Congenital Corneal Anesthesia Research Articles

A rare case of congenital corneal anesthesia

A rare case of congenital corneal anesthesia

Quantitative corneal neural imaging using in vivo confocal microscopy in cases of congenital corneal anesthesia: A prospective analysis and clinical correlation.

Purpose:Congenital corneal anesthesia (CCA) is a rare clinical entity that poses a diagnostic dilemma, particularly in the pediatric age group with very little literature on this. Accurate initial diagnosis, evaluation, early identification of risk factors, aggressive systemic workup, and appropriate therapy are paramount to prevent visual loss due to long-term complications of corneal anesthesia. The purpose of the study was to estimate and compare the corneal neural architecture using real time, in vivo confocal microscopy (IVCM) in patients with CCA as against a control population.Methods:This was a retrospective nonconsecutive, comparative clinical case series in a tertiary hospital in South India from June 2015 to December 2018.Methods:IVCM was accomplished in cooperative children in whom central cornea was relatively clear. The clearest three to five images from each eye were selected, and the nerves were analyzed for length, thickness, density, dichotomous pattern, and beading. Statistical analysis was done using Origin v7.0 (Origin Lab Corporation, Northampton, MA, USA).Results:In total, 15 eyes of 11 cases and 20 eyes of 10 controls were imaged. Measurements on corneal nerve density showed a significant difference (P = 0.0005), cases having a lower mean (3.85 ± 1.38 mm per mm2) compared to the controls (6.74 ± 1.75 mm per mm2). Measurements on corneal nerve length (P = 0.28), thickness (P = 0.45), and presence of beading (P = 0.97) and dichotomous pattern (P = 0.07) did not reveal a significant difference between cases and controls.Conclusion:There is a strong relationship between the functional loss (absent corneal sensation) and anatomical decrease (reduced subbasal nerve density) of corneal nerves in congenital corneal anaesthesia.

Commentary: Congenital corneal anesthesia.

Commentary: Congenital corneal anesthesia.

Congenital Corneal Anesthesia and Neurotrophic Keratitis: Diagnosis and Management.

Neurotrophic keratitis (NK) is a rare degenerative disease of the cornea caused by an impairment of corneal sensory innervation, characterized by decreased or absent corneal sensitivity resulting in epithelial keratopathy, ulceration, and perforation. The aetiopathogenesis of corneal sensory innervation impairment in children recognizes the same range of causes as adults, although they are much less frequent in the pediatric population. Some extremely rare congenital diseases could be considered in the aetiopathogenesis of NK in children. Congenital corneal anesthesia is an extremely rare condition that carries considerable diagnostic and therapeutic problems. Typically the onset is up to 3 years of age and the cornea may be affected in isolation or the sensory deficit may exist as a component of a congenital syndrome, or it may be associated with systemic somatic anomalies. Accurate diagnosis and recognition of risk factors is important for lessening long-term sequelae of this condition. Treatment should include frequent topical lubrication and bandage corneal or scleral contact lenses. Surgery may be needed in refractory cases. The purpose of this review is to summarize and update data available on congenital causes and treatment of corneal hypo/anesthesia and, in turn, on congenital NK.

Congenital corneal anesthesia

To report the various clinical presentations of congenital corneal anesthesia. The medical records of children diagnosed with congenital corneal anesthesia between January 2006 and June 2012 at the L.V. Prasad Eye Institute, Hyderabad, India, were retrospectively reviewed for demographics and clinical characteristics. A total of 40 patients (29 males) were included. Median age at presentation was 12 months (interquartile range, 6-60 months). Bilateral involvement was noted in 28 cases (70%). Generalized pain insensitivity with anhidrosis was documented in 10 cases (25%). The spectrum of corneal lesions included geographic epithelial defects (32 eyes), sterile ulcers (15 eyes), sterile ulcers with hypopyon (11 eyes), secondary bacterial keratitis (2 eyes), superficial/ deep corneal vascularisation (5 eyes). Generalized anesthesia with self-mutilating behavior was recognized in 10 cases. In all cases, sterile corneal ulcers resolved on average 30 days after permanent 2/3-width paramedian tarsorrhapy. One eye progressed to the stage of anterior staphyloma and subsequently underwent auto evisceration. Four eyes that underwent keratoplasty for visual rehabilitation had poor outcomes. Accurate diagnosis, recognition of risk factors, and thorough neurological assessment is important for lessening long-term sequelae of congenital corneal anesthesia. Judicious use of tear substitutes and expedited tarsorrhaphy is crucial to restoration of useful vision in these children.

A case of congenital corneal anesthesia with hypopyon in china.

To report a case of congenital corneal anesthesia (CCA) associated with hypopyon and tactile hypoesthesia. Case report. A 3-year-old girl presented with redness and mild photophobia in the left eye accompanied by corneal ulcer, hypopyon, and corneal neovascularization. Corneal sensation was reduced bilaterally. She exhibited an absence of normal response to painful stimuli. She also had extensive ulceration of the lateral borders and tip of the tongue. The left corneal biopsy revealed negative cultures for bacteria and fungi. She was treated with human amniotic membrane transplantation in the left eye. The response to treatment was good. This is the first case of CCA reported in China. CCA is often misdiagnosed as infectious keratitis. Amniotic membrane transplantation is effective in repairing the severe corneal ulcer which may be associated with CCA.

Anestesia congênita de córnea: relatos de casos

Case series of nine patients with congenital corneal anesthesia, six of them showed systemic changes in association with the ocular status. Three patients were submitted to electromyography, two showed isolated bilateral ophthalmic ramus alteration. Two patients had initial visual acuity better than 20/60 and six had final best corrected visual acuity better than 20/60 at the last visit. All of them were treated surgically and developed cornea opacities of variable sizes. Treatment of corneal congenital anesthesia must be performed as soon as possible to avoid corneal opacification. Systemic investigation, close follow-up and preparing the family for longterm and multidisciplinary approach are crucial to maintain the ocular health.

Septo-optic dysplasia with bilateral congenital corneal anesthesia

Septo-optic dysplasia, or de Morsier syndrome, is characterized by optic nerve hypoplasia with an absent septum pellucidum and/or pituitary abnormalities. Congenital corneal anesthesia is a rare disorder that has been associated with many neurological disorders. Here we present a patient with both conditions who was successfully treated with permanent lateral tarsorrhaphy and aggressive lubrication. To our knowledge, congenital corneal anesthesia has not been reported in association with septo-optic dysplasia. The purpose of this report is to make pediatric ophthalmologists aware of a potential association since the diagnosis of congenital corneal anesthesia is often difficult and delayed.

The Boston Scleral Lens in the treatment of pediatric patients

To report the use of a custom-designed, fluid-ventilated, gas-permeable scleral lens in the treatment of patients under 13 years of age. We retrospectively reviewed the medical records of all patients under 13 years of age who were fitted with the Boston Scleral Lens at the Boston Foundation for Sight from January 1996 through June 2006. Age, sex, ophthalmic diagnosis, systemic diagnosis, prior surgical intervention, complications, lens fit and wearing failures, and duration of lens use are reported. Boston Scleral Lenses were fitted in 47 eyes of 31 patients referred after failure of conventional therapy. Patients ranged in age from 7 months to 12.92 years (mean, 7.75 years) at time of fitting. There were 16 girls and 15 boys in this group. The mean duration of documented scleral lens use was 24 months (range, 0-85 months). A broad range of refractive and ocular surface disorders was treated with this modality, with the vast majority of patients having ocular surface disease (27/31, 87%) rather than refractive disorders (4/31, 13%). Congenital corneal anesthesia syndromes and Stevens-Johnson syndrome each accounted for over one-third of the patients. The Boston Scleral Lens is a custom-designed, fluid-ventilated, rigid gas-permeable scleral lens that vaults the cornea retaining a pool of oxygenated artificial tears over the corneal surface. The Boston Scleral Lens is a treatment option, after failure of conventional therapy, for a broad range of ocular surface and refractive disorders in the pediatric age group. Pediatric ophthalmologists should be aware of this treatment modality, particularly in the management of severe ocular surface disease.

Use of Nerve Growth Factor to Treat Congenital Neurotrophic Corneal Ulceration

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. 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. 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. 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.

Anestesia congênita de córnea associada à anestesia de ramo do trigêmio: relato de caso

Corneal anesthesia is a rare condition, therefore its diagnosis is frequently impaired or it is not noticed during the anterior segment examination. Case report of a 18-year-old patient referred to our Corneal and External Disease Department who complained of dry eye symptoms and with a suspicion of Sjögren's syndrome. She had amblyopia of the right eye, consequence of corneal leucoma over the visual axis secondary to a fingernail traumatism inflicted by herself in childhood. On the ophthalmologic examination corneal sensitivity was absent in both eyes. Severe dry eye and breakup time less than four seconds. Diagnosis of congenital corneal anesthesia was established, secondary to trigeminal anesthesia found on neurological evaluation of facial sensitivity. She also showed sudden movements of the chin which evidenced sensorial pathology of the trigeminal nerve. The general ophthalmologist and specially anterior segment specialists must perform tests for corneal sensitivity during the routine eye examination.

Congenital corneal anesthesia in children with the vacterl association

To describe ocular manifestations in patients with the VACTERL (vertebral, anal, cardiovascular, tracheoesophageal, renal, and limb defects) association. We reviewed the medical records of patients with the VACTERL association who had undergone treatment for amblyopia at the orthoptic department. A striking similarity was found in three unrelated children, who, in addition to clinical manifestations of VACTERL association, showed total corneal anesthesia of one or both eyes that had resulted in recurrent corneal erosions, keratitis, and permanent corneal opacities. Other ocular manifestations included nonparalytic strabismus, anisometropia, and amblyopia. Congenital corneal anesthesia may be part of the VACTERL association.

Congenital Corneal Anesthesia

The case of a 7-month-old infant illustrates the diagnostic findings, including magnetic resonance imaging, and the difficulties of treating congenital corneal anesthesia. The diagnosis of sporadic idiopathic congenital corneal anesthesia was one of exclusion. Normal gasserian ganglia were demonstrated on magnetic resonance imaging. Visual rehabilitation was successful with continuous lubrication, arm splinting at bedtime, and treatment of amblyopia. It continues to be essential for the parents to monitor the corneal status.

Congenital Corneal Anesthesia: Problems in Diagnosis

Congenital corneal anesthesia (CCA) is a rare clinical entity that presents a whole gamut of problems before lending itself to a diagnosis by the clinician. Not recognizing the history of self-inflicted corneal injuries, not evaluating the corneal sensations in a child with recurrent corneal ulceration, misdiagnosis of such cases as viral keratitis, and not ruling out all the secondary causes of corneal anesthesia, as well as the other causes of self-inflicted injuries, are some of the pitfalls in the diagnosis of congenital corneal anesthesia. Four cases representative of different aspects of CCA are presented. The problems in the diagnosis of these cases are discussed. A clinical classification of congenital corneal anesthesia is suggested and the systemic anomalies associated with this disorder are enumerated.

Congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation: A new syndrome?

Two sibs who had hypesthetic corneas, absence of the peripapillary choriocapillaris and retinal pigment epithelium, sensorineural hearing loss bilaterally, persistent ductus arteriosus, moderate mental retardation, and unusual facial appearance are described. Their mother had mild to moderate sensorineural hearing loss, retinal changes and similar facial features. The differential diagnosis is discussed. We believe this is a clinically distinct syndrome with autosomal dominant inheritance.

Congenital Corneal Anesthesia

A 6-year-old boy with a visual acuity of 6/30 (20/100) in each eye had a diffuse corneal epithelial disruption that was most severe in the interpalpebral area. Corneal anesthesia was demonstrated with the Cochet-Bonnet aesthesiometer. Artificial tears, lubricant ointments, and taping of the eyelids were unsuccessful in ameliorating the problem. The use of therapeutic soft contact lenses provided visual acuity of R.E.: 6/12 (20/40), and L.E.: 6/6 (20/20), and arrested the epithelial breakdown. The contact lenses were discontinued after one year, and the corneal epithelium remained intact. Once the cycle of recurrent epithelial breakdown in congenital corneal anesthesia is interrupted for a prolonged period of time, one can expect a continued remission when therapeutic measures are discontinued. With early recognition and treatment of this disorder, corneal scarring can be avoided.