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Posterior Polymorphous Corneal Dystrophy in a Pediatric Population
Abdelrahman M Elhusseiny1,2, Hajirah N Saeed1,2
1Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, MA; and.
Insights
Posterior polymorphous corneal dystrophy (PPCD) often presents unilaterally in children, causing astigmatism and amblyopia. Early diagnosis and regular follow-ups are crucial for managing this rare genetic eye condition.
Area of Science:
- Ophthalmology
- Genetics
- Pediatric Eye Care
Background:
- Posterior polymorphous corneal dystrophy (PPCD) is a rare, inherited eye disorder.
- It affects the cornea's innermost layers, potentially leading to vision impairment.
- Understanding its presentation in children is vital for timely intervention.
Purpose of the Study:
- To evaluate the clinical and topographic features of PPCD in pediatric patients (≤15 years).
- To assess long-term outcomes and identify key diagnostic indicators in children.
- To compare affected eyes with unaffected contralateral eyes in unilateral cases.
Main Methods:
- Retrospective case series of pediatric PPCD patients diagnosed between 1999-2020.
- Data included demographics, clinical findings (slit lamp, refraction, visual acuity), corneal topography, and specular microscopy.
- Analysis focused on differences between affected and unaffected eyes in unilateral cases.
Main Results:
- Nineteen patients (27 eyes) with PPCD were analyzed; 11 cases were unilateral.
- Affected eyes showed significant differences in endothelial cell density and hexagonality compared to unaffected eyes.
- Initial presentation included astigmatism and amblyopia, with resolution in some cases after treatment.
Conclusions:
- PPCD can manifest early in children, presenting with astigmatism and anisometropic amblyopia.
- Unilateral presentation is more common in children than adults.
- Regular monitoring with slit lamp exams and cycloplegic retinoscopy is essential for early detection and management of refractive amblyopia.
Purpose:
The aim of this study was to evaluate the clinical and topographic features of posterior polymorphous corneal dystrophy (PPCD) in children aged 15 years or younger with a long-term follow-up. Retrospective case series.
Methods:
A retrospective chart review of patients who were diagnosed with PPCD at Boston Children's Hospital from 1999 to 2020 was performed. Data collected included age at the time of diagnosis, slit lamp findings, cycloplegic refraction, best-corrected visual acuity, central corneal thickness, specular microscopy, and corneal topography findings whenever available.
Results:
Twenty-seven eyes of 19 patients were included (11 unilateral and 8 bilateral cases). Ten patients were girls (52.6%). Left eye was affected in 14 eyes. The mean age at the time of diagnosis was 8.5 ± 3.3 years, with a mean follow-up of 5.3 years. In unilateral cases, there was a statistically significant difference in the endothelial cell density (P = 0.01), coefficient variation (P = 0.03), and hexagonality (P = 0.01) between the affected and the contralateral unaffected eyes. The mean best-corrected visual acuity at initial presentation was 0.8 ± 0.2 compared with 0.9 ± 0.08 in unaffected eyes (P = 0.04). The mean astigmatism was higher in the affected eye (+1.7 diopters) compared with (+1.00) the unaffected eye (P = 0.07). At initial presentation, 7 of 27 eyes had amblyopia, which resolved, either partially or completely, in 5 eyes after treatment.
Conclusions:
PPCD can present early in children with astigmatism and anisometropic amblyopia. A careful slit lamp examination for children presenting with anisoastigmatism is necessary to diagnose PPCD. Contrary to adults, presentation is often unilateral. Such patients should be followed up regularly with cycloplegic retinoscopy to prevent and treat refractive amblyopia if present.
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