Genetics evaluations improve risk prediction in retinoblastoma patients

Article

Incorporating genetics into the treatment plan of retinoblastoma patients improves risk prediction and ensures accurate evaluations.

Incorporating genetics into the treatment plan of retinoblastoma patients improves risk prediction and ensures accurate evaluations, claims a study in the Archives of Ophthalmology.

Dr Shweta U. Dhar et al., Department of Ophthalmology, The Methodist Hospital, Houston, Texas, USA, conducted a retrospective study on 90 retinoblastoma patient evaluations performed over 8 years. A multidisciplinary team was created from an ophthalmologist, paediatric oncologists, an ophthalmic pathologist, a geneticist and genetics counsellors.

Of the patients evaluated, 81 probands were discovered, including 34 bilateral and 47 unilateral. Nine of the total patients were assessed due to a positive family history of retinoblastoma.

In 51 out of 81 bilateral and unilateral patients genetic testing was successfully completed. An RB1 mutation was found in the peripheral blood samples of 5 out of 30 patients with unilateral disease. Sporadic retinoblastoma was identified in 7 out of 30 patients undergoing mutation analysis.

Genetic testing revealed that, out of 48 patient family members from 21 families, 42 tested negative for familial mutation and 6 tested positive. The results emphasized the value of genetic evaluation in the management plan for retinoblastoma patients.

Recent Videos
Dr Rick Lewis discusses the FLigHT procedure and ViaLase laser at the 2024 European Society of Cataract and Refractive Surgeons (ESCRS) meeting
Christiana Dinah speaks about her ASRS presentation, Real-World Treatment Outcomes With Anti-VEGF Therapy in Patients With Retinal Vein Occlusion in the UK
Chase Ludwig, MD, shared an overview of his presentation, which covered real-impact of vitrectomy surgery on the progression of AMD at the annual ASRS meeting in Stockholm, Sweden
Patrick C. Staropoli, MD, discusses clinical characterisation of Hexokinase 1 (HK1) mutations causing autosomal dominant pericentral retinitis pigmentosa
Richard B. Rosen, MD, discusses his ASRS presentation on illuminating subclinical sickle cell activities using dynamic OCT angiography
ASRS 2024: Socioeconomic barriers and visual outcomes in patients with rhegmatogenous retinal detachments, from Sally S. Ong, MD
Ashkan Abbey, MD, speaks about his presentation on the the CALM registry study, the 36-month outcomes of real world patients receiving fluocinolone acetonide 0.18 mg at the annual ASRS meeting in Stockholm, Sweden.
Nikoloz Labauri, MD, FVRS, speaks at the 2024 ASRS meeting about suspensory macular buckling as a novel technique for addressing myopic traction maculopathy
Jordana Fein, MD, MS, speaks with Modern Retina about the IOP outcomes with aflibercept 8 mg and 2 mg in patients with DME through week 48 of the phase 2/3 PHOTON trial at the annual ASRS meeting in Stockholm, Sweden.
© 2024 MJH Life Sciences

All rights reserved.