Usher Syndrome Case Study

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Usher syndrome is a rare heterogenous autosomal recessive genetic disorder with features of visual impairment due to retinitis pigmentosa and hearing loss. Other names for Usher syndrome include Hallgren syndrome, Usher-Hallgren syndrome, retinitis pigmentosa-dysacusis syndrome, and dystrophia retinae dysacusis syndrome [1,2] Usher syndrome represents a genetically diverse condition that involves both early-onset sensorineural hearing loss and retinal pathology. While reports of disease prevalence vary, the condition has been estimated to occur in three in 100, 000 individuals.[3] CASE REPORT: A 34 year old female presented to Ophthalmology outpatient department with complaints of diminished vision in both eyes more at night since 15 years. Diminution of vision was insidious in onset, gradually progressive and painless. There was no history of use of spectacles or hearing aids. No history of difficulty in walking. She was born out of a non consanginous marriage. On examination Anterior segment of both eyes was found to be within normal limits; Pupils of both eyes were 3mm in size, Round, regular…show more content…
However, Albrecht von Gräfe, a pioneer of modern ophthalmology described the disease.[4,5] Three years later, one of his students, Richard Liebreich, examined the population of Berlin for disease pattern of deafness with retinitis pigmentosa. Liebreich noted Usher syndrome to be recessive, since the cases of blind-deafness combinations occurred particularly in the siblings of blood-related marriages or in families with patients in different generations. His observations supplied the first proofs for the coupled transmission of blindness and deafness, since no isolated cases of either could be found in the family trees. [6,7. Classification
Usher’s syndrome can be divided in to three major groups; Type 1, Type 2, Type

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