Ocular Findings in the 16p11.2 Microdeletion Syndrome: A Case Report and Literature Review

Abstract

e recurrent 16p11.2 microdeletion is characterized by developmental delays and a wide spectrum of congenital anomalies. It has been well reported that individuals with this ∼593-kb interstitial deletion have an increased susceptibility toward the autism spectrum disorder (ASD). Abnormalities of the eye and ocular adnexa are also commonly associated findings seen in individuals with the 16p11.2 microdeletion syndrome, although these ophthalmic manifestations have not been well characterized. We conducted an extensive literature review to highlight the eye features in patients with the 16p11.2 microdeletion syndrome and describe a 5-year-old boy with the syndrome. e boy initially presented with intellectual disability, speech delay, and defiant behavior; diagnoses of attention deficit hyperactivity disorder (ADHD) and oppositional defiant disorder (ODD) were established. He had a Chiari malformation type 1. His ophthalmic features included strabismus, hyperopia, and ptosis, and a posterior embryotoxon was present bilaterally. From a systematic review of prior reported cases, the most common eye and ocular adnexa findings observed were downslanting palpebral fissures, deep-set eyes, ptosis, and hypertelorism.

A Girl with PRRT2 Mutation Presenting with Benign Familial Infantile Seizures Followed by Autistic Regression

“…It has been concluded that PRRT2-related BFIS typically has a benign prognosis, often resolving with or without medication before the age of 2, and does not result in longterm neurological sequelae and neurodevelopmental delay [1,6,7]. While data have shown that both deletions and duplications at the 16p11.2 locus, which encompasses PRRT2, are associated with an increased risk for ASD [3,12], the connection between PRRT2 mutations and an elevated susceptibility to ASD remains controversial, as deleterious PRRT2 mutations were not found to be enriched in individuals with ASD [1,13]. Furthermore, less than 1% of individuals with PRRT2 heterozygous mutations have ID [1,4].…”

Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis

“…The associated phenotypic spectrum includes autism, mild intellectual disability/developmental delay, and/or possibly other primary psychiatric disorders, with nonspecific major or minor dysmorphisms [13]. Recently, ophthalmic manifestations, a highly penetrant form of obesity, recurrent infections, and extensive phenotypic variability, have also been reported in a literature review in association with this microdeletion syndrome [14]. At the age of 24, the patient was diagnosed with Stargardt maculopathy (OMIM#248200, prevalence: 1/8,000-10,000).…”

Clinical Implications of Chromosome 16 Copy Number Variation

“…Abnormalities of fingers and toes, such as clinodactyly and syndactyly, have also been observed. Further, 16p11.2 microdeletions are associated with dermatological changes, such as café au lait spots and sacral dimples [Bachmann-Gagescu et al, 2010;Steinman et al, 2016;Demopoulo et al, 2018;Shriberg et al, 2019;Stingl et al, 2020]. Genomic aberrations are clustered in regions corresponding to the major processes of craniofacial development (frontonasal, medial nasal, maxillary, and mandibular development).…”