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. 2020 Dec;39(12):1516-1519.
doi: 10.1097/ICO.0000000000002361.

Ocular Findings in Pontine Tegmental Cap Dysplasia

Lauren C Mehner  1 , Jennifer L Jung  1 , John A Maloney  2 , Emily A McCourt  1
Affiliations

Ocular Findings in Pontine Tegmental Cap Dysplasia

Lauren C Mehner et al. Cornea. 2020 Dec.

Abstract

Purpose: To describe the ocular complications experienced by patients with pontine tegmental cap dysplasia (PTCD) and the management strategies used to care for these children.

Methods: Subjects with PTCD were recruited through social media advertisement and completed a survey gathering information on potential ocular problems related to the patient's PTCD disease and any current or previous treatments.

Results: Twenty-two patients or guardians completed the survey. Neurotrophic cornea was the most common ocular diagnosis (82%), followed by facial palsy (59%), dry eye syndrome (59%), and blepharitis (55%). Other diagnoses included cortical visual impairment (27%), strabismus (27%), amblyopia (18%), and nystagmus (18%). Common treatment modalities included lubricating eye drops (59%) or ointment (50%), contact lenses (14%), punctal plugs (27%), glasses (45%), and patching (18%). The most common surgical interventions were temporary or permanent tarsorrhaphy (64%) and amniotic membrane grafts (23%). In total, 68% of families reported self-injury to eyes and 91% reported the child to be primarily a visual learner.

Conclusions: PTCD is a newly described, very rare disorder with a variety of vision-threatening ocular manifestations. It is essential that the ophthalmologist be aware of the potential for neurotrophic cornea because timely treatment could prevent corneal scarring, perforation, and blindness.

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References

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Supplementary concepts