Clinical profile and demographic distribution of Stargardt disease phenotypes: An Electronic medical record-driven big data analytics from a multitier eye care network

• Published in: Indian journal of ophthalmology 2023-10, Vol.71 (10), p.3407-3411
• Main Authors: Das, Anthony, Venugopal, Ragukumar, Takkar, Brijesh, Sharma, Sumant, Balakrishnan, Neelima, Narayanan, Raja, Parameswarappa, Deepika, Padhy, Srikanta
• Format: Article
• Language: English
• Subjects: Big data; Cataracts; Consanguinity; Demography; Diabetes mellitus; Electronic health records; Electronic medical records; Electronic records; Eye; Eye diseases; Health aspects; Hospital patients; india; Medical records; Medical research; Medicine, Experimental; Ophthalmology; Original; Patients; Phenotypes; Retina; stargardt disease; Visual impairment
• ISSN: 0301-4738; 1998-3689
• DOI: 10.4103/IJO.IJO_3290_22

Purpose: To describe the demographics and clinical profile of Stargardt disease in patients presenting a multitier ophthalmology hospital network in India. Methods: This cross-sectional hospital-based study was performed among 2,834,616 new patients presenting between August 2010 and June 2021 in our network. Patients with a clinical diagnosis of Stargardt disease in at least one eye were included as cases. The data were collected using an electronic medical record system. Results: Overall, 1,934 (0.069%) patients were diagnosed with Stargardt disease. Most of the patients were male (63.14%). The most common age group at presentation was during the second decade of life, with 626 (31.87%) patients. The overall prevalence was higher in patients from a higher socioeconomic status (0.077%), in those presenting from the urban geography (0.079%), and in students (0.197%). Systemic history of hypertension was seen in 56 (2.85%) patients, while diabetes mellitus was seen in (2.49%) patients. Of the 3,917 eyes, 1,910 (48.76%) eyes had moderate visual impairment (>20/70-20/200) followed by severe visual impairment (>20/200 to 20/400) in 646 (16.49%) eyes. The most commonly associated retinal signs were retinal flecks in 1,260 (32.17%) eyes, followed by RPE changes in 945 (24.13%) eyes. The most documented investigations were autofluorescence (39.85%), followed by optical coherence tomography (23.90). Cataract surgery was the commonest performed surgical intervention in (0.66%) eyes, followed by intravitreal injection in 4 (0.10%) eyes. The family history of parent consanguinity marriage was reported by 212 (10.79%) patients. Conclusion: Stargardt disease was seen more commonly in males presenting during the second decade of life. It is predominantly a bilateral disease, with the majority of the eyes having moderate visual impairment.