Retinitis pigmentosa (RP) is characterized by night blindness, visual
field loss, and reduced or extinguished electroretinogram results. Retinitis
pigmentosa may be associated with a wide variety of ocular and systemic disorders.
Ectopia lentis, a dislocation of the crystalline lens, may cause visual disturbances
depending on the type and degree of dislocation and may be associated with
a variety of ocular and systemic abnormalities. When associated with systemic
disorders, ectopia lentis may be an important diagnostic sign.1
An association between RP and ectopia lentis has rarely been reported. We
describe 2 siblings exhibiting RP and ectopia lentis with an autosomal recessive
A 42-year-old Japanese woman was brought in for a consultation in 1999
because her mother noticed that the patient's visual acuity was gradually
decreasing. She was born under asphyxial conditions after an 8-month pregnancy.
She began walking at age 7 years, talking at age 10 years, and began menses
at age 17 years. Microcephaly was pointed out at age 5 years. She did not
have a history of convulsions or ocular trauma, and could speak and understand
only a few words. She was 140.8 cm tall, weighed 53.6 kg, had an arm span
of 135 cm, and a head circumference of 48 cm (less than the third percentile).
No other systemic disorders were observed.
Her visual acuity was 20/470 OD and 20/710 OS using Teller acuity cards
but nystagmus was not observed. Slitlamp biomicroscopy revealed normal corneas
and anterior chambers but iridodonesis associated with ectopia lentis was
detected bilaterally. The lens was dislocated inferiorly and showed mild opacities
in both eyes (Figure 1).
Slitlamp photographs showing dislocation
of the lens inferiorly in the right (A) and left (B) eyes of case 1. In case
2, the lens in the right (C) and left (D) eyes were dislocated superiorly
and nasally, respectively.
Results of fundus examination showed macular degeneration associated
with pigmentary retinal degeneration in the pericentral region in both eyes.
The retinal arteries were attenuated and the optic disc was somewhat pale
(Figure 2). Fluorescein angiography
showed hyperfluorescence of the posterior lesions associated with a hypofluorescence
in the peripapillary region bilaterally (Figure 2).
A and C, Fundus photographs of
the left eye showing pigmentary retinal degeneration in the pericentral region
and macular degeneration. B and D, Fluorescein angiograms showing diffuse
hyperfluorescence of the posterior lesions. A and B, case 1. C and D, case2.
The amplitudes of the a-waves on the results of dark-adapted standard
electroretinograms were severely reduced and the b-waves were extinguished.
The rod-isolated responses were extinguished while the cone-isolated responses
were markedly reduced (Figure 3).
Electroretinograms (ERGs) of cases
1 and 2. The standard and cone-isolated responses were severely reduced while
the rod-isolated responses were nonrecordable in case 1. All ERGs of case
2 were nonrecordable.
The 37-year-old brother of case 1 was also born under asphyxial conditions
after a full-term pregnancy. He began to walk at age 2 years and abnormal
electroencephalogram results were detected at age 5 years. However, he had
no history of convulsions or ocular trauma. He could speak and understand
only a few words and had been our patient since 1990 because his mother noticed
that he had impaired visual acuity and night blindness.
The initial visual acuity was 20/200 OU using Teller acuity cards. Slitlamp
examination showed ectopia lentis in the right eye. Fundus examination results
disclosed macular degeneration associated with pigmentary retinal degeneration
bilaterally. Neuronal ceroid lipofuscinosis was suspected because of both
pigmentary retinal degeneration and mental retardation; however, there were
neither vacuolated lymphocytes nor inclusion bodies specific for the disease.
Results of computed tomography and magnetic resonance imaging showed microcephaly
but no abnormality in the brain.
In 1999, he was 159.5 cm tall, weighed 56.0 kg, had an arm span of 145
cm, and a head circumference of 49 cm (less than the third percentile). His
visual acuity was 20/630 OU using Teller acuity cards. He was exotropic but
nystagmus was not observed. Slitlamp biomicroscopy revealed that the corneas
and anterior chambers were normal but iridodonesis associated with ectopia
lentis was observed in both eyes. The lens in the right eye was dislocated
upward while that in the left eye was dislocated nasally (Figure 1). The lenses had mild opacities. Fundus examination and
fluorescein angiography results disclosed a similar appearance to those of
his sister (Figure 2). All electroretinograms
were nonrecordable (Figure 3).
Our 2 patients are members of a Japanese family with RP, ectopia lentis,
microcephaly, and mental retardation with no history of consanguinity (Table 1). They had twin brothers who died
soon after birth for unknown reasons. Results of ocular examination of the
parents exhibited only cataractous lenses that were considered to be caused
by age-related changes and the lenses were not dislocated. They had no complaints
of night blindness although the patients' father had congenital dyschromatopsia.
There was no exposure to toxic substances or infectious organisms during pregnancy.
We conclude that some of the disorders associated with our patients were congenital
and were inherited in an autosomal recessive fashion.
From a review1 of the ocular findings
and systemic disorders associated with patients with ectopia lentis, we were
able to exclude the most common syndromes, such as Marfan syndrome, homocystinuria,
Weil-Marchesani syndrome, hyperlysinemia, and sulfite oxidase deficiency because
both patients had neither the characteristic skeletal/ features nor the abnormal
amino acid levels in the plasma and/or urine. Furthermore, Refsum syndrome,
in which both RP and ectopia lentis can be present, was excluded because of
the absence of peripheral neuropathy and the normal plasma levels of phytanic
acid. Serologic testing ruled out lues. Chromosomal study revealed normal
karyotype in both patients, and they had no sign of hyperextensibility of
the joints and skin, polydactyly, and cardiovascular disorders. None of the
syndromes or eye diseases in the literature matched the signs and symptoms
of our patients.
Although microcephaly with chorioretinopathy has been found as a hereditary
disorder (OMIM [online mendelian inheritance in man] 251270), the mental retardation
and microcephaly observed in our patients may have resulted from the asphyxial
condition because perinatal asphyxia associated with hypoxic-ischemic brain
injury is an important cause of neurodevelopmental impairments, such as motor
disabilities, visual and/or hearing impairments, and cognitive and learning
disabilities.2 The degree of visual impairment
depends on the extent of damage of the optic radiations and/or visual cortex.
To the best of our knowledge, only 3 cases of hereditary chorioretinal
disorders associated with ectopia lentis have been reported.3- 5
Although these patients also showed autosomal recessive inheritance, they
had dense or posterior subcapsular cataracts. Our patients showed mild nuclear
and cortical cataracts. Thus, chorioretinal disorders associated with ectopia
lentis may be a new clinical entity although subclinical and genotypic classification
will be necessary.
Corresponding author and reprints: Hajime Sato, MD, PhD, Department
of Ophthalmology, Tohoku University School of Medicine, 1-1 Seiryo-machi,
Aoba-ku, Sendai 980-8574, Japan (e-mail: firstname.lastname@example.org).
Sato H, Wada Y, Abe T, Kawamura M, Wakusawa R, Tamai M. Retinitis Pigmentosa Associated With Ectopia Lentis. Arch Ophthalmol. 2002;120(6):852-854. doi: