Bilateral Corneal Scarring Research Articles

Hereditary Sensory and Autonomic Neuropathy Type VIII: Congenital Insensitivity to Pain with Anhidrosis.

Hereditary sensory autonomic neuropathy type VIII (HSAN VIII) is a rare genetic disorder that characterized by insensitivity to pain, anhidrosis, self-mutilation, and absence of corneal reflex. We here report a 2-year-old female child presented with corneal opacity and was diagnosed HSAN VIII by its typical clinical features confirmed by gene analysis revealing the presence of homozygous mutation in the PRDM12 gene. Case Summary A 2-year-old female child was presented with complaint of corneal opacity in both eyes noticed 4 months ago [Figure 1a]. The mother also complained of missing both upper and lower front teeth [Figure 1b]. Frequent history of trauma either unknown or self-mutilated without any sign of discomfort was revealed. No lacrimation during cry, lack of sweating with dry skin, and recurrent episodes of unexplained fever were also noticed [Figure 1c]. She was the only child of consanguineous marriage with no similar disease in the family. General examination revealed evidence of mutilation such as multiple scars, well-defined nontender ulcers over face and limbs, and shortening of distal phalanges [Figure 1d-f]. Ocular examination showed absence of corneal sensation with corneal scar. Neurologic examination found generalized absence of pain and temperature perception with loss of reflexes. Gene analysis revealed the presence of homozygous mutation in the PRDM12 gene confirming the diagnosis of HSAN VIII.Figure 1: Composite picture depicting various manifestations of a child with hereditary sensory and autonomic neuropathy type VIII: (a) bilateral corneal scarring, (b) missing upper and lower front teeth, (c) dry skin, (d) painless ulcer on the right ankle, and (e and f) mutilated distal phalanges of hand and feetHSAN type VIII comprises a group of genetic disorders involving sensory and autonomic dysfunctions, described as a rare autosomal recessive disorder caused by homozygous mutation in the PRDM12 gene on chromosome 9q34.[12] It is characterized by insensitivity to pain and thermal stimuli, altered sweat and tear formation, self-mutilation behavior, absence of the corneal reflex resulting in corneal scarring and presence of repeated infections of the skin and bone that are also common [Table 1].[34] The diagnosis of HSAN is challenging due to its rarity and lack of simple diagnostic tests. The affected persons are vulnerable to severe complications and self-mutilation. Therefore, early identification and appropriate management are necessary to avoid severe injuries and its consequences.[5]Table 1: Reported cases of hereditary sensory autonomic neuropathy type VIII (HSAN VIII)Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.

The Value of Conjunctival Immunohistochemistry Analysis for the Diagnosis of Ocular Mucous Membrane Pemphigoid

Ocular Mucous Membrane Pemphigoid (OMMP), a subset of Mucous Membrane Pemphigoid (MMP) is an autoimmunemediated progressive cicatrizing conjunctivitis with the potential for corneal blindness. Direct Immunofluorescence (DIF) is considered the gold standard for the diagnostic confirmation of this condition; nevertheless, in many cases, this immunopathological technique is inconclusive. A 54 years old female presented to our service complaining of progressive diminished visual acuity, foreign body sensation, and photophobia in both eyes. The slit-lamp examination showed bulbar and palpebral conjunctival hyperaemia, as well as bilateral corneal scarring. During clinical follow-up, progressive conjunctival scarring with inferior fornix foreshortening, symblepharon formation, and significant corneal opacity dramatically diminished her visual acuity. A conjunctival biopsy was negative for DIF; therefore, Immunohistochemical analysis (IHCA) for IgG, IgA, and C3 immune reactants linear deposition on the conjunctival Basement-membrane zone (BMZ) was necessary for diagnosis confirmation. The present clinical case highlights the utility of paraffin-embedded conjunctival IHCA as an alternative immunohistopathology tool for the diagnosis of OMMP when DIF is non-conclusive.

Visual acuity improvement in bilateral corneal scars following the use of rigid gas permeable contact lens : a case report

Visual acuity improvement in bilateral corneal scars following the use of rigid gas permeable contact lens : a case report

Symptoms, Signs and Long-term Prognosis of Vertically Transmitted Chlamydia trachomatis Infections.

Although Chlamydia trachomatis infection is common in pregnant women, such infections are rarely encountered in infants. To clarify the recognition of C. trachomatis infections in infants, we analyzed symptoms and signs of perinatally acquired chlamydial infection, together with its long-term prognosis in a large population-based patient series. A search through 2 national health registries covering 1996-2011, a cohort of 933,823 births, yielded 124 children with a microbiologically confirmed C. trachomatis infection. We then reviewed copies of the children's medical records up to 16 years of age. One-third of the infants with chlamydial conjunctivitis (33/110) had spontaneous blood-stained discharge from the infected eye. The infants with C. trachomatis lower respiratory tract infection were mostly afebrile (30/32), and 15/32 of them had wheezing. Staccato cough was not recorded in any of the infants. The median diagnostic delay from the onset of the symptoms was 13 (range 4-374) days for conjunctivitis and 25 (range 10-149) days for lower respiratory tract infection. One neglected child developed bilateral corneal scars because of an untreated C. trachomatis infection. Blood-stained discharge was a typical finding in C. trachomatis conjunctivitis. The C. trachomatis-infected infants had severe and prolonged symptoms, but long-term consequences were rare. The diagnostic delay was long, especially among the infants with a C. trachomatis lower respiratory tract infection.

Pattern of eye diseases and visual impairment among students in southwestern Nigeria

The aim of the study was to determine the prevalence and causes of eye diseases and visual impairment in students in the Ilesa East local government area of Osun state, Nigeria. A cross-sectional survey that utilised a multistage random sampling method to select 1,144 primary and secondary school students. A total of 1,144 students (504 males and 640 females) were involved in the study. Their ages ranged from 4 to 24 years. The majority (97.8%) of them were below 18 years of age. A total of 177 (15.5%) of the school children were found to have eye diseases. The major ocular disorders were in the following order: conjunctiva 91 (51.4%), refractive error 66 (37.3%), lid 7 (4.0%), corneal, including staphyloma and keratoconus 5 (2.8%) and then others. These included conjunctival diseases 91 (8%) constituted mainly by allergic/vernal conjunctivitis 85 (7.4%), refractive error 66 (5.8%), lid disorders 6 (0.6%), squint 3 (0.3%), corneal scarring 3 (0.3%) and cataract 2 (0.2%). A total of 15 students were visually impaired, with a prevalence of 1.26%. Only two students were blind, with a prevalence of 0.17%. Causes of visual impairment were refractive error 10 (0.87%), bilateral immature cataract 1 (0.08%), corneal opacities 2 (0.2%), amblyopia leading to squint 1 (0.08%) and cataract 1 (0.08%). The causes of blindness in students were bilateral corneal scars presumed to be due to vitamin A deficiency in one (0.08%) student and complicated bilateral keratoconus with complicated vernal ulcers in another (0.08%). Eye diseases are common amongst Nigerian students. Eye examination for all new intakes and regular screening in both public and private primary and secondary schools is advocated. Wearing of corrective glasses should be emphasised for children with refractive error. Causes of blindness and visual impairment in children attending regular schools in Nigeria were avoidable.

Bilateral corneal scarring after LASIK and PRK in a patient with propensity to keloid scar formation

Bilateral corneal scarring after LASIK and PRK in a patient with propensity to keloid scar formation

Results of Penetrating Keratoplasty in Aniridia

Eight aniridic patients with bilateral corneal scarring, vascularization, or edema underwent corneal transplantation in one or both eyes (11 eyes). Follow-up ranged from eight months to 5 1/2 years (average, three years). Six of 11 eyes (55%) had at least a two-line improvement in visual acuity and eight of 11 (73%) had at least one line of improvement. Best-corrected visual acuity was 20/200 or worse in nine of 11 eyes (82%), however. Postoperative complications included whorl keratopathy, persistent epithelial defects, central subepithelial scarring, peripheral vascularization with pannus, and graft rejection. Glaucoma was well controlled medically but five of nine patients (56%) with preexisting glaucoma needed an increase in medication for intraocular pressure control. Graft rejection occurred in seven of 11 eyes (64%) and three of these eyes required repeat transplantation.

Increase in Ocular Axial Length in Patients with Corneal Opacification

Seventy-nine patients were studied for corneal opacification and axial myopia. They were divided into three groups. One group had bilateral clear corneas; the second had unilateral corneal scars; and the third had bilateral corneal scars. A statistically significant difference was found in the mean axial length of eyes with bilateral corneal scars when compared with age- and sex-matched controls with normal corneas (P < 0.0001). In addition, there was a significant increase in the mean axial length of eyes with corneal scars when compared with their fellow eyes (P = 0.025).