Download Hadassa Rutman

Name: Hadassa Rutman O.D.
School: State University of New York College of Optometry
Residency: Vision Therapy and Rehabilitation
Case Report: Is Rubella Responsible for these retinal findings?
ABSTRACT:
This case report discusses Rubella Retinopathy, Usher’s Syndrome and Vitteliform
Dystrophy as differentials for examination findings in a pediatric patient. Pathogenesis,
signs/symptoms, ocular involvement, and treatment/management options will be
discussed for each of these conditions.
I. CASE HISTORY:
A 13-year-old Black Female presented with a chief complaint of distance vision
blur. She reported that the onset was a few months ago when she stopped wearing her
glasses. Her medical history was significant for an infection in utero with subsequent
hospitalization for 1.5 months and treatment after birth. The patient was not premature,
however, she was born weighing 4 pounds 5 oz. Her mother could not recall the name of
the infection nor the type of treatment she was receiving at the time. The patient was
hearing impaired since birth; full hearing loss in the right ear, and partial hearing loss in
the left ear. She also had a possible heart condition, and was being followed for this as
per her mother, although she could not recall the date of her last medical examination.
The patient was allergic to pollen, and was not taking any medications.
The patient’s last eye exam was in 2001. The examination revealed scattered RPE
clumping throughout the posterior pole with a small macular scar O.D. The patient was
booked for further testing, but did not return for follow-up care.
On examination, entering uncorrected visual acuities were 20/100+ OD and 20/100+ OS.
Extraocular motilities were full and smooth. Confrontation visual fields were full OD/OS.
Best corrected visual acuities were measured to be 20/30+ OD/OS through a refraction of
OD -1.00 –1.00 x 030 and OS -1.75 –0.75 x 135.
Anterior segment was significant for a PPM OS, bilateral anterior cortical lens pigment,
and a hyaloid remnant on the posterior lens OD. Angles were open OU and IOPs
measured 18mmHg OD and 18mmHg OS.
A dilated fundus examination (Figure 1, Figure 2) showed healthy C:Ds in both eyes of
0.25 horizontal and vertical. The posterior pole of both eyes revealed similar appearances
of RPE mottling, giving the fundus a “salt and pepper” appearance. This mottling
extending into the periphery 360 degrees, with diffuse punctate white spots and RPE
clumping. The arterial-venous ratio was 2:3, the vessels appeared to be of normal caliber
with questionable sheathing around the vessels.
The macula OD revealed pigment mottling with an overlying elevated fibrotic scar ~1DD
in size. The macula OS revealed extensive RPE mottling, extending parafoveally both
nasally and temporally
II. DIFFERENTIAL DIAGNOSES:
Due to the significant medical history and examination findings, a list of differential
diagnoses had to be considered, and further diagnostic testing had to be performed to rule
out these differentials.
1. Rubella Retinopathy:
a. Rubella
 Rubivirus (RNA virus), a subset of the togavirus family
 Acquired through the respiratory tract
 Virus replicates in epithelium and lymph nodes, spreading to other tissues
 Rash manifests ~2 weeks after initial exposure
 Signs and symptoms includes a low grade fever, sore throat, lymphadenopathy,
arthralgia, and rashes including a maculopapular rash on face lasting from 12 hrs to 5
days
 Complications include encephalopathy, orchitis, neuritis, and panencephalitis
 b. Congenital Rubella
 Fetal exposure results in more severe complications than adult exposure, with the
highest risk in the first trimester of pregnancy
 Signs and symptoms of congenital rubella include hearing loss, congenital heart
defects, neurological defects, intrauterine growth retardation, thrombocytopenia,
hepatomegaly, and splenomegaly
 c. Ocular Involvement
 Ocular complications include cataracts, glaucoma, optic atrophy, microphthalmia and
retinopathy
 Retinopathy consists of diffuse salt and pepper pigmentary retinal appearance,
pigment clumps, or bone spicules that may simulate RP. Vessels are usually of
normal caliber1
 Visual Acuity may be decreased to 20/50, or unaffected
 Condition is typically non-progressive
 * Studies have reported choroidal neovascularization of the macula in rubella
retinopathy234
 ERG is normal
 d. Lab Testing
 ERG testing to differentiate from RP
 Antirubella Antibody titer (elevated in rubella patients)
1
Alexander, LJ. Primary Care of the Posterior Segment. Spain: McGraw-Hill Companies; 2002
Hirano K, Tanikawa A, Miyake Y. Neovascular maculopathy associated with rubella retinopathy. Nippon
Ganka Gakkai Zasshi. 2000 June; 104(6): 431-6
3
Orth DH, Fishman GA, Segall M, Bhatt A, Yassur Y. Rubella Maculopathy. Br J Ophthalmology, 1980
Mar; 64(3): 201-5
4
Slusher MM, Tyler ME. Rubella retinopathy and subretinal neovascularization. Ann Ophthalmology, 1982
Mar; 14(3): 292-4
2
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e. Treatment/Management
Serial VFs
Routine DFEs
Follow-up with PCP
Fluorescein Angiography to rule out choroidal neovascularization
2. Usher’s Syndrome:
 Disease characterized by hearing loss/deafness and retinitis pigmentosa
 a. Genetics
 USH2A gene on chromosome 1q41 – produces a basement membrane protein in the
retina and inner ear (usherin)
 Variable inheritance pattern5
o 25% AR
o 20% AD with variable penetrance
o 9% X-linked
o 38% isolated
o 8% undetermined
 b. Subtypes
 3 subtypes – differentiated by severity and age of presenting signs and symptoms
o Type I – total deafness, no vestibular function
o Type II – partial deafness, normal vestibular function,
o Type III – deafness, vestibular ataxia, psychosis (Hallgren’s syndrome)
o Type IV – deafness, mental retardation
 Accounts for 3-6% of childhood deafness, and 50% of deaf-blindness in adults6
 c. Symptoms
 Symptoms consist of nyctalopia, dark adaptation deficits, photophobia, progressive
constriction of visual fields, dyschromatopsia, photopsias, progressive decreased
central vision
 d. Ocular Involvement
 Signs include decreased VA, visual field constriction, dyschromatopsia pigmentary
clumps and bone spicules, attenuated vessels, CME, optic disc pallor, PSC, high
myopia, and keratoconus
 e. Lab Testing
 Color Vision (D-15) – normal unless disease is longstanding
 ERG – electronegative b wave, subnormal scotopic amplitudes, may also have
subnormal photopic amps that are typically affected later than the scotopic amps.
 EOG – abnormal
 Dark adaptation – elevated rod and cone thresholds
 Visual Fields – progressive mid-peripheral ring scotomas with central involvement
late in the disease process
 f. Treatment/Management
5
Friedman P, Kaiser NJ, Pineda R, The Massachusetts Eye and Ear Infirmary Illustrated Manual of
Ophthalmology. Philadelphia, PA: Elsevier; 2004
6
http://ghr.nlm.nih.gov/condition=ushersyndrome. Accessed Aug 27th, 2007
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NO effective treatment
Genetic counseling
Low vision consult
15,000 IU of vit A if >18 yrs old (studies show it slows reduction of ERG amps)
3. Vitelliform Dystrophy (Best Disease)
 a. Genetics
 AD with variable penetrance
 Bestrophin gene (VMD2) on chromosome 11q13
 b. Stages
 Previtelliform Phase – young age, fine yellow pigment variations under the central
fovea
 Egg Yolk Phase – occurs between 4 and 10 years old, characterized by abnormal
deposition of lipofuscin pigment in the RPE, mild decrease in BCVA 20/30 to 20/50),
can remain stable for a long period of time
 Scrambled Egg Phase – disintegration of lipofuscin material can cause vision loss,
choroidal neovascularization can also occur
 Pseudohypopyon Phase – egg yolk cyst can liquefy, causing retinal scarring and
reducing vision below 20/100
 c. Lab Testing
 EOG – abnormal (also abnormal in carriers)
 ERG – normal global
 Fluorescein Angiography – early hypofluorescence, with hyperfluorescence in areas
of RPE disruption
 Pedigree Analysis
 d. Treatment/Management
 Low Vision Evaluation
III. DISCUSSION:
The patient’s significant medical history of a fetal infection, deafness since birth,
questionable cardiac problems, and retinal findings directed the diagnosis to Rubella
Retinopathy. Although rare, there have been reports of macular involvement in rubella
retinopathy. The macular changes OS were not noted in the 2001 examination, and the
macular scarring OD appeared to increase in size since the 2001 examination even
though best corrected visual acuity was stable. The appearance of the macula also
suggested a parallel pathological process such as Vitelliform Dystrophy, which also
involves the RPE. Since the patient was deaf and the retinal appearance simulated RP,
Usher’s Syndrome was yet another differential. Usher’s Syndrome is less likely since the
retinal vessels appeared to be of normal caliber, and the optic nerve was healthy. The
patient was to be scheduled for an ERG and Visual Field testing to rule out Usher’s
Syndrome. Since electrodiagnostic testing can rule out 2 of 3 differential diagnoses (an
EOG could rule out Vitelliform Dystrophy), Rubella Retinopathy is a diagnosis of
exclusion. The electrodiagnostic testing is imperative in determining if the patient has a
static disease process, or a progressive disease process. Even with a static disease process
such as Rubella Retinopathy, the possibility of choroidal neovascularization of the
macula requires more frequent follow-up care.
IV. BIBLIOGRAPHY
See footnotes
V. CONCLUSION
This patient has not returned to clinic despite multiple attempts to rebook follow-up
appointments. Efforts will be made to have the patient return to clinic so that appropriate
testing can be performed to determine the diagnosis. The most likely differential
diagnoses are 1. Rubella retinopathy with macular involvement 2. Rubella retinopathy
and Vitelliform dystrophy.
This case shows that the retinal appearance in a pathological process can simulate other
conditions, and differentials always have to be considered before a definitive diagnosis is
made. The case also shows the importance of a comprehensive medical history in
determining those differentials.