Nystagmus in Down Syndrome - a Retrospective Notes Review

Area of Science:

• Ophthalmology
• Genetics
• Pediatrics

Background:

• Nystagmus affects up to 30% of individuals with Down Syndrome (DS), yet its clinical characteristics remain poorly understood.
• Accurate diagnosis of nystagmus subtypes is crucial for appropriate management and further investigation in DS patients.

Purpose of the Study:

• To characterize the clinical features of nystagmus in patients diagnosed with Down Syndrome (DS).
• To investigate the prevalence and types of nystagmus and associated ocular conditions in a DS cohort.

Main Methods:

• A retrospective review of medical records was conducted for patients with DS and nystagmus at Moorfields Eye Hospital over a ten-year period.
• Data collected included patient demographics, visual acuity, refractive error, ocular alignment, nystagmus type, and associated diagnoses.

Main Results:

• Fifty-one subjects with DS and nystagmus were identified; complete data was available for 48.
• The most frequent nystagmus diagnosis was 'presumed' Infantile Nystagmus Syndrome (INS). Ocular misalignment was present in 50% of patients.
• Associated conditions included cataract (nearly 25%) and other non-DS related diagnoses (10.4%).

Conclusions:

• The study underscores the diagnostic challenges in differentiating nystagmus subtypes, particularly Fusion Maldevelopment Nystagmus Syndrome (FMNS) and Infantile Nystagmus Syndrome (INS), in individuals with DS.
• Accurate clinical assessment and potentially eye movement recordings are important for identifying true INS and guiding further investigations.
• A significant proportion of DS patients with nystagmus present with comorbidities like cataract, necessitating comprehensive eye care.