Dr. Priyanka Raj, R17968, Dr. Asif Shahnawaz, Dr. Shalini
Purpose: To report a case of Usher Syndrome
Method: A 14 year old boy presented with complaints of gradual diminution of vision in night & hearing loss for two years with mental retardation since birth, no relevant family history was present
Ocular examination: BCVA: OU: 20/40p;N6. Anterior segment examination of both eyes were within normal limits. Indirect ophthalmoscopy of both eyes revealed clear media with generalized pallor of optic disc, attenuated vessels with perivascular sheathing and bony spicules in mid peripheral fundus. Mild mottling was present over macula. Perimetry revealed depressed peripheral visual fields. ERG could not be done due to unavailability of the same.
Audiometry: b/l moderate to severe sensorineural hearing loss. NCCT Brain was normal
Results:Diagnosis of Usher syndrome was made
Conclusion:Diagnosing a case of a rare entity at an early age, which is not treatable can help to make the patient aware of visual rehabilitation which can make his life easier.