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A rare case of type 3 usher syndrome with bilateral cystoid macular edema treated with topical dorzolamide

 Department of Ophthalmology, All India Institute of Medical Sciences (AIIMS), Rishikesh, Uttarakhand, India

Correspondence Address:
Ramanuj Samanta,
Department of Ophthalmology, All India Institute of Medical Sciences (AIIMS), Rishikesh, Uttarakhand - 249 203
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/tjo.tjo_6_20

A 30-year-old female presented with gradually progressive diminution of vision for 1 month, with night blindness for the past 5 years and difficulty in hearing for the past 10 years. Her developmental history and family history were unremarkable. Ocular examination revealed visual acuity of 6/36 in both eyes. Fundus showed features of retinitis pigmentosa with bilateral macular edema. Audiometry revealed bilateral sensorineural hearing loss; although, her vestibular functions were preserved. Clinical diagnosis of Usher syndrome type 3 was made based on normal hearing at birth, delayed presentation of progressive visual and auditory impairment with normal vestibular function, and developmental milestones. Her macular edema resolved after 3 months of treatment with topical dorzolamide therapy. The unique feature of this case is the presence of bilateral macular edema in type 3 Usher syndrome, which is rarely reported in literature.

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