Case Report: Novel Arylsulfatase A (ARSA) Gene Mutations in a Patient With Adult-Onset Metachromatic Leukodystrophy Misdiagnosed as Multiple Sclerosis

Metachromatic leukodystrophy (MLD) is an autosomal recessive hereditary disorder characterized by the accumulation of sulfatide in the central and peripheral nervous systems. Herein, we present the case of an adult patient with MLD who had mild cognitive and psychiatric dysfunctions and severe vision disturbance, who was initially misdiagnosed as multiple sclerosis. Through genetic screening, this patient was later identified to have a full deletion of exon 4 and the novel p.P220L mutation in the arylsulfatase A (ARSA) gene. These mutations are reported for the first time in MLD. These data will help to update the mutation profiles of patients with MLD.

ROLE OF PADABHYANGA IN TIMIRA W.S.R TO MYOPIA

Myopia the commonest refractive error includes a large section of present day population. myopia along with other refractive errors accounts for 7 % of the causes of blindness in India. It is highly significant problem. Myopia is dioptric condition of the eye in which incident parallel rays come to a focus anterior to the light sensitive part of the Retina. When accommodation is at rest. Myopia is the commonest eye defect affecting the young eyes and also called near or short sightedness[1]. Clinical factors related to vision disturbance are seeing in Drishtigatrogas and one among these roga is Timira . Blurred Vision is mentioned as symptom in 12 Drishtigat Vikaras. Timira is such an eye disease which starts from Avyaktya darshana and end in complete loss of vision. No separate etiological factors at the eye are to be considered for Timira . Acharya Sushruta has described Timira as Ghora roga . that produce visual disturbance due to accumulation of doshas in various patalas of the eye[2]. Due to changing life style and excessive use of computer, TV, mobile screen worsen visual acuity and produce various Netra Rogas and people use mostly modern medicine, but in Ayurveda with the help many therapies like padabhyanga . Padabhyanga is good for eye. Vagabhata identities 4 major nerves in the feet that connect to the eyes. These transmit the effect of the medicine applied over the feet in the form of massage [3] . Hence every person should need make use of padabhyanga . Major causes of blindness, for prevalence disease like Timira . Hence the study is made to explain effect of padábhyanga to increase and maintain the visual acuity.

Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy

Progressive cone and cone-rod dystrophies are a clinically and genetically heterogeneous group of inherited retinal diseases characterised by cone photoreceptor degeneration, which may be followed by subsequent rod photoreceptor loss. These disorders typically present with progressive loss of central vision, colour vision disturbance and photophobia. Considerable progress has been made in elucidating the molecular genetics and genotype–phenotype correlations associated with these dystrophies, with mutations in at least 30 genes implicated in this group of disorders. We discuss the genetics, and clinical, psychophysical, electrophysiological and retinal imaging characteristics of cone and cone-rod dystrophies, focusing particularly on four of the most common disease-associated genes: GUCA1A, PRPH2, ABCA4 and RPGR. Additionally, we briefly review the current management of these disorders and the prospects for novel therapies.

Median Filtering for Optic Disc Segmentation in Retinal Image

One of diabetic complications is vision disturbance known as Diabetic Retinopathy (DR). Early detection becomes vital to prevent the development of DR by routine examination of the patient's eyes. This study developed a software application that can automatically segment the image of the eye retina, expected to assist eye specialists in performing DR detection using computer aids. The system implementation uses Visual C# 2010 software with 36 retinal images of the Drishti-GS1 dataset. The clinical features of the retina that can be used to detect DR are microaneurysms, hard and soft exudates, hemorrhages, neovascularization, and macular edema. Optic Disc (OD) segmentation is an important step to detect these features. This study aimed to detect OD using red channel, inversion, contrast enhancement, median filtering, and thresholding. The final result of the OD segmentation was validated by measuring the positive predictive value (PPV). The result of PPV for the detection of OD to ground truth image reached 90.924%.