Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation.
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.
Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.|Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota.|Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota.
Mary Ella
http://orcid.org/0000-0002-9943-5236
ME
Pierpont
Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.
Mary
M
Richards
Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota.|Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota.
W Keith
WK
Engel
Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.|Genomic Medicine, Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota.
Nancy J
NJ
Mendelsohn
Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.|Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota.
C Gail
CG
Summers
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D000328:Adult; D002648:Child; D056685:Costello Syndrome / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D005838:Genotype; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D010641:Phenotype; D000090063:Proto-Oncogene Mas; D016283:Proto-Oncogene Proteins p21(ras) / Q000235:genetics*; D058499:Retinal Dystrophies / Q000150:complications / Q000235:genetics* / Q000503:physiopathology
C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; C501009:HRAS protein, human; D016283:Proto-Oncogene Proteins p21(ras)
Costello syndrome; HRAS mutation; Retinal Dystrophy