Abstract
Purpose :
Retinoblastoma (Rb) mostly results from a mutation in the Rb1 gene on the long arm of chromosome 13 (Ch. 13q14). About 5-10% of cases are due to gross-sized molecular deletions in Ch.13q termed 13q deletion syndrome. The deletions can involve the surrounding genes delineating a contiguous gene syndrome characterized by RB, developmental anomalies, and peculiar facial dysmorphisms. There have also been reports of certain MRI structural brain abnormalities found in these patients. Other than a single brief case report of a patient with a 13q deletion sporadic Rb and autism spectrum disorder (ASD), we found no other reports linking these conditions, except for a molecular link of an interaction between the retinoblastoma protein and the lysine demethylase 5A (KDM5A) gene, also called the ASD gene which lies in chromosome 12. Here, we describe a series of retinoblastoma patients with ASD or psychomotor delay.
Methods :
A retrospective review of the medical records of children treated for retinoblastoma at the Hadassah Ocular Oncology Unit.
Results :
From 1994 to 2021, we treated 300 children with retinoblastoma. Ten boys were diagnosed with psychomotor disabilities: two are high-functioning autistics whose germline Rb1 status is unknown, one has a 13q deletion with ASD, one with a 13q and mental retardation, five with 13q deletion and severe psychomotor delay, and one with a somatic N-Myc amplification and ASD. In addition, we diagnosed one girl with a 13q deletion and retinocytoma in one eye that remained unchanged in 8 years of follow-up. Overall, we found five children with ASD and six with psychomotor delay.
Conclusions :
Visual disturbances may hinder the diagnosis of ASD as a reason for failing to form eye contact. However, retinoblastoma may present with ASD and with more severe psychomotor delays, mostly in patients with a 13q deletion. A multi-disciplinary retinoblastoma team should be aware of this possibility and be ready with diagnostic and support plans for these conditions.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.