Title
SALT AND PEPPER RETINOPATHY IN CONGENITAL RUBELLA SYNDROME: CASE REPORT
Introduction
Congenital rubella syndrome (CRS) is a constellation of birth defects that include eye changes, cardiac malformations and deafness. The fetus is infected transplacentally during primary infection, especially in the presence of maternal exanthematic eruption. Ocular involvement in CRS is seen in about 75% of patients and its main manifestation is salt-and-pepper pigmentary retinopathy, which can be stationary or progressive.
Methods
Medical record review.
Results
A 35-years-old female patient presented with a history of deafness since birth, cardiac disease and renal structural changes. Her mother reported a condition compatible with rubella in the first trimester of pregnancy, with viral prodromes, followed by a typical cutaneous rash. Her best corrected visual acuity (BCVA) was 20/30 in the right eye and 20/25 in the left eye. Fundus examination revealed a classic salt-and-pepper appearance of the retina with mottling of the retinal pigmented epithelium (RPE). Fluorescein angiography demonstrated preserved filling time; diffuse areas of hyperfluorescence due to a window defect, suggestive of atrophy / sequelae of involvement of the retinal tissue; macular hiperfluorescence due to a window defect sparing the foveal region. Presence of discontinuity of photoreceptor layer being preserved only in the foveal region in OD. The patient is being currently monitored by specialists in ophthalmology, otolaryngology and cardiology.
Discussion
Rubella virus is believed to inhibit cell multiplication and establish a chronic and persistent infection during organogenesis, which leads to tissue damage. A salt-and-pepper retinopathy is commonly observed but does not have visual consequences, unless a CNV develops. Congenital cataracts and microphthalmia are the most frequent causes of visual impairment in these patients. The differential diagnosis of both salt-and-pepper retinopathy and hearing loss includes congenital syphilis and Usher syndrome.
Keywords
Salt and pepper retinopathy; congenital rubella syndrome.
Area
CLINICAL CASE
Authors
Andréia NOVELLI, Paulo Henrique Horizonte, Luciano Fuzzato, Lucas Holdack, Gabriella Marranghello Mingione, Fernanda Salata Antunes, Carolina Maria Barbosa Lemos, André Marcelo Vieira Gomes