Clinicopathologic Reports, Case Reports, and Small Case Series
June 2002

Retinitis Pigmentosa Associated With Ectopia Lentis

Author Affiliations

Copyright 2002 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.2002

Arch Ophthalmol. 2002;120(6):852-854. doi:

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 inheritance pattern.

Report of Cases
Case 1

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).

Figure 1
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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).

Figure 2
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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).

Figure 3
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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.

Case 2

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.

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Clinical Characteristics of the Family Members*

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.35 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:

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