical genetics. Volume 173:Issue 5(2017)
• Page Start: 1342
• Page End: 1347
• Publication Date: 2017-03-23
• Subjects: Costello syndrome -- HRAS mutation -- Retinal Dystrophy; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.38110
• Languages: English
• ISSNs: 1552-4825

Abstract

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.