Congenital Corneal Staphyloma: A Comprehensive Histopathologic Assessment Including Associated Anterior Segment Abnormalities.

Congenital corneal staphyloma is a rare congenital malformation with guarded visual potential. The cornea is opaque, markedly ectatic, and lined by uveal tissue with a variety of associated anterior segment abnormalities. In this case report, the detailed histopathology of this condition is highlighted with an unusual finding of the malformed lens. [J Pediatr Ophthalmol Strabismus. 2024;61(3):e28-e32.].

Clinical and confocal imaging findings in congenital corneal anaesthesia.

BACKGROUND/AIMS: Congenital corneal anaesthesia (CCA) is an uncommon cause of corneal ulceration in young patients, with a reported poor visual prognosis. We correlated clinical findings in patients with CCA with corneal sub-basal nerve plexus (SBNP) morphology and dendritiform cell density (DCD) on confocal microscopy. METHODS: A prospective, case-control study was conducted at a referral clinic. History includied presenting features in patients with CCA, clinical course and examination findings. Differences in SBNP morphology and DCD on in vivo confocal microscopy (IVCM) were compared in cases and control subjects with healthy corneas. RESULTS: Eight patients with CCA were examined, of which three had a diagnosis of familial dysautonomia. Age at initial diagnosis of corneal disease ranged from infancy to 22 years, the most common presentation being corneal ulceration. All patients with CCA except one with optic neuropathy had corrected visual acuity 6/18 (logMAR 0.35) or better in at least one eye. Measured corneal sensation was minimal in all patients. Major abnormalities were found on confocal microscopy in all patients with CCA, whether or not inherited, including statistically significant reduction in SBNP nerve fibre density, fibre length and branch density. Increased DCD in superficial cornea was found in all patients with CCA. CONCLUSION: Good visual acuity can be maintained in eyes with corneal anaesthesia present from birth. IVCM provides direct evidence of a morphological correlate for measured corneal anaesthesia. Increased DCD may indicate an enhanced role for innate immune cells in superficial cornea in protection of the anaesthetic ocular surface.

Histopathological examination of congenital corneal staphyloma and prognosis after penetrating keratoplasty.

The aim of this study was to investigate the histopathological manifestations of congenital corneal staphyloma accompanied by anterior segment dysgenesis and evaluate the prognosis after penetrating keratoplasty with an ultralarge button graft.We retrospectively studied 8 pediatric patients with large congenital corneal staphylomas in the Department of Ophthalmology of Peking University Third Hospital, China, between September 2014 and December 2018. All patients underwent penetrating keratoplasty with ultralarge button grafts, as well as additional operations according to the abnormality of each eye. Pathological investigations of all samples obtained during penetrating keratoplasty were performed with hematoxylin and eosin staining.The main clinical characteristic of congenital corneal staphyloma was an extremely opaque and ectatic cornea. Histopathological examination showed abnormal corneal epithelia and stroma and an absence of Bowman membrane, Descemet membrane, and the endothelium. Different severities of anterior segment dysgenesis, presenting as various histopathological manifestations, were observed in all cases. Several postoperative complications occurred after penetrating keratoplasty in some of the patients; however, the complications were discovered and treated accordingly in a timely manner. Six patients achieved good visual outcomes and a satisfactory cosmetic appearance after penetrating keratoplasty. One patient eventually lost the transparency of the button because of corneal neovascularization, and 1 patient lost visual function because of retinal detachment.Congenital corneal staphyloma combined with anterior segment dysgenesis can exhibit various manifestations on histopathological examination. Penetrating keratoplasty with an ultralarge button graft seems to be a suitable treatment for congenital corneal staphyloma to obtain good functional and aesthetic prognoses.

Microcornea, Posterior Megalolenticonus, Persistent Fetal Vasculature, and Coloboma Syndrome Associated With a New Mutation in ZNF408.

The authors report a case of a 6-week-old girl with microphthalmia, posterior lenticonus, persistent fetal vasculature, and coloboma of the right eye, with morning glory disc anomaly and falciform retinal folds of the left eye. Genetic testing revealed a previously unreported mutation (c.1471A>G [p.T491A]) in the gene ZNF408, which has been associated with autosomal recessive retinitis pigmentosa and autosomal dominant familial exudative vitreoretinopathy. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:253-256.].

Surgical Outcome of Congenital Cataract in Eyes With Microcornea.

PURPOSE: To report the intraoperative and postoperative outcomes of congenital cataract surgery in eyes with microcornea. METHODS: In this retrospective, interventional, comparative case series, the authors reviewed 47 eyes of 26 children with microcornea and congenital cataract (21 bilateral and 5 unilateral) who underwent lens aspiration with primary posterior capsulectomy and anterior vitrectomy between 2008 and 2014 with a minimum follow-up period of 6 months. Demographic profiles and systemic and ocular features were documented. Intraoperative and postoperative complications were studied separately for bilateral and unilateral cases. Patients were also divided into two groups on the basis of their ages at surgery (early surgery group: 3 months or younger; late surgery group: older than 3 months) and postoperative complications were compared. Visual outcome was analyzed in those with a follow-up period of more than 1 year. RESULTS: Early surgery was performed in 24 eyes of 13 patients (11 bilateral and 2 unilateral) and late surgery in 23 eyes of 13 patients (10 bilateral and 3 unilateral). Intraoperatively, all eyes had poor pupillary dilatation and 6 (12.8%) eyes needed iris hooks. Postoperatively, the most common early complication was transient corneal edema observed in 22 (46.8%) eyes (13 and 8 eyes in the early and late surgery groups, respectively). Late complications included visual axis opacification in 6 (12.76%) eyes (3 in each group), and secondary glaucoma in 5 (10.64%) eyes (2 and 3 eyes in the early and late surgery groups, respectively). Vision was normal for age in 18 (60%) of the bilateral cases with a follow-up period of more than 1 year. CONCLUSIONS: Early surgical intervention for congenital cataract in eyes with microcornea can result in favorable outcomes with an acceptable rate of postoperative complications. [J Pediatr Ophthalmol Strabismus. 2018;55(1):30-36.].

Analysis of KERA in four families with cornea plana identifies two novel mutations.

PURPOSE: To identify the molecular genetic cause in four families of various ethnic backgrounds with cornea plana. METHODS: Detailed ophthalmological examination and direct sequencing of the KERA coding region in five patients of Czech and Turkish origin and their available family members. RESULTS: Compound heterozygosity for a novel missense mutation c.209C>T; p.(Pro70Leu) and a novel splice site mutation c.887-1G>A in KERA were detected in two affected siblings of Czech origin. In silico analysis supported the pathogenicity of both variants. The second proband of Czech origin harboured c.835C>T; p.(Arg279*) in a homozygous state. Homozygous mutations c.740A>G; p.(Asn247Ser) and c.674C>T; p.(Ile225Thr) were identified in the Turkish probands, both born out of consanguineous marriages. Observed ocular phenotypes were typical of cornea plana with the exception of one Czech patient who also had marked thinning and protrusion in the superior part of the left cornea (mean keratometry 47.2 D). No corneal endothelial cell pathology was found by specular microscopy in seven eyes, in three eyes visualization of the posterior corneal surface was unsuccessful. CONCLUSION: KERA mutation c.740A>G has been identified to date in three different populations, which makes it the most frequently occurring mutation in patients with cornea plana. Marked corneal thinning and ectasia are a very rare finding in this disorder and longitudinal follow-up needs to be performed to determine its potential progressive nature.

Outcomes of penetrating keratoplasty in congenital hereditary endothelial dystrophy.

BACKGROUND/AIM: To report the outcome of penetrating keratoplasty (PKP) in Irish patients with congenital hereditary endothelial dystrophy (CHED). METHODS: A retrospective case series review of patients with CHED who underwent PKP was conducted. The outcomes of PKP in 14 patients with CHED at the Royal Victoria Eye and Ear Hospital in Dublin from 1978 to 2013 were described following case note review. The main outcome measures were best-corrected visual acuity (BCVA) and graft survival. RESULTS: Thirty-three corneal transplants were performed, which included 32 PKPs and one Descemet's stripping endothelial keratoplasty. Twenty-four eyes underwent primary corneal grafts and nine eyes had regrafts. The graft survival rates at final follow-up were 37.5% and 33% in the primary graft and regraft groups, respectively. Preoperative BCVA was 20/200 or worse in all patients. At the final postoperative visit, the BCVA was 20/80 or better in four eyes following primary PKP, 20/160 in one eye following regrafting and was 20/200 or worse in all other eyes. The mean time to graft failure was 16 months (range 0-37 months). The mean follow-up time was 101 months (range 12-252 months). Fifty per cent of the patients continue to attend for follow-up. CONCLUSIONS: This study has demonstrated a poor outcome from PKP for CHED in this Irish cohort. This arises from a combination of dense amblyopia and a high risk of graft failure in the long term.

Corneal Abnormalities in Congenital Aniridia: Congenital Central Corneal Opacity Versus Aniridia-associated Keratopathy.

PURPOSE: To clinically characterize and compare 2 types of corneal abnormalities in patients with congenital aniridia: (1) congenital central corneal opacity from birth (CCO) and (2) aniridia-associated keratopathy (AAK) that develops progressively with age. DESIGN: Retrospective cohort study. METHODS: Medical records of Korean patients who were diagnosed with congenital aniridia at Seoul National University Hospital between 1991 and 2016 were reviewed. Prevalence of corneal abnormalities (CCO and AAK), other ocular and systemic comorbidities, severity of AAK depending on the age, logarithm of the minimum angle of resolution (logMAR) visual acuities, and types and results of surgical intervention were collected. RESULTS: Among a total of 275 eyes (138 patients), 13% (35 eyes, 20 patients) had CCO and 25% (68 eyes, 35 patients) developed AAK. The AAK became prominent at a mean of 21.6 years of age, and the severity progressed with age. Glaucoma was more prevalent in aniridia patients with CCO (74%), compared to those with AAK (37%) (P = .0003). Cataract frequently occurred in patients with AAK (78%), who required cataract surgeries at mean 26.6 years. The logMAR visual acuity was worse in patients with CCO (2.04 ± 0.71) than in those with AAK (1.29 ± 0.62) (P < .0001). Penetrating keratoplasty was performed in 6 eyes with CCO, and the graft survival was 33.3% during mean 45 months of follow-up (range 14-79 months). CONCLUSIONS: In total, 13% of aniridia patients had CCO at birth, while 25% progressively developed clinically significant AAK with age. The visual outcome was worse in patients with CCO than in those with AAK.

Congenital anterior staphyloma associated with Peters' anomaly and aphakia in a Holstein calf.

A Holstein calf was born with a large protruding right eye and a central corneal opacity. Enucleation was the first choice of treatment. The calf had a good prognosis and was raised for milking purposes. Macroscopically, the enucleated eye was characterized by the protruded cornea, adherence of the iris to the central posterior cornea and aphakia. Microscopically, central corneal thickening and a defect in the endothelium and Descemet's membrane were observed. These data suggest that this represents a case of unilateral anterior segment dysgenesis consistent with congenital corneal staphyloma with Peters' anomaly and aphakia. Neither a mutation of the WFDC1 gene in multiple ocular defects nor any other identifiable cause for ocular anomalies was detected.

Scleral tunnel phacoemulsification: Approach for eyes with severe microcornea.

Cataract surgery in eyes with microcornea is associated with frequent complications such as corneal edema, posterior capsular rent, and risk of unplanned aphakia. We describe an improved surgical technique for the creation of surgical incisions during phacoemulsification in eyes with cataract associated with microcornea. A retrospective analysis of eight patients (8 eyes) operated at our center was undertaken. The mean age of the patients was 29.5 ± 10.9 years. All eyes were operated using the scleral pocket incision for phacoemulsification. This scleral pocket incision was tangential to the limbus and created approximately 2.5 mm behind limbus through which phacoemulsification probe was inserted. Because of the posterior placement of incision, the anterior chamber crowding was minimized. There was no incidence of port-site peripheral corneal edema. Fifty percent eyes developed transient central corneal edema, the intraocular lens in bag was implanted in 5/8 eyes, and none developed Descemet's membrane detachment. Mean best-corrected visual acuity improved from 1.85 ± 0.38 logarithm of minimum angle of resolution (LogMAR) to 1.26 ± 0.70 LogMAR postoperatively (P = 0.01; paired t-test). Posterior incision placement during phacoemulsification in microcornea helps achieve favorable postoperative outcomes in contrast to outcomes using clear corneal approach described in literature.

Ultrasonographic characteristics of congenital corneal staphyloma.

This case report describes the ultrasonographic characteristics of congenital corneal staphyloma (CCS) in a neonate on the birth day, with a massively staphylomatous and ectatic left cornea, which was forward protrusive between the eyelids. Ultrasound biomicroscopy (UBM) revealed the cornea of the left eye as thin and ectatic, with an irregular contour and unidentified layers. The anterior chamber was extraordinarily deep. Apart from histology, UBM can be used for understanding the microstructure of the anterior ocular segment, which may directly guide the diagnosis of CCS in a timely manner.

Corneal neurotization from the supratrochlear nerve with sural nerve grafts: a minimally invasive approach.

Corneal anesthesia is a debilitating condition which can ultimately lead to blindness from repetitive corneal injury and scarring. We have developed a minimally invasive technique for corneal re-innervation that we have used with excellent results in ten eyes. This article and accompanying video describes the relevant anatomy and demonstrates the technique in detail.