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Unilateral retinocytoma associated with a variant in the RB1 gene
- Source :
- Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020), Molecular Genetics & Genomic Medicine
- Publication Year :
- 2020
- Publisher :
- Wiley, 2020.
-
Abstract
- Background Retinocytoma is a rare benign retinal tumor associated with variants in the RB1 gene. Ophthalmoscopic features can include a translucent retinal mass, calcification, retinal pigment epithelial alteration and chorioretinal atrophy. Methods Detailed ophthalmological examinations were performed in a Chinese patient with retinocytoma and his daughter with bilateral retinoblastoma. Sanger sequencing was performed to detect RB1 genetic variants in the patient, his daughter and tumor tissue from his daughter. Results A 33‐year‐old man presented with poor vision and strabismus in the right eye since childhood. Fundus examination revealed a round yellow‐white lesion stretching from the nasal side of the optic disc to the temporal periphery of the right eye. Sequencing result identified a reported variant (c.658C>G, p.Leu220Val) in the RB1 gene (NM_000321.2) of DNA extracted from peripheral blood of the patient and his daughter. The missense variant was also found in the tumor tissue from his daughter. Conclusions We report detailed clinical features and genetic analysis of a case with unilateral retinocytoma. Retinocytoma has a wide range of clinical phenotypes; genetic testing is therefore a useful tool for the diagnosis of atypical cases.<br />Retinocytoma is a rare benign retinal tumor associated with variants in the RB1 gene. Retinocytoma has a wide‐range of clinical phenotypes; genetic testing is therefore a useful tool for the diagnosis of atypical cases.
- Subjects :
- 0301 basic medicine
Adult
Male
Pathology
medicine.medical_specialty
lcsh:QH426-470
media_common.quotation_subject
Retinal Neoplasms
Ubiquitin-Protein Ligases
Mutation, Missense
030105 genetics & heredity
Fundus (eye)
retinoblastoma
03 medical and health sciences
symbols.namesake
chemistry.chemical_compound
retinocytoma
Genetics
Medicine
Missense mutation
Humans
Molecular Biology
Genetics (clinical)
Genetic testing
media_common
Sanger sequencing
RB1 gene
Daughter
Clinical Report
medicine.diagnostic_test
business.industry
Retinoblastoma
Infant
Retinal
medicine.disease
eye diseases
Pedigree
Retinoblastoma Binding Proteins
lcsh:Genetics
030104 developmental biology
medicine.anatomical_structure
Phenotype
chemistry
symbols
Female
business
Optic disc
Subjects
Details
- Language :
- English
- ISSN :
- 23249269
- Volume :
- 8
- Issue :
- 4
- Database :
- OpenAIRE
- Journal :
- Molecular Genetics & Genomic Medicine
- Accession number :
- edsair.doi.dedup.....82c6586692b4edd85b8ef9419fe15d54