Williams syndrome with ocular discomfort and hypermetropia: Unveiling the multifaceted clinical presentation

INTRODUCTION

Williams syndrome, also known as Williams–Beuren syndrome, is a rare genetic condition caused by a deletion of a small segment of chromosome 7.^[1] It is characterized by distinct facial features such as a broad forehead, full cheeks, and a small chin (Elfin facies), along with developmental delays, cognitive challenges, and cardiovascular issues like supravalvular aortic stenosis with specific behavioral traits such as sociability and a strong affinity for music.

DISCUSSION

A 7-year-old female patient with a known diagnosis of Williams syndrome (genetic analysis showing a 1.32 Mb size microdeletion in the q arm of chromosome 7 at band 7q11.23) presented to the Paediatric Ophthalmology clinic with a chief complaint of localized pain in the right eye lasting 4 months. The pain was described as intermittent, gradual in onset, non-progressive, and not associated with visible signs of redness or swelling. The patient did not report any aggravating or relieving factors, and the pain did not radiate.

The child’s mother conceived spontaneously in a non-consanguineous marriage. Detailed developmental history indicated delays in reaching milestones, although the patient is currently performing at an average academic level. The child demonstrated strong verbal and communication skills, which are often seen in individuals with Williams syndrome.

On examination, the child appeared well-oriented and moderately nourished for her age.

Distinct facial features typical of Williams syndrome noted were puffiness around the periorbital area, prominent large upper central incisors, slightly anteverted nares, thickened lower lip and pendulous cheeks. Vital signs were within normal limits.

A comprehensive ocular assessment was performed showing best corrected visual acuity 6/6, N6 (hypermetropia) in both eyes, normal extraocular movements with no signs of strabismus. Anterior segment examination revealed no abnormalities on the slit lamp examination. Posterior segment examination showed healthy ocular structures on indirect ophthalmoscopy despite the reported discomfort in the eye.

Williams syndrome, a neurodevelopmental genetic condition caused by a deletion on chromosome 7, presents a unique combination of physical,^[1] cognitive, and behavioral characteristics along with cardiovascular issues like supravalvular aortic stenosis.^[3]

In this case, the 7-year-old female patient exhibited typical features of Williams syndrome, including distinct facial characteristics and developmental delays^[2] alongside her reported ocular discomfort.

The significance of regular ophthalmological assessments in patients with Williams syndrome cannot be overstated. Studies indicate that these individuals are at an increased risk for various ocular issues, such as strabismus, refractive errors, and other surface-related conditions.^[4] The current examination showed hypermetropia, which is a common feature in these children^[4], occurring in 67% patients reported with this syndrome. Potential non-ocular causes could include psychosomatic factors, which may be more prevalent in this population due to their cognitive profiles [Figure 1].

Close

Figure 1:

(a) Photograph of the patient elucidating the periorbital puffiness, broad forehead, large upper central incisors, small chin, constituting elfin facies in Williams Syndrome; (b) Other facial features like anteverted nares, pendulous cheeks in Williams syndrome; (c) Color fundus photograph of the right (R) and left (L) eye showing normal features.

Export to PPT

The patient’s developmental history is noteworthy, reflecting common challenges faced by children with Williams syndrome. While she has experienced delays in reaching developmental milestones, her current performance at an average academic level highlights her potential. Tailored educational strategies and supportive interventions will be essential in nurturing her strengths and addressing her unique needs. Parental involvement is crucial in this process, as families often play a pivotal role in implementing and reinforcing therapeutic strategies at home.

Furthermore, individuals with Williams syndrome are known to have associated health concerns, including cardiovascular and endocrine issues.^[4] Although this patient did not exhibit any immediate complications during her ocular assessment, other than refractive error management with glasses, ongoing monitoring for potential health changes is essential. This includes regular evaluations of her cardiovascular status, calcium levels, and developmental progress, ensuring a comprehensive care approach.

CONCLUSION

This case underscores the complexities of managing a patient with Williams syndrome, particularly regarding their ocular health and developmental needs. A multidisciplinary approach is vital to address the holistic needs of these patients, combining ophthalmological care with developmental support and family involvement. Continued awareness and research into the challenges faced by individuals with Williams syndrome will enhance the quality of care and outcomes for this unique patient population.