Girl presents with unilateral visually significant cataract
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A healthy 8-year-old girl presented to the pediatric ophthalmology service at the New England Eye Center, Tufts Medical Center, for a surgical consultation of a visually significant cataract of her left eye.
Her ocular history included cortical cataract, astigmatism and anisometropic amblyopia of her left eye. The cataract was initially diagnosed 4 years ago by an outside ophthalmologist who had initially attempted amblyopia treatment with glasses and patching. When the patient’s vision did not improve, she was referred for surgical evaluation. The patient was born full term by an uncomplicated delivery. She had no significant medical history. It was unclear to the patient’s mother if the cataract had been present since birth as it was first diagnosed at 4 years old when they moved to the United States. There was no known family history of cataracts.
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Examination
On examination, the patient’s best corrected visual acuities were 20/20 in her right eye and 20/70 in her left eye. She had significant anisometropia with no significant refractive error in her right eye and a refractive error of –6.50 +4.25 × 90 in her left eye. IOPs were within normal limits bilaterally.
The pupillary exam was normal with briskly reactive pupils without a relative afferent pupillary defect. She was orthophoric with full ocular motility and normal visual fields by confrontation. Her stereoacuity was reduced to 140 seconds of arc, and she suppressed her left eye on Worth 4 Dot testing at distance and near. Slit lamp examination was notable for cortical cataract of her left eye with a cortical spoke extending from the nasal quadrant into the visual axis. The dilated fundus exam showed disc asymmetry with a larger optic disc in the left eye that was tilted nasally. The dilated exam was otherwise unremarkable without notable vitreous or retinal abnormalities.
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Cataract
This girl was diagnosed with a cortical cataract, myopia and aniso-astigmatism with combined refractive and deprivation amblyopia of the left eye.
Imaging
Preoperative optical biometry (IOLMaster 700, Zeiss) was notable for axial lengths of 21.7 mm in the right eye and 20.85 mm in the left eye, anterior chamber depths of 3.8 mm in the right eye and 2.85 mm in the left eye, and corneal astigmatism of 0.95 D in the right eye and 3.34 D in the left eye (Figure 1). OCT of both optic nerve heads (Cirrus, Zeiss) showed a larger left optic disc area without relative thinning (Figure 2).
Source: Omar Abu-Qamar, MD, MMSc, and Catherine S. Choi, MD
Intraoperative course
Given the significant axial length discrepancy on IOLMaster, biometry measurements were repeated at the time of surgery under sedation by immersion A-scan that confirmed the discrepancy in axial lengths of 21.66 mm and 20.79 mm in the right and left eyes, respectively.
The cataract surgery was successfully performed via a superior scleral incision approach. Notably, once the cataract was removed, evidence of finger-like projections behind the posterior capsule were observed along the nasal and superior periphery of the angle (Figure 3). Several fine iris strands were noted diffusely in the surgical eye as well.
Discussion
Given multiple anterior segment abnormalities of the patient’s left eye, including shorter axial length, cortical cataract, elongated ciliary processes, iris strands, high corneal astigmatism, and lenticular myopia with pachyphakia and shallower anterior chamber depth as well as minimal anatomic changes of the posterior segment aside from disc asymmetry, the likely diagnosis is anterior persistent fetal vasculature (PFV).
PFV is a failure of the regression of a component of fetal vessels within the eye. It was first described by Reese in 1955, who called it persistent hyperplastic primary vitreous (PHPV). In 1997, Goldberg suggested the terminology change to be more encompassing of all parts of the fetal vasculature anterior to the lens. PFV is typically nonheritable and found in otherwise healthy full-term infants, but associations with systemic conditions have been described. The condition is typically unilateral, so bilateral cases (about 10%) should raise suspicion for genetic mutations and/or associated systemic diseases such as Norrie disease or Walker-Warburg syndrome.
PFV can be classified as anterior PFV syndrome in eyes with mostly tunica vasculosa changes and as posterior PFV syndrome in eyes with mostly hyaloid artery changes. Therefore, infants with PFV can present with a wide spectrum of findings. Characteristically, purely anterior PFV presents as microphthalmia, cataract and elongated ciliary process without notable changes in the posterior segment. The posterior PFV subtype presents similarly with microphthalmia, cataract and characteristic posterior segment findings including a vitreous stalk extending from the optic nerve to the retrolental area and varying degrees of optic nerve dysplasia and/or hypoplasia. In some cases, the vitreous stalks can cause retinal folds that are at risk for developing into tractional retinal detachments. While 60% to 70% of cases present as a combination of the anterior and posterior forms, it is helpful to categorize patients into these subtypes when possible for prognostication purposes, as the purely anterior form (around 25% of cases) has a better visual prognosis and outcomes following surgical treatment.
Leukocoria, due to white cataracts or posterior segment abnormalities, is the most recognized clinical manifestation of PFV. It is often diagnosed in infancy when an asymmetric red reflex is noted. The diagnosis of the anterior form of PFV can be missed or delayed especially in milder cases of patients presenting with relatively good vision and subtle anatomic features without leukocoria, as was the case for our patient. Similarly, Wang and colleagues reported a case of a 7-year-old boy who presented with acute angle-closure attack secondary to congenital cataract necessitating surgical intervention. Intraoperatively, abundant fibrovascular membranes around the lens were noted, which later suggested a diagnosis of anterior PFV rather than simple congenital cataract.
The course of PFV can be unpredictable, and the severity of the condition can range from isolated pupillary strands to severe visual loss due to glaucoma and tractional retinal detachment. Glaucoma is thought to be secondary to angle closure in the setting of a shallow anterior chamber caused by anterior displacement of the iris-lens diaphragm from contraction of the ciliary processes and retrolental membrane. Acute angle-closure attacks can result from rapid swelling of the lens due to tractional tearing of the posterior capsule, from intralenticular bleeding or from a pupillary block mechanism.
Management of PFV has drastically changed since the time when eyes with PFV complications underwent enucleation. The main goal of treatment in PFV is to prevent amblyopia and complications such as retinal detachment. This is achieved in the anterior form by cataract extraction, correcting refractive errors and initiating amblyopia therapy. In the mixed or purely posterior form of PFV, vitrectomy may be required, in addition to cataract surgery and amblyopia therapy. Early detection is key, as early intervention is associated with more favorable outcomes. Hunt and colleagues showed that patients undergoing surgery before 77 days of age were 13 times more likely to obtain a visual acuity of counting fingers or better than those operated on later in life.
Postoperative course
The postoperative course for our patient was uncomplicated, and the dilated exam during the 1-month visit confirmed the elongated ciliary processes (Figure 4). Her postoperative BCVA remains unchanged compared with her preoperative vision of 20/70, limited by refractory amblyopia from delayed surgical referral and intervention. Amblyopia treatment with glasses and patching has been reinitiated for the residual anisometropia. Mild dysplasia of the optic nerve and retina is also suspected based on the larger and more crowded left optic disc and the straightening of vessels nasal to the disc (Figure 2). These findings suggest that our case is in fact more likely a mixed form of PFV than purely the anterior form on the PFV spectrum. The other unique finding in this patient’s eye is the myopia, which Cheung and colleagues reported to be associated with less media opacification, near-normal corneal diameters and a more favorable visual outcome.
- References:
- Brooks BP, et al. Congenital malformations of the eye. https://entokey.com/congenital-malformations-of-the-eye/. Accessed Sept. 16, 2022.
- Cheung JC, et al. J Pediatr Ophthalmol Strabismus. 1997;doi:10.3928/0191-3913-19970501-08.
- Goldberg MF. Am J Ophthalmol. 1997;doi:10.1016/s0002-9394(14)70899-2.
- Hunt A, et al. Br J Ophthalmol. 2005;doi:10.1136/bjo.2004.053595.
- Kozeis N, et al. Case Rep Med. 2012;doi:10.1155/2012/687081.
- Pollard ZF. Trans Am Ophthalmol Soc. 1997;95:487-549.
- Sisk RA, et al. Ophthalmology. 2010;doi:10.1016/j.ophtha.2010.03.062.
- Tripathy K, et al. Persistent hyperplastic primary vitreous. https://eyewiki.aao.org/Persistent_Hyperplastic_Primary_Vitreous. Updated Sept. 3, 2022. Accessed Sept. 16, 2022.
- Wang J, et al. BMC Ophthalmol. 2020;doi:10.1186/s12886-020-01539-1.
- For more information:
- Omar Abu-Qamar, MD, MMSc, and Catherine S. Choi, MD, can be reached at New England Eye Center, Tufts University School of Medicine, 800 Washington St., Box 450, Boston, MA 02111; website: www.neec.com.
- Edited by Yi Ling Dai, MD, and Teresa P. Horan, MD. They can be reached at New England Eye Center, Tufts University School of Medicine, 800 Washington St., Box 450, Boston, MA 02111; website: www.neec.com.