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Benign retinal pigmentary changes with sensorineural deafness

Poster Details

First Author: S.Mahmood UK

Co Author(s):    J. de Zaeytijd   M. Michaelides   A. Moore            0   0 0   0 0   0 0   0 0

Abstract Details


Purpose: To describe a novel sign which might help in the clinical diagnosis of rubella retinopathy.


Setting: Retrospective non comparative case series


Method: Seven patients with congenital sensorineural deafness but no other significant medical history were referred for ophthalmic assessment and found to have a pigmentary retinopathy. One patient’s mother had been diagnosed with rubella during pregnancy. All patients had audiometry, ophthalmic examination, fundus photography, fundus autofluorescence, optical coherence tomography, and full-field electroretinogram (ERG).


Results: Six patients were females and one male, with a mean age of 26 years (SD ±13, range 9-35). Three were Caucasian and 2 were of Asian ethnicity. All had normal visual acuity (6/5-6/9); except one eye with 6/60 due to development of choroidal neovascular membrane. Two patients had bilateral cataracts. Fundus examination and photography revealed partial or complete peripapillary pigmentation in all patients. A stippled pattern of autofluorescence was observed. All patients had a normal full field electroretinogram. All patients had profound sensorineural deafness. No other systemic abnormalities were detected. All patients continued to be asymptomatic and no changes were noted on subsequent visits.


Conclusion: Intrauterine rubella infection may cause a pigmentary retinopathy and hearing loss without other signs of rubella embryopathy. The retinal changes have a characteristic appearance on fundus imaging and we describe a new finding of peripapillary pigmentation which may aid diagnosis. The reduced uptake of MMR vaccination in the UK may lead to an increase in cases of congenital rubella syndrome and it is important that ophthalmologist s can recognise the retinal phenotype.

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