Don’t get me wrong . . . children are lovely – but they can also be a challenge. Those who perform vision and ophthalmic screening of pediatric populations know this to be particularly true. Despite their short attention spans and inability to communicate their symptoms, effective screening is necessary throughout a child’s development. It is estimated that 2 to 4% of children have an eye problem that requires treatment – and failure to detect and address these various ocular conditions or pathology can have dire consequences.
Dr. Rashmi Kumari and Dr. Bhawesh Chandra Saha, Senior Ophthalmology Residents in Patna, Bihar, India, highlight the need for thorough screening of children with eye deviations in their recent publication in the September 2017 issue of Journal of Clinical and Diagnostic Research. They presented a case of a 15-year-old male with bilateral Persistent Hyperplastic Primary Vitreous (PHPV), also known as Persistent Fetal Vasculature (PFV), without leucokoria, who was misdiagnosed with congenital esotropia with amblyopia. In infancy, he was noted to have an inward deviation and abnormal eye movements of both eyes, and from the age of 7, he complained of defective vision. He was diagnosed with congenital esotropia and his refractive errors were addressed. His family was assured that correction of his residual squint would be treated when he was older.
At age 15, his symptoms had continued to progress, and he was referred for evaluation of his visual acuity decline and persistent deviation by the tertiary eye center in Patna, Bihar. On slit lamp examination, a fibrous band attached to the posterior surface of the lens capsule was clearly observed in both eyes. This finding was confirmed by ocular ultrasound which showed a thick echogenic membrane-like structure that extended from the posterior surface of the lens to optic nerve head. Examination of the posterior segment revealed a falciform fold arising from the optic disc. Axial length measurements were also suggestive of microphthalmia.
These findings all pointed to a diagnosis of bilateral PHPV – and a severely delayed diagnosis at that. Although there was no systemic abnormality detected (as may be expected in bilateral cases), visual acuity could not be improved with refractive correction. This suggests that stimulation deprivation amblyopia had already occurred, likely years earlier.
The visual prognosis for this young man was very poor and surgery for the deviation would only provide cosmetic correction; therefore his parents opted not to proceed with surgery.
PHPV is a congenital anomaly, resulting from failure of the embryological, primary vitreous, and hyaloid vasculature to regress. In full-term infants, it typically presents unilaterally, without any associated systemic findings. Reports of bilateral PHPV are quite rare, and the vast majority are associated with a systemic syndrome such as trisomy 13, 15, or 18, Norrie’s disease, or Warburg’s.
This case was also unique in that there was no white pupillary reflex, which may have contributed to his delayed diagnosis. Parents will often notice, and be concerned by, a white reflex, prompting earlier examination and intervention.
Recommendations for PHPV management include surgery at an early age, prompt optical correction with contact lens, and aggressive amblyopia for successful visual rehabilitation. Surgery in infancy is often required, because many eyes with PHPV develop severe glaucoma, retinal detachment, intraocular hemorrhage, or phthisis. It was surprising, and fortunate, that this young man did not develop these serious complications or require enucleation.
Although the patient had been examined by numerous doctors since infancy for his deviating eyes and poor vision, a complete examination including dilated fundoscopy was never attempted, likely because an alarming pathology, such as leukocoria, was not obvious.
Drs. Kumari and Saha note that the diagnosis of PHPV was made quite easily on slit lamp examination with dilated pupil, particularly in this case as the media remained largely clear. They stress the importance of a thorough detailed posterior segment evaluation in every child presenting with squint and nystagmus. Even though visual prognosis in eyes with PHPV is poor, early intervention and management is critical to preserve some degree of productive vision for the child.
This case demonstrates just how essential screening of the posterior segment is for children with deviated eyes in order to ensure the absolute earliest detection and management of such pathologies.
Reference:
Kumari R, Saha BC .Bilateral Persistent Hyperplastic Primary Vitreous – A Rare Case Report. J Clin Diagn Res. 2017;11(9):ND01-ND02.
