Pediatric Use of Recombinant Human Nerve Growth Factor 20 µg/mL Eye Drops (Cenegermin) for Bilateral Neurotrophic Keratopathy in Congenital Corneal Anesthesia.

PURPOSE: This study aimed to present the efficacy and safety of cenegermin eye drop (Oxervate; Dompè Farmaceutici, Milan, Italy) treatment in a pediatric patient affected by neurotrophic keratopathy (NK) with Goldenhar syndrome. METHODS: This case reports an infant presenting ulceration and a small central opacity in the cornea of the right and left eyes, respectively. The NK bilaterally worsened despite the use of therapeutic contact lenses and temporary partial tarsorrhaphy. Magnetic resonance imaging showed absence and hypoplasia of the right and left trigeminal nerves, respectively. Cenegermin eye drops were administered 1 drop/each eye, 6 times daily for 8 weeks to promote corneal healing. RESULTS: Complete healing was achieved in both eyes after treatment. During the 16-month follow-up period, no epithelial defect, recurrence, or complications were noticed, whereas corneal opacities progressively became clearer, although insignificant improvements in corneal sensitivity or in the reflex tearing were observed. CONCLUSIONS: Cenegermin was effective in treating NK in an infant with Goldenhar syndrome.

Severe congenital bilateral corneal ulceration due to Wolf-Hirschhorn syndrome: a case-report and review of the ophthalmic literature.

A newborn boy with genetically confirmed Wolf-Hirschhorn syndrome presented with severe bilateral corneal ulceration that required emergency surgical tarsorrhaphies and permanent lower punctal occlusion. The patient healed completely, with no recurrence over 18 months of follow-up.

[Tarsal Kink: Pathognomonic Presentation and Therapy of a Rare Congenital Upper Eyelid Malformation]. / Tarsusknickung ("Tarsal Kink"): Pathognomonische Präsentation und Therapie einer seltenen kongenitalen Oberlidfehlbildung.

BACKGROUND: Presentation of a congenital abnormality that is rare, but follows a distinct course and can be diagnosed and cured promptly if the pathognomonic presentation is recognized. A congenital tarsal kink leads to a malposition of the upper eyelid margin that must not be missed, as it will lead to ulcerative keratitis if it is not treated. CASE PRESENTATION: An otherwise healthy newborn was presented after delivery with forceps with marked unilateral purulent secretion and blepharospasm. DIFFERENTIAL DIAGNOSIS: Neonatal dacryocystitis, gonococcal infection, congenital entropion with ulcerative keratitis, tarsal kink. EXAMINATION: It was not possible to fully examine the lid and cornea with the baby awake. Due to total inversion of the lid margin, no lashes could be seen. Under general anesthesia, the tarsal kink, with complete inversion of the lid margin and a corneal ulcer, was confirmed. TREATMENT: The literature offers several methods to correct this rare malposition, all of which aim to strengthen the anterior lamella to correct the kink. After incision of the kink and repositioning of the tarsus and securing the position with fixation sutures, the ulcer healed quickly and completely; lid closure and lid contour were normal and symmetrical. SUMMARY: Complete inversion of the lid margin is the pathognomonic sign of tarsal kink, giving the impression of "missing" lashes, accompanied by blepharospasm, followed by purulent secretion and corneal ulceration. The condition must not be misdiagnosed as only immediate correction can prevent severe damage.

[Congenital corneal anesthesia. A case report]. / Anesthesie corneenne congenitale: a propos d'un cas.

Congenital corneal anesthesia (CCA) is an uncommon condition difficult to diagnose. We report the case of a 4-year-old girl who presented with bilateral congenital corneal anesthesia revealed by a corneal ulcer which had been unresponsive to adapted local treatment. Self-inflicted corneal injuries were present. It is important to search for corneal anesthesia in children with chronic ulceration of the cornea and selfinflicted injuries.

A simple correction for congenital tarsal kink associated with distichiasis.

Congenital tarsal kink is a rare condition. The folded edge of the upper tarsus, or the inturned lashes, may traumatize the cornea causing ulceration. We describe a case of unilateral upper eyelid horizontal tarsal kink associated with distichiasis and congenital corneal ulceration. Several different surgical treatment options have been previously alluded to in the literature including lamellar tarsoplasty, full-thickness eyelid fracture, and rotation and excision of the kink with tarsal reapposition. Repair by means of eyelid everting sutures via an anterior lamellar approach is presented as a novel technique to correct this congenital anomaly.

Use of nerve growth factor to treat congenital neurotrophic corneal ulceration.

PURPOSE: This study was designed to assess the efficacy of nerve growth factor in the treatment of neurotrophic corneal ulceration in a child with bilateral congenital corneal anesthesia secondary to trigeminal insufficiency. METHODS: A 5-month-old child presented to the casualty department with a 2-week history of red eyes and right corneal ulceration. Slit-lamp examination showed a central defect in the right corneal epithelium with underlying stromal opacification, only mild conjunctival inflammation with slight decreased tear production, and otherwise apparently normal eyes. Initially this was investigated as an infected ulcer and treated for several weeks as herpetic ulceration with no beneficial effect. Further clinical examination demonstrated bilateral decreased corneal sensation along with decreased facial sensation in keeping with congenital trigeminal nerve insufficiency. Investigation with magnetic resonance imaging showed no obvious abnormality. Conservative treatment with lubricants resulted in progressive right corneal stromal loss, and no healing occurred in the left corneal ulcer. Bilateral large lateral tarsorrhaphies were performed. Despite this, the left corneal ulcer demonstrated no improvement and increasing stromal opacification was noted. Topical nerve growth factor (NGF) was then used to treat the left cornea and resulted in epithelial healing within 1 week. Treatment was continued for a further 10 days after epithelial healing. Despite conventional treatment on 3 separate occasions, further epithelial breakdown occurred. Topical NGF treatment resulted in a rapid improvement and healing of the epithelial defect.'At present, the patient is receiving a 6-month continuous treatment plan of NGF. RESULTS: Persistent epithelial defects (PED) secondary to neurotrophic ulceration have responded to topical NGF on 3 separate occasions during a 2-year period. The corneal epithelium now remains intact, and the cornea has no vascularization; however, mild anterior stromal opacification has gradually increased despite prolonged NGF treatment. CONCLUSION: NGF seems to represent a safe and efficacious treatment option to restore the integrity of corneal epithelium in which there is congenital corneal anesthesia because of trigeminal insufficiency. However, this treatment alone is insufficient to prevent progressive anterior stromal opacification.

Tarsal kink syndrome associated with congenital corneal ulcer.

We describe a case of unilateral upper eyelid horizontal tarsal kink with congenital corneal ulceration. The surgical repair, by means of a simple resection of orbicularis and skin, is presented as a simple technique to correct the congenital anomaly of tarsal kink. Congenital tarsal kink should be included in the differential diagnosis of congenital corneal opacity and ulceration. Early recognition and surgical intervention reduces corneal scarring.

[Unilateral trigeminal nerve hypoplasia]. / Einseitige Trigeminushypoplasie.

BACKGROUND: Isolated unilateral corneal anaesthesia represents a very rare clinical entity. The underlying cause may be a hypoplasia of the trigeminal nerve. HISTORY AND CLINICAL FINDINGS: A 7 year old otherwise healthy boy presented with mixed conjunctival injection of the left eye, fluorescein-positive punctuate epithelial keratopathy of the cornea and a central corneal ulcer OS. History revealed intermittent, painless redness of the left eye since the age of 4. Trigeminal defects caused by trauma or infection could be ruled out. Tyndall's phenomena was positive. There was no corneal sensitivity on the left side and facial sensitivity was reduced in all branches of the trigeminal nerve. All other ophthalmologic examination results were normal. Magnetic resonance tomography showed a hypoplastic left trigeminal nerve. Mesenchymal syndromes could be ruled out by neuropediatric examination. THERAPY AND CLINICAL COURSE: Treatment with prednisolone and antibiotic ointment and eye patching were performed. The ulcer healed completely and artificial tear substitution was given for prophylaxis. Follow-up examinations after 4 and 6 years showed no signs of inflammation. Biomicroscopy showed only mild fluorescein-positive corneal epitheliopathy. CONCLUSIONS: In cases with painless intermittent keratoconjunctivitis, sometimes associated with corneal ulceration, in early childhood, one should consider acquired or congenital trigeminal anaesthesia. This condition requires life-long corneal ulcer prophylaxis and regular ophthalmologic exams.

Congenital entropion and congenital corneal ulcer.

PURPOSE: We studied a case of corneal ulceration in utero from lower eyelid entropion. METHODS: A 3-week-old male infant was referred for examination of a left corneal ulcer that was present at birth and unresponsive to antibiotics. RESULTS: Examination disclosed a lower eyelid entropion that was treated surgically by a nonincisional method, leaving a central leukoma after re-epithelialization. CONCLUSION: Congenital lower eyelid entropion should be included in the differential diagnosis of congenital corneal opacities.

Anterior chamber cleavage syndrome. A stepladder classification.

This paper classifies the abnormalities of the anterior chamber cleavage syndrome (mesodermal dysgenesis of the iris and cornea). The anatomic findings are arranged in a tabular stepladder fashion which builds from simple to more complex combinations, most of which have been previously known by eponyms. There are three groups of anomalies: 1) peripheral, 2) central, and 3) combinations of the two. 1) The peripheral anomalies consist of a prominent Schwalbe's ring, iris strands to Schwalbe's ring, and hypoplasia of the anterior iris stroma. Developmental glaucoma is commonly present. 2) The essential feature of the central anomalies is a defect in the corneal endothelium and Descemet's membrane with an overlying corneal opacity. Additional components include central iridocorneal adhesions, keratolenticular approximation with cataract, and scleralizaiton of the cornea. Chorioretinal anomalies, developmental glaucoma, and systemic malformations may be present. 3) Central and peripheral combinations may exist in the same eye, in both eyes of the same patient, or within the same family.