Avisha Mathur

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A Study of Risk Factors for Climatic Droplet Keratopathy in Elderly Persons from Western Rajasthan
Climatic Droplet Keratopathy is an acquired degeneration of cornea. It is characterised by the deposition of amber coloured oily spherules at and around the Bowman's membrane of the cornea. The…
A Study of Retinal Nerve Fiber Layer Thickness by using Spectral Domain Optical Coherence Tomography in Older Adults with Diabetes Mellitus
TLDR
The RNFL thinning is an early neurodegenerative ocular change in diabetic patients even before onset of diabetic retinopathy, and tended to become thinner as the patient develops DR in elderly subjects.
Causes of Ocular Trauma in Patients Presenting at a Tertiary Care Center of Rajasthan
A RARE CASE OF SANFILIPPO SYNDROME TYPE “C”
TLDR
A case of an 8-year-old female child who presented with mild intellectual disability, sleep deprivation, and hyperactivity and was diagnosed with Sanfilippo syndrome type C.
ENCEPHALOPATHY DUE TO MUTATION IN MITOCHONDRIAL FISSION FACTOR GENE
A STUDY OF ANATOMICAL CAUSES OF BLINDNESS IN CHILDREN FROM WESTERN RAJASTHAN
MUTATION SPECTRUM OF DUCHENNE MUSCULAR DYSTROPHY PATIENTS IN INDIAN POPULATION
TLDR
Most of the DMD patients presented with deletions or duplications in the dystrophin gene, and remaining due to point mutation are shown, showing that most of the mutations occur due to deletions in DMD gene at distal hotspot 45–52 exons and deletions at proximal hotspot 10–19 exons.