Take the Retina Quiz
1. How would you describe the fundus findings?
a. Tigroid fundus.
b. Salt and pepper retinopathy.
c. Bone spicule formation.
d. Choroidal folds.

2. What is the likely diagnosis?
a. Retinitis pigmentosa.
b. Congenital rubella retinopathy.
c. Syphilis retinopathy.
d. Ocular albinism.

3. What is the likely etiology?
a. Autoimmune.
b. Virus.
c. Trauma.
d. Bacterial.

4. What additional testing would be most beneficial?
a. Ocular coherence tomography.
b. Electroretinogram.
c. B-scan ultrasonography.
d. Pachymetry.

5. What do the changes around the optic nerve likely represent?
a. Peripapillary atrophy.
b. Myopic crescent.
c. Angioid streaks.
d. Nonspecific changes to the retinal pigment epithelium.

For answers, see bottom of page.

Discussion
The mothers history of German measles during her pregnancy is evidence that this patient has congenital rubella pigmentary retinopathy.

Rubella infection affects children and young adults but often goes undetected. It results from an RNA virus of the Togaviridae family.

The systemic and ocular complications that manifest with rubella infection in utero are called congenital rubella syndrome (CRS).¹ CRS results from primary maternal infection of rubella during the first trimester of the pregnancy. The fetus is most vulnerable to rubella insult in the first 16 weeks of gestation because specific immunity against the virus is undeveloped during the first two trimesters of pregnancy. The virus transplacentally infects the developing fetus and is disseminated in the bloodstream, inhibiting cell growth.

The World Health Organization encourages member countries to eradicate CRS by 2010.¹ New CRS cases have been rare since the introduction of the measles-mumps-rubella (MMR) vaccine in 1969.² The Centers for Disease Control and Prevention recommends vaccinations at age 12 to 15 months and again at age 4 to 6.³

CRS can lead to multisystemic malformations, resulting in severe morbidity and mortality. Malformations most associated with CRS are auditory (sensorineural deafness), cardiac (patent ductus arteriosus) and neurologic (microcephaly and mental retardation).

CRS also can affect almost all ocular structures. CRS can be diagnosed in the presence of these three common signs, either in isolation or in combination, even with a lack of laboratory evidence:^2,4

Congenital cataracts (also known as rubella cataracts). These usually present as dense, symmetrical and bilateral cataracts. The virus enters the lens prior to development of a lens capsule that would otherwise act as a barrier to the virus. Rubella cataracts most commonly occur at the fetal nuclear level. 

Pigmentary retinopathy. A diffuse disturbance of the retinal pigment epithelium (RPE) often has a salt-and-pepper appearance. Pigment deposits may vary from fine, powdery, sprinkled or granular shapes throughout the retina. Persistence of the virus in the RPE often causes progression during childhood. This can lead to subretinal neovascularization and subsequent macular scarring, usually in the second decade of life. 

Congenital glaucoma with buphthalmos. This can occur in approximately 10% of infants diagnosed with CRS.³ Glaucoma also can manifest at a later stage in these patients, possibly due to virus-induced trabeculodysgenesis. Delayed-onset glaucoma is more commonly associated with microphthalmos. These patients have a poor visual prognosis.

Less common ocular complications of CRS include iris atrophy, uveal coloboma, nystagmus, strabismus, corneal haze, optic atrophy and high refractive error.

Ancillary testing for patients with CRS may include optical coherence tomography and fluorescein angiography when there is a high suspicion of choroidal neovascularization, visual field exam as part of a standard glaucoma assessment, and electroretinogram (ERG) to aid in the differential diagnosis of CRS and retinitis pigmentosa (RP), which is similar in appearance. ERG is normal in patients who have CRS but abnormal in those who have RP. Our patients ERG was normal.

The severity of ocular complications of CRS varies among patients. Our patient only presented with bilateral pigmentary retinopathy. Small angioid streaks were present around the optic nerve, but we believe these were an incidental finding.

Pigmentary retinopathy is common among congenital infections, such as cytomegalovirus, toxoplasmosis and syphilitic retinopathy. Thus, the diagnosis of CRS requires a positive serological finding or history of maternal measles infection, as in our patient. Our patient also presented with congenital cardiac deficits, one of the systemic complications associated with CRS.

We must closely monitor patients who have CRS for the development of glaucoma. Our patient currently has no risk factors for glaucoma. We plan to monitor her annually. We do not know why she experienced dizziness, but we told her to see her primary-care doctor if her symptoms continue.

Written by Neha Patel, O.D., an optometry resident at Bascom Palmer Eye Institute in Miami.

1. Khandekar R, Al Awaidy S, Ganesh A, Bawikar S. An epidemiological and clinical study of ocular manifestations of congenital rubella syndrome in Omani children. Arch Ophthalmol 2004 Apr;122(4):541-5.
2. Weisinger HS, Pesudovs K. Optical complications in congenital rubella syndrome. Optometry 2002 Jul;73(7):418-24.
3. Watson JC, Hadler SC, Dykewicz CA, et al. Measles, mumps, and rubellavaccine use and strategies for elimination of measles, rubella, and congenital rubella syndrome and control of mumps: recommendations of the Advisory Committee on Immunization Practices (ACIP). MMWR Recomm Rep 1998 May 22;47(RR-8):1-57.
4. Vijayalakshmi P, Kakkar G, Samprathi A, Banushree R. Ocular manifestations of congenital rubella syndrome in a developing country. Indian J Ophthalmol 2002 Dec;50(4):307-11.

Answers: 1) b; 2) b; 3) b; 4) b; 5) c.