KERATOCONUS PREVALENCE AND SEVERITY AMONG DOWN SYNDROME PATIENTS IN KARACHI: A PUBLIC HEALTH PERSPECTIVE

Abstract

Background

Keratoconus is a progressive ectatic corneal disorder characterized by corneal thinning, protrusion, irregular astigmatism, and progressive visual deterioration. Individuals with Down syndrome have been consistently reported to possess a substantially greater risk of developing keratoconus compared with the general population. The relationship is attributed to genetic susceptibility, altered corneal biomechanics, collagen abnormalities, ocular allergies, and chronic eye-rubbing behavior. Despite increasing international evidence, limited data are available from Pakistan regarding the burden of keratoconus among individuals with Down syndrome.

Objective

To examine the prevalence and severity of keratoconus among individuals with Down syndrome in Karachi and identify factors associated with delayed diagnosis, disease progression, and barriers to specialized ophthalmic care.

Methodology

A cross-sectional observational study was conducted among individuals with Down syndrome enrolled through the Karachi Down Syndrome Program (KDSP). Information was obtained through caregiver questionnaires, clinical assessments, ophthalmic screening, corneal topography, and pachymetry where available. Descriptive and thematic analyses were utilized to identify patterns of disease severity, risk factors, awareness levels, and healthcare access barriers.

Results

The study findings indicate that keratoconus occurs more frequently among individuals with Down syndrome than in the general population. Five major themes emerged: increased disease prevalence, earlier onset, greater disease severity, chronic eye-rubbing behavior, delayed diagnosis, and inadequate access to specialized ophthalmic services. Caregiver awareness regarding keratoconus was limited, contributing to delayed ophthalmic consultation and progression of disease severity.

Conclusion

Keratoconus represents a significant yet underrecognized ocular health challenge among individuals with Down syndrome in Karachi. Early screening, caregiver education, multidisciplinary collaboration, and improved access to advanced ophthalmic diagnostic services are necessary to reduce preventable visual impairment and improve quality of life.