Ocular Findings in Pontine Tegmental Cap Dysplasia

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.

Corneal Neurotization Using the Great Auricular Nerve for Bilateral Congenital Trigeminal Anesthesia

“…It is becoming more frequently recognized because of advances in imaging technology. 3,18 PTCD is typically characterized by ataxia, developmental delay, and multiple cranial nerve involvement, with neurotrophic keratitis being the most common finding. 3 As seen in our case, congenital corneal anesthesia can result in permanent visual loss at a very young age despite conservative treatment with lubricants, serum drops, amniotic membrane grafting, and tarsorrhaphies.…”

“…3,18 PTCD is typically characterized by ataxia, developmental delay, and multiple cranial nerve involvement, with neurotrophic keratitis being the most common finding. 3 As seen in our case, congenital corneal anesthesia can result in permanent visual loss at a very young age despite conservative treatment with lubricants, serum drops, amniotic membrane grafting, and tarsorrhaphies. Such therapies inevitably fail in the long term because they do not provide trophic factors for epithelial cell migration and proliferation.…”

“…1,2 Facial anesthesia is often the presenting feature in the other 2 groups which are associated with congenital abnormalities affecting the mesoderm or brain stem such as the recently described pontine tegmental cap dysplasia (PTCD). [1][2][3] Intact corneal sensation plays a vital role in maintaining the integrity of the corneal epithelium. Corneal nerves not only mediate protective blinking and tear production but also release neurotransmitters to promote epithelial proliferation.…”

“…1,2 Facial anesthesia is often the presenting feature in the other 2 groups which are associated with congenital abnormalities affecting the mesoderm or brain stem such as the recently described pontine tegmental cap dysplasia (PTCD). 1–3…”

Pontine Tegmental Cap Dysplasia: A Rare Brainstem Malformation Mimicking Hereditary Sensory Autonomic Neuropathy

“…The clinical manifestations of PTCD reflect the involvement of structures in the hindbrain. [ 1 2 6 ] The onset can be in the neonatal period, which is usually severe, or in early childhood and often sporadic. The clinical hallmarks are the presence of involvement of cranial nerves (V, VI, VII, and VIII), developmental delay, cognitive impairment, and cerebellar symptoms like hypotonia, ataxia, and oculomotor apraxia.…”