BIOCHEMICAL BASIS OF GENETIC DISORDERS: DIAGNOSTIC AND THERAPEUTIC INSIGHTS WITH OCULAR AND HISTOPATHOLOGICAL PERSPECTIVES.
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Keywords
Inherited Metabolic Disorders, Ocular Histopathology, Biochemical Markers
Abstract
Genetic disorders often manifest with ocular abnormalities, yet the biochemical underpinnings linking metabolic dysfunction to histopathological changes in the eye remain inadequately characterized. This study aimed to elucidate the biochemical and histopathological correlates of inherited metabolic disorders (IMDs) presenting with ocular manifestations. A cohort of 120 patients with clinically diagnosed IMDs and ocular symptoms underwent comprehensive biochemical profiling, imaging, and histopathological examination of ocular tissues. Significant elevations in lysosomal enzyme activities were observed in patients with mucopolysaccharidoses (p<0.001), correlating with corneal clouding and retinal degeneration. Histopathological analysis revealed glycosaminoglycan accumulation in the corneal stroma and retinal pigment epithelium disruption. Patients with peroxisomal disorders exhibited elevated very-long-chain fatty acids (p<0.01), associated with optic nerve atrophy and retinal dystrophy. These findings underscore the direct impact of metabolic derangements on ocular structures. The study introduces novel correlations between specific biochemical markers and ocular histopathology, providing insights into targeted diagnostic and therapeutic strategies. The statistically significant associations between metabolic profiles and ocular pathology highlight the necessity for integrated biochemical and ophthalmologic assessments in managing genetic disorders. This research fills a critical gap by linking metabolic dysfunctions to specific ocular histopathological changes, paving the way for precision medicine approaches in ophthalmogenetics.
References
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Fatima Razzaq
Phd, Biochemistry Scholar, The University of Lahore
Rashida Naseem
PhD Scholar The University of Lahore
Amir Jalal
Assistant Professor, Department of Biochemistry, Sahara Medical College
Muhammad Saeed
Associate Professor, Biochemistry Department, Bolan Medical College Quetta
Maria Jawed
Assistant Professor, Pathology Department, Suleiman Roshan Medical College
Muhammad Imran Ali
MCPS, FCPS, MRCS (Ophth)(Glasg), Consultant and HOD, Dept of Ophthalmology, King Khalid Hospital, Almajmaah, Saudi Arabia
Farah Naz Tahir
MBBS, MPhil, PhD, Associate Professor of Biochemistry, Central Park Medical College, Lahore, Pakistan