Stuart Hardie* showed up at the emergency room complaining of sudden onset of decreased vision in his right eye. When the ER physician took a look at the 42-year-old man, he knew something was out of line: Mr. Hardie looked as though he had “cat eyes,” the physician said, and he requested an urgent consult.
We Get a Look
When we saw him, Mr. Hardie denied having any flashes, floaters, eye pain, trauma or history of similar symptoms in the past.
Mr. Hardie did tell us that he had had poor vision “ever since he could remember.” He told us that a retina specialist had diagnosed bilateral partial retinal detachments approximately two years ago. Nothing was done, however, as Mr. Hardie had been unable to afford further treatment.
Additionally, he complained of intermittent monocular diplopia in his left eye. When questioned further about his ocular history, he stated his eyes had “been strange since birth.” His family history was significant for a sister who was also born with “interesting eyes.”
His past medical history was unremarkable. Mr. Hardie had no other birth deformities. He denied any history of eye surgery or use of any ocular or systemic drugs. He had no known allergies. He also told us that he had been homeless for a number of years and had never received consistent medical care.
What We Found
Mr. Hardie’s vision was light perception in his right eye and count fingers in his left. His IOP was 40 mmHg and 17 mmHg in the right and left eyes, respectively. Confrontation visual fields were severely constricted bilaterally.
What’s Your Diagnosis?
|Caption: Slit-lamp examination of the right eye exhibited a small corectopic pupil, iridodonensis and transillumination defects (left). The lens was notably absent when viewing through the pupillary aperture both before and after dilation (right).|
External examination of the right eye revealed normal lids, lashes and palpebral conjunctivae. There was mild injection of the bulbar conjunctivae, although the cornea was clear. Trace cellular reaction was present in the anterior chamber. The iris exhibited a small (1 millimeter) decentered pupil, iridodonesis and transillumination defects (left image above). The lens was notably absent from the retropupillary space both before and after dilation (right image above).
Slit-lamp examination of the left eye revealed similar findings; however, with pupillary dilation, the peripheral aspect of the crystalline lens could be seen in upward positions of gaze. These findings were consistent with superotemporal dislocation of the lens. As the left pupil also dilated poorly, an adequate view of the fundus was not obtained.
Gonioscopic examination of both eyes revealed deep anterior chambers with no trabecular meshwork dysgenesis. A B-scan ultrasound was performed. The right eye showed subluxation of the lens into the vitreous body; the left eye was unremarkable.
|Caption: The B-scan of the right eye showed posterior dislocation of the lens.|
Mr. Hardie’s ocular findings were bilateral in nature and present since birth. He had normal angle structures, corectopia, miotic pupils, elevated IOP and bilateral lens dislocation. There was a questionable history of bilateral partial retinal detachments and an otherwise normal physical exam and history.
The differential diagnosis for a patient with dislocated lenses is extensive. It includes trauma, Marfan’s syndrome, homocystinuria, hyperlysinemia, aniridia, iris coloboma, simple ectopia lentis and ectopia lentis et pupillae.
Systemic manifestations such as arachnodactyly, short stature, cardiac or musculoskeletal defects were notably absent in our patient. Thus, diseases involving systemic findings (such as Marfan’s) were unlikely. Although iris anomalies were certainly present in our patient, they could not be described as aniridia or coloboma.
The presence of iris anomalies did lead us to consider such diagnoses as ICE (iridocorneal endothelial) syndrome and Axenfeld-Rieger syndrome. ICE syndrome is associated with angle anomalies and increased IOP. However, since it is unilateral and develops after childhood, this diagnosis was improbable. Axenfeld-Rieger syndrome is a bilateral, autosomal dominantly inherited disease. Its manifestations are present from birth; however, they also include posterior embryotoxon, iridocorneal adhesions and occasionally mid-facial or dental deformities. Thus, the diagnosis of Axenfeld-Rieger syndrome did not fit Mr. Hardie’s findings.
Simple ectopia lentis is a bilateral, primarily autosomal dominant trait without systemic manifestations and without ectopic pupils. Mr. Hardie had ectopic pupils. Considering the pertinent positives and negatives, our patient’s diagnosis was most consistent with ectopia lentis et pupillae (ELeP).
Pinning It Down
ELeP is a bilateral autosomal recessive disorder without systemic manifestations. There is often suspected or known consanguinity.¹-³ The pathogenesis is unknown. Patients present with an eccentric pupil that is often displaced inferonasally, a subluxated or dislocated lens, persistent pupillary membrane, poor vision and a miotic pupil that is difficult to dilate. Iridodonesis and transillumination defects of the iris may be noted. The lens and pupil are usually dislocated in opposite directions and the lens may become totally subluxed. The prevalence of amblyopia, glaucoma, cataracts and retinal detachments are all significantly increased in these patients.
Because individuals with ELeP develop cataracts at an early age, increased IOP and uveitis should alert the clinician to the possibility of phacolytic glaucoma. As the lens may have dislocated into the vitreous and these eyes dilate poorly, this particular diagnosis can be difficult to confirm.
Management of young patients with ELeP includes methods to prevent amblyopia. Annual assessments for progressive lens subluxation, IOP checks to evaluate for the presence of glaucoma as well as periodic B-scans to look for retinal detachments are recommended as well. Elevated IOP should be treated with topical medications and surgical removal of the lens may be required. Genetic counseling is essential.
Where We Are Now
Mr. Hardie’s IOP was brought under control with timolol (Timoptic) 0.5 percent and brimonidine purite 0.2 percent (Alphagan P). He was also started on prednisolone (Pred Forte) for anterior chamber inflammation. Attempts to refract him brought some improvement in his left eye, but we were without success in the right eye. This could be due to prior retinal detachments, amblyopia or both.
At this time, Mr. Hardie has been lost to follow-up. Should he return with uncontrolled IOP and persistent uveitis, it will raise our suspicion that he has developed phacolytic glaucoma. Pars plana vitrectomy and lensectomy may be necessary in order to prevent further visual loss.
1 Goldberg, M. F. Ophthalmology 1988;95: 1080–1087.
2 Cruysberg, J. R. M. and A. Pinckers. Br J Ophthalmol 1995;79:135–138.
3 Rossiter, J. D. et al. Eye 2003;17:243–244.
* Patient name is fictitious.
Drs. Downer and Holt are ophthalmology residents and Dr. Khuddus is assistant professor of ophthalmology; all are at the University of Florida, Gainesville.