Episcleral Apocrine Hidrocystoma Following Strabismus Surgery.

Apocrine hidrocystomas are benign cystic tumors derived from apocrine sweat glands; they are most commonly located in the skin of the head and neck regions. Ophthalmic occurrences typically appear at the lash line and canthi of the eyelid, although rare instances have been described in the conjunctiva, caruncle, and orbit. The authors illustrate an exceptional instance of a mobile episcleral cyst in a 12-year-old girl that developed about 2 years following strabismus surgery. The cyst was located anterior to the insertion of the left medial rectus and was excised in response to the patient's complaints of irritation. Histopathology of the excised specimen displayed an empty cyst lined by a double layer of cuboidal epithelium with the inner layer exhibiting apical decapitation secretion. Confirmatory immunohistochemistry demonstrated reactivity of both layers with CK7 and the outer myoepithelial layer with D2-40. Postoperative and traumatic cysts formed after interruption of the bulbar conjunctiva are usually conjunctival cysts lined by stratified squamous nonkeratinizing epithelium.

Sacral protuberance with cleft lip and palate: Prenatal presentation of 3MC syndrome.

3MC syndromes are rare heterogeneous autosomal recessive conditions previously designated as Mingarelli, Malpuech, Michels, and Carnevale syndromes, characterized by dysmorphic facial features, facial clefts, growth restriction, and intellectual disability. 3MC is secondary to mutations in the MASP1, MASP3, COLEC11, and COLEC10 genes. The number of patients with 3MC syndrome with known mutations in the COLEC11 or MASP1 is, to date, less than 50. At the time this case presented (2015), the only gene identified in Online Mendelian Inheritance in Man to be associated with 3MC syndrome was MASP1. We present, to the best of our knowledge, the first prenatal report of 3MC syndrome, secondary to a homozygous variant in MASP1. Fetal findings included bilateral cleft lip and palate, abnormality of the sacral spine, a right echogenic pelvic kidney, and brachycephaly. 3MC syndrome should be considered as part of the differential diagnosis when fetal ultrasound detects facial clefts and spinal defects, as the risk of recurrence is significant and a molecularly confirmed diagnosis allows for alternate reproductive options.

Normal Topography and Binocularity of the Superior Colliculus in Strabismus.

In subjects with alternating strabismus, either eye can be used to saccade to visual targets. The brain must calculate the correct vector for each saccade, which will depend on the eye chosen to make it. The superior colliculus, a major midbrain center for saccade generation, was examined to determine whether the maps serving each eye were shifted to compensate for strabismus. Alternating exotropia was induced in two male macaques at age 1 month by sectioning the tendons of the medial recti. Once the animals grew to maturity, they were trained to fixate targets with either eye. Receptive fields were mapped in the superior colliculus using a sparse noise stimulus while the monkeys alternated fixation. For some neurons, sparse noise was presented dichoptically to probe for anomalous retinal correspondence. After recordings, microstimulation was applied to compare sensory and motor maps. The data showed that receptive fields were offset in position by the ocular deviation, but otherwise remained aligned. In one animal, the left eye's coordinates were rotated ∼20° clockwise with respect to those of the right eye. This was explained by a corresponding cyclorotation of the ocular fundi, which produced an A-pattern deviation. Microstimulation drove the eyes accurately to the site of receptive fields, as in normal animals. Single-cell recordings uncovered no evidence for anomalous retinal correspondence. Despite strabismus, neurons remained responsive to stimulation of either eye. Misalignment of the eyes early in life does not alter the organization of topographic maps or disrupt binocular convergence in the superior colliculus.SIGNIFICANCE STATEMENT Patients with strabismus are able to make rapid eye movements, known as saccades, toward visual targets almost as gracefully as subjects with normal binocular alignment. They can even exercise the option of using the right eye or the left eye. It is unknown how the brain measures the degree of ocular misalignment and uses it to compute the appropriate saccade for either eye. The obvious place to investigate is the superior colliculus, a midbrain oculomotor center responsible for the generation of saccades. Here, we report the first experiments in the superior colliculus of awake primates with strabismus using a combination of single-cell recordings and microstimulation to explore the organization of its topographic maps.

A commonly occurring genetic variant within the NPLOC4-TSPAN10-PDE6G gene cluster is associated with the risk of strabismus.

Strabismus refers to an abnormal alignment of the eyes leading to the loss of central binocular vision. Concomitant strabismus occurs when the angle of deviation is constant in all positions of gaze and often manifests in early childhood when it is considered to be a neurodevelopmental disorder of the visual system. As such, it is inherited as a complex genetic trait, affecting 2-4% of the population. A genome-wide association study (GWAS) for self-reported strabismus (1345 cases and 65,349 controls from UK Biobank) revealed a single genome-wide significant locus on chromosome 17q25. Approximately 20 variants across the NPLOC4-TSPAN10-PDE6G gene cluster and in almost perfect linkage disequilibrium (LD) were most strongly associated (lead variant: rs75078292, OR = 1.26, p = 2.24E-08). A recessive model provided a better fit to the data than an additive model. Association with strabismus was independent of refractive error, and the degree of association with strabismus was minimally attenuated after adjustment for amblyopia. The association with strabismus was replicated in an independent cohort of clinician-diagnosed children aged 7 years old (116 cases and 5084 controls; OR = 1.85, p = 0.009). The associated variants included 2 strong candidate causal variants predicted to have functional effects: rs6420484, which substitutes tyrosine for a conserved cysteine (C177Y) in the TSPAN10 gene, and a 4-bp deletion variant, rs397693108, predicted to cause a frameshift in TSPAN10. The population-attributable risk for the locus was approximately 8.4%, indicating an important role in conferring susceptibility to strabismus.

Ultrastructural changes of extraocular muscles in strabismus patients.

Strabismus is an ocular disorder characterized by partial or complete inability to keep eye alignment. It represents a very common ocular problem at ophthalmology clinics worldwide. The current study aimed to show the most encountered ultrastructural changes in extraocular muscles (EOMs) collected from patients with different forms of strabismus. Nine specimens of EOMs were collected from five patients during strabismus correction surgery and processed for light and electron microscopy examinations. Histologically, skeletal muscle fibers in normal EOMs appeared tight and normally arranged with clear striations. In strabismic muscles, the fibers appeared disarranged, and atrophied, swollen and disintegrated in some situations. By transmission electron microscopy, normal EOMs were formed of skeletal muscle fibers with intact basal membrane and sarcolemma, tightly aligned myofibrils with well-arranged sarcomeres, Z line and H zone, and normally distributed mitochondria. On the other hand, strabismic EOMs revealed vacuolation and degeneration of myofibrils, accumulation of lipid droplets, subsarcolemmal inclusions and clustering of mitochondria. EOMs obtained from a Down syndrome patient with V-pattern infantile esotropia showed extensive vacuolation and disintegration of myofibrils, and extra- and intracellular deposition of collagen fibers. Interestingly, some skeletal muscle cells exhibited features of autophagic cell death with a trial of engulfing process by neighboring cells. In conclusion, our study traces some characteristic ultrastructural changes in strabismic EOMs, most notably, extensive vacuolation, clustering of mitochondria, degeneration of myofibrils and autophagic changes. These changes might be emphasized as possibly secondary to strabismus.

Measurement of Medial Wall Bowing and Clinical Associations in Thyroid Eye Disease.

PURPOSE: To propose and validate a measure of medial wall bowing in thyroid eye disease (TED) and to assess the clinical correlates of bowing in TED. METHODS: In this cross-sectional cohort study, all patients affected with TED seen by a single specialist over a 2-year period were screened for study entry. Eligible participants were adults with clinical evidence of TED and either CT or MRI of the orbits. Exclusion criteria included prior history of decompression surgery and/or medical or other ophthalmic conditions that could alter the orbital anatomy. The primary outcome measure was prevalence of medial wall bowing. Secondary outcomes included the associations between medial wall bowing and exophthalmometry, diplopia, rectus muscle restriction, dysthyroid optic neuropathy (DON), strabismus, and quality of life. Medial wall bowing was defined as medial divergence of the medial wall from a straight line drawn between the anterior lacrimal crest and the middle of the optic canal and measured radiographically using axial images of the orbits. Volumetric analysis of bowing was performed on a sample of orbits with and without bowing. Volumetric and axial single slice measurements were compared. Bivariate statistics were performed. RESULTS: The final sample included 112 orbital images from 56 patients with TED. Medial wall bowing was found to be evident in 11.6% (n = 13/112) of orbits. Medial wall bowing was significantly associated with greater Hertel measurements, horizontal and vertical muscle restriction, ocular surface symptoms and Clinical Activity Score, as well as lower quality of life scores. Patients with demonstrable medial wall bowing were more likely to be affected by optic neuropathy, diplopia (Gorman score ≥ 1), strabismus, or horizontal muscle restriction. Analysis of the volume for medial wall bowing demonstrated that the height of the arc at the peak of bowing on an axial image of a 2-dimensional CT scan correlated highly with the total volume of bowing (r = 0.90, p < 0.001). CONCLUSIONS: The identification of medial wall bowing on CT or MRI is associated with clinical measures of disease severity, including diplopia and DON.

Bilateral optic disc pathologies as an accompanying feature of comitant strabismus in children.

PURPOSE: To describe and report accompanying bilateral optic disc pathologies in children with comitant strabismus. METHODS: Twenty-eight patients (16 female, 12 male) aged between 1 and 12 years who had comitant strabismus and bilateral optic disc pathologies were included in the study. Visual acuity, refractive errors, amount of deviation and types of optic disc pathologies were all recorded. Each patient underwent complete neurological and ophthalmological examination. RESULTS: Of the 28 patients, 14 (50.0%) had esotropia and 14 (50.0%) had exotropia. The mean age was 4.18 ± 3.03 years. The mean deviation angle was 35.30 ± 13.26 prism diopters (PD) (20-70 PD). Optic atrophy as being the most common pathology was found in nine (32.1%) patients. Six (21.4%) patients had temporal disc pallor, six (21.4%) patients had optic nerve hypoplasia, and seven (25%) patients had other optic disc anomalies (tilted disc, megalodisc, disc coloboma, peripapillary staphyloma). Optic disc pathologies were found to be isolated in 12 patients. Nine of 13 patients with congenital optic disc pathologies had esotropia, whereas 10 of 15 patients with optic atrophy or optic disc pallor had exotropia. CONCLUSION: Comitant strabismus in children can be associated with congenital or acquired optic disc pathologies. It is worthy of note that esotropia was more common in patients with congenital optic disc pathologies, whereas exotropia was more frequent in patients with optic atrophy or optic disc pallor. The findings of the present study show that complete ophthalmological examination including fundus evaluation should be carried out in all patients with strabismus even though the cause of ocular misalignment is obvious.

Mosaicism in ATP1A3-related disorders: not just a theoretical risk.

Mutations in ATP1A3 are involved in a large spectrum of neurological disorders, including rapid onset dystonia parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS), with recent descriptions of overlapping phenotypes. In AHC, a few familial cases of autosomal dominant inheritance have been reported, along with cases of de novo sporadic mutations. In contrast, autosomal dominant inheritance has frequently been associated with RDP and CAPOS. Here, we report on two unrelated sets of full siblings with ATP1A3 mutations, (c.2116G>A) p. Gly706Arg in the first family, and (c.2266C>T) p. Arg756Cys in the second family, presenting with familial recurrence of the disease. Both families displayed parental germline mosaicism. In the first family, the brother and sister presented with severe intellectual deficiency, early onset pharmacoresistant epilepsy, ataxia, and autistic features. In the second family, both sisters demonstrated severe encephalopathy with ataxia and dystonia following a regression episode during a febrile episode during infancy. To our knowledge, mosaicism has not previously been reported in ATP1A3-related disorders. This report, therefore, provides evidence that germline mosaicism for ATP1A3 mutations is a likely explanation for familial recurrence and should be considered during recurrence risk counseling for families of children with ATP1A3-related disorders.

[Ultrastructural alteration of extraocular muscle proprioceptor in congenital idiopathic nystagmus].

Objective: To explore the ultrastructural alteration of extraocular muscle proprioceptor in congenital idiopathic nystagmus (CIN). Methods: Case-control study. Ten extraocular muscle samples were collected from five CIN children who underwent nystagmus surgeries in Beijing Children's Hospital from March 2015 to March 2016. Another ten extraocular muscle specimens were collected from five strabismus children in surgery at the same period as normal contrast. There were 3 male patients and 2 female patients of CIN with age of 61-147 months (median age: 91 months). The ultrastructure of extraocular muscle proprioceptors was compared between these two groups by transmission electron microscope. Results: Twenty-three proprioceptors were found in extraocular muscle specimens of CIN children, whereas thirty-three proprioceptors were detected in strabismus children. The ultrastructure of extraocular muscle proprioceptor of CIN altered greatly comparing with that of the control. Fourteen extraocular muscle proprioceptors of CIN were discovered much smaller and vacuolated not only at inner capsules but also at the space between inner and outer capsules with lipofuscins and myeloid bodies in the intrafusal muscle fibers. Sensory nerve fibers degenerated greatly with a lot of lipofuscins and myeloid bodies in these sensory nerve fibers. Demyelination also appeared in some severe cases. Nine extraocular muscle proprioceptors of CIN showed significant dissolving degeneration of myofibrils and proliferation of collagen fibrils. The normal structures could not be distinguished in these proprioceptors. And these structural disorders also appeared in extrafusal muscle fibers and nerve endings. Conclusion: The ultrastructure of extraocular muscle proprioceptor in CIN turned much smaller and had significantly structural disorder.(Chin J Ophthalmol, 2017, 53: 136-139).

Normal correspondence of tectal maps for saccadic eye movements in strabismus.

The superior colliculus is a major brain stem structure for the production of saccadic eye movements. Electrical stimulation at any given point in the motor map generates saccades of defined amplitude and direction. It is unknown how this saccade map is affected by strabismus. Three macaques were raised with exotropia, an outwards ocular deviation, by detaching the medial rectus tendon in each eye at age 1 mo. The animals were able to make saccades to targets with either eye and appeared to alternate fixation freely. To probe the organization of the superior colliculus, microstimulation was applied at multiple sites, with the animals either free-viewing or fixating a target. On average, microstimulation drove nearly conjugate saccades, similar in both amplitude and direction but separated by the ocular deviation. Two monkeys showed a pattern deviation, characterized by a systematic change in the relative position of the two eyes with certain changes in gaze angle. These animals' saccades were slightly different for the right eye and left eye in their amplitude or direction. The differences were consistent with the animals' underlying pattern deviation, measured during static fixation and smooth pursuit. The tectal map for saccade generation appears to be normal in strabismus, but saccades may be affected by changes in the strabismic deviation that occur with different gaze angles.

Contrasting effects of strabismic amblyopia on metabolic activity in superficial and deep layers of striate cortex.

To probe the mechanism of visual suppression, we have raised macaques with strabismus by disinserting the medial rectus muscle in each eye at 1 mo of age. Typically, this operation produces a comitant, alternating exotropia with normal acuity in each eye. Here we describe an unusual occurrence: the development of severe amblyopia in one eye of a monkey after induction of exotropia. Shortly after surgery, the animal demonstrated a strong fixation preference for the left eye, with apparent suppression of the right eye. Later, behavioral testing showed inability to track or to saccade to targets with the right eye. With the left eye occluded, the animal demonstrated no visually guided behavior. Optokinetic nystagmus was absent in the right eye. Metabolic activity in striate cortex was assessed by processing the tissue for cytochrome oxidase (CO). Amblyopia caused loss of CO in one eye's rows of patches, presumably those serving the blind eye. Layers 4A and 4B showed columns of reduced CO, in register with pale rows of patches in layer 2/3. Layers 4C, 5, and 6 also showed columns of CO activity, but remarkably, comparison with more superficial layers showed a reversal in contrast. In other words, pale CO staining in layers 2/3, 4A, and 4B was aligned with dark CO staining in layers 4C, 5, and 6. No experimental intervention or deprivation paradigm has been reported previously to produce opposite effects on metabolic activity in layers 2/3, 4A, and 4B vs. layers 4C, 5, and 6 within a given eye's columns.

De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.

De novo mutations (DNM) in SYNGAP1, encoding Ras/Rap GTPase-activating protein SynGAP, have been reported in individuals with nonsyndromic intellectual disability (ID). We identified 10 previously unreported individuals with SYNGAP1 DNM; seven via the Deciphering Developmental Disorders (DDD) Study, one through clinical analysis for copy number variation and the remaining two (monozygotic twins) via a research multi-gene panel analysis. Seven of the nine heterozygous mutations are likely to result in loss-of-function (3 nonsense; 3 frameshift; 1 whole gene deletion). The remaining two mutations, one of which affected the monozygotic twins, were missense variants. Each individual carrying a DNM in SYNGAP1 had moderate-to-severe ID and 7/10 had epilepsy; typically myoclonic seizures, absences or drop attacks. 8/10 had hypotonia, 5/10 had significant constipation, 7/10 had wide-based/unsteady gait, 3/10 had strabismus, and 2/10 had significant hip dysplasia. A proportion of the affected individuals had a similar, myopathic facial appearance, with broad nasal bridge, relatively long nose and full lower lip vermilion. A distinctive behavioral phenotype was also observed with aggressive/challenging behavior and significant sleep problems being common. 7/10 individuals had MR imaging of the brain each of which was reported as normal. The clinical features of the individuals reported here show significant overlap with those associated with 6p21.3 microdeletions, confirming that haploinsufficiency for SYNGAP1 is responsible for both disorders. © 2015 Wiley Periodicals, Inc.

Dynamic exophthalmos and lateral strabismus in a dog caused by masticatory muscle myositis.

CASE DESCRIPTION: A 5.5-year-old neutered male mixed-breed dog was presented for evaluation of a 5-month history of deviation of the right globe upon opening the mouth and a 1-month history of conjunctivitis in the same eye. Clinical findings, diagnostic imaging results, treatment and follow-up are described. CLINICAL FINDINGS: When the mouth was opened, the right globe deviated rostrally and laterally. There was no pain or resistance to opening the mouth, or resistance to retropulsion of the globe. No other abnormalities were observed. Computed tomography was performed, revealing a contrast-enhancing region associated with the right masseter muscle impinging into the right orbit; this was more pronounced with the mouth open. Cytology revealed a small number of mildly to moderately atypical mesenchymal cells. Histopathology was consistent with polyphasic myositis, with a predominance of lymphocytes and plasma cells. No infectious agents were identified. Serum antibody titers for Toxoplasma gondii and Neospora caninum were negative. Serum titers for 2 M antibody were positive at 1:500, consistent with a diagnosis of masticatory muscle myositis. TREATMENT AND OUTCOME: Therapy with prednisone was initiated. During a follow-up period of 5 months, there was no recurrence of clinical signs, and the dose of prednisone was reduced by 25%. CLINICAL SIGNIFICANCE: To the authors' knowledge, this is the first reported case of masticatory muscle myositis causing dynamic exophthalmos and strabismus in a dog.

[Large hang-back recession of superior rectus muscles as effective treatment of patients with dissociated vertical deviation]. / Duza recesja miesni prostych górnych technika "hang-back" jako skuteczna metoda leczenia pacjentów ze zdysocjowanym odchyleniem pionowym.

PURPOSE: The aim of this study is to report the results of large bilateral superior rectus hang-back recession in patients with dissociated vertical deviation. MATERIAL AND METHODS: Retrospective analysis of patients with dissociated vertical deviation treated in the Department of Ophthalmology between 2011 and 2013. Our enrolment criteria included vertical strabismus angle over 15Δ and the absence of inferior or superior oblique overaction in patients who underwent bilateral superior rectus recession ranging from 8 mm to 12 mm. The surgical outcomes were evaluated. RESULTS: Nine patients at the age of 14 to 46 years were included in the study. The mean vertical angle of deviation in the non-dominant eye was 22.8Δ ± 5.3Δ. The mean amount of recession was 9.8 ± 1.4 mm. CONCLUSIONS: Large bilateral hang-back recession of the superior rectus muscles effectively reduces the vertical angle in patients with dissociated vertical deviation without concomitant oblique muscle overaction. dissociated vertical deviation (OVO), strabismus surgery, large recession of superior rectus muscles.

Maternal germline mosaicism of kinesin family member 21A (KIF21A) mutation causes complex phenotypes in a Chinese family with congenital fibrosis of the extraocular muscles.

PURPOSE: To identify the causative mutation with its possible origin in a Chinese family with congenital fibrosis of extraocular muscles type 1 (CFEOM1) and to characterize the ocular phenotypes and lesions in the corresponding intracranial nerves. METHODS: Three affected siblings and their asymptomatic parents underwent comprehensive ophthalmic examinations and neuropathologic analysis involving magnetic resonance imaging (MRI). KIF21A, PHOX2A, and TUBB3 genes were sequenced on the leukocyte-derived DNA to detect variants. The disease-linked haplotype was analyzed using four microsatellite markers across the KIF21A locus. RESULTS: All three affected individuals displayed typical CFEOM1. MRI revealed complicated but consistent neuromuscular abnormalities in the two patients examined, including hypoplastic oculomotor nerves, complete absence of bilateral superior rectus muscles, and unilateral absence of the abducens nerve with marked atrophy of the corresponding lateral rectus muscle. A heterozygous hotspot mutation KIF21A c.2860C>T was identified in all patients, but it was absent in both parents. Haplotype analysis of the disease locus showed the likely maternal inheritance of the disease-associated haplotype to all three affected offspring, strongly suggesting maternal germline mosaicism of the mutation. CONCLUSIONS: Germline mosaicism of KIF21A c.2860C>T is likely to cause the high occurrence of this mutation in the population. This information may be useful for genetic counseling. KIF21A mutations can affect the abducens nerve and cause complete absence of the bilateral superior rectus muscles. MRI characterization of new CFEOM1 phenotypes would assist clinical management.

[Macular thickness in unilateral amblyopia as measured by optical coherence tomography: a meta analysis].

OBJECTIVE: To offer a clue for the etiology of amblyopia by systematically comparing the macular thickness measured by optical coherence tomography (OCT) between the amblyopic eye and the fellow normal eye in patients with unilateral amblyopia. METHODS: Databases including Wanfang, PubMed and others were searched, and data were extracted after quality assessment, then the Meta analysis was performed by the RevMan 5.02 software. RESULTS: Four studies using the time-domain OCT (TD-OCT) were enrolled in the analysis and all those were anisometropic amblyopic patients. The only one study showed that the foveal minimum thickness is thicker in the amblyopic eyes than the fellow ones (P = 0.045). The meta analysis indicated the amblyopic eyes were 6.82 µm (P < 0.05, 95% CI: 2.81-10.83) thicker in the fovea (1 mm diameter region ). Five trials using the spectral-domain OCT (SD-OCT) were included in the analysis. It showed no significant difference in the foveal minimum thickness between amblyopic and fellow eyes. Also, no significant difference were detected in either anisometropic or strabismic subgroup (P = 0.50). Amblyopic eyes were 7.38 µm thicker in the fovea (1 mm diameter region) (P < 0.05, 95% CI: 3.13 -11.63) and significant difference in the anisometropic subgroup while no significant difference in the strabismic subgroup were detected. CONCLUSIONS: The macular fovea is thicker in the amblyopic eyes than the fellow ones by the use of OCT, so it is effective to measure the macular thickness of amblyopia in searching evidence for the etiology of amblyopia.

Peripheral hypertrophic subepithelial corneal degeneration: nomenclature, phenotypes, and long-term outcomes.

PURPOSE: To describe the long-term outcomes of peripheral hypertrophic subepithelial corneal degeneration. DESIGN: Retrospective case series. PARTICIPANTS: Twenty-two patients under the care of the External Disease Service, Moorfields Eye Hospital. METHODS: All patients matching clinical diagnostic criteria were included. Symptomatic patients were managed either conservatively or were offered superficial keratectomy in progressive cases where symptom control was inadequate. All excised tissue was examined histologically. MAIN OUTCOME MEASURES: Clinical phenotype, symptoms, recurrence rate after surgery, and histopathologic results. RESULTS: Twenty-two white patients (20 women and 2 men; age range, 27-88 years; median age, 42 years) had peripheral, usually bilateral (20/22 [91%]), elevated circumferential peripheral subepithelial corneal opacities and adjacent abnormal limbal vasculature, with or without pseudopterygia in 9 patients (41%), among whom 7 (32%) patients had bilateral disease. Apart from the abnormal vasculature, there were no signs of chronic ocular surface inflammation. Symptoms were ocular surface discomfort in 10 patients (45%), reduced vision in 4 patients (18%), and both of these in 5 patients (23%). Three patients (14%) were asymptomatic. There was no treatment in 6 patients (27%), topical lubricants in 8 patients (36%), spectacles in 1 patient (5%), and superficial keratectomy in 7 patients (32%; 5 bilateral), which was repeated for incomplete primary excision in 1 eye of 2 patients (9%) and for a bilateral recurrence in 1 patient (5%). Median follow-up after excision was 5 years (range, 1-11 years). Histopathologic changes were similar to those observed in pterygia (vascular component) and Salzmann's nodular degeneration (corneal component). CONCLUSIONS: Peripheral hypertrophic subepithelial corneal degeneration is an uncommon, usually bilateral, idiopathic disorder, occurring mostly in white women with a distinct phenotype. The condition was first described in 2003. Further cases among some patients have been described in more recent case series of Salzmann's nodular degeneration and diffuse keratoconjunctival proliferation, as well as in the previously described familial pterygoid corneal degeneration. Surgical excision was required in 30% of patients in this series, with infrequent short-term recurrences. The cause is uncertain. FINANCIAL DISCLOSURE(S): The author(s) have no proprietary or commercial interest in any materials discussed in this article.

Effect of inferior oblique myectomy on ocular torsion according to the absence of the trochlear nerve in unilateral congenital superior oblique palsy.

OBJECTIVES: To evaluate the effect of inferior oblique (IO) myectomy on ocular torsion according to the absence of the trochlear nerve in unilateral congenital superior oblique palsy (UCSOP). METHODS: We retrospectively reviewed the clinical data of patients who had been diagnosed with UCSOP and underwent ipsilateral IO myectomy (n = 43). Patients were classified into the present and absent groups according to the absence of the trochlear nerve and superior oblique hypoplasia on magnetic resonance imaging (MRI). For quantitative analysis of ocular torsion, disc-fovea angles (DFA) were collected in both eyes using fundus photographs taken within three months before surgery and one month after surgery. RESULTS: DFA of the paretic eye did not differ according to the absence of the trochlear nerve (9.4±5.6° in the present group vs. 11.0±5.4° in the absent group, p = 0.508). However, the present group had a larger DFA in the non-paretic eye than the absent group (14.1±6.7° in the present group vs. 8.0±5.0° in the absent group, p = 0.003). The change of ocular torsion after IO myectomy in the paretic eye was -5.3±3.7° in the present group and -4.8±3.5° in the absent group, respectively (p = 0.801). In the non-paretic eye, the change in DFA was -1.5±3.0° in the present group, which was larger than that in the absent group (0.7±2.6°, p = 0.047). In the multivariate analysis, the change in DFA was correlated with only the preoperative DFA (standardized ß = -0.617, p<0.001 in the paretic eye, and standardized ß = -0.517, p<0.001 in the non-paretic eye). CONCLUSIONS: In the paretic eye, there was no significant difference in the change of ocular torsion between both groups, whereas in the non-paretic eye, the present group had a larger change in DFA after IO myectomy than the absent group. However, in the multivariable analysis, the change in ocular torsion was significantly correlated with preoperative excyclotorsion but not with the presence of the trochlear nerve itself.

Combination of blood oxygen level-dependent functional magnetic resonance imaging and visual evoked potential recordings for abnormal visual cortex in two types of amblyopia.

PURPOSE: To elucidate the different neuromechanisms of subjects with strabismic and anisometropic amblyopia compared with normal vision subjects using blood oxygen level-dependent functional magnetic resonance imaging (BOLD-fMRI) and pattern-reversal visual evoked potential (PR-VEP). METHODS: Fifty-three subjects, age range seven to 12 years, diagnosed with strabismic amblyopia (17 cases), anisometropic amblyopia (20 cases), and normal vision (16 cases), were examined using the BOLD-fMRI and PR-VEP of UTAS-E3000 techniques. Cortical activation by binocular viewing of reversal checkerboard patterns was examined in terms of the calcarine region of interest (ROI)-based and spatial frequency-dependent analysis. The correlation of cortical activation in fMRI and the P(100) amplitude in VEP were analyzed using the SPSS 12.0 software package. RESULTS: In the BOLD-fMRI procedure, reduced areas and decreased activation levels were found in Brodmann area (BA) 17 and other extrastriate areas in subjects with amblyopia compared with the normal vision group. In general, the reduced areas mainly resided in the striate visual cortex in subjects with anisometropic amblyopia. In subjects with strabismic amblyopia, a more significant cortical impairment was found in bilateral BA 18 and BA 19 than that in subjects with anisometropic amblyopia. The activation by high-spatial-frequency stimuli was reduced in bilateral BA 18 and 19 as well as BA 17 in subjects with anisometropic amblyopia, whereas the activation was mainly reduced in BA 18 and BA 19 in subjects with strabismic amblyopia. These findings were further confirmed by the ROI-based analysis of BA 17. During spatial frequency-dependent VEP detection, subjects with anisometropic amblyopia had reduced sensitivity for high spatial frequency compared to subjects with strabismic amblyopia. The cortical activation in fMRI with the calcarine ROI-based analysis of BA 17 was significantly correlated with the P(100) amplitude in VEP recording. CONCLUSIONS: This study suggested that different types of amblyopia had different cortical responses and combinations of spatial frequency-dependent BOLD-fMRI with PR-VEP could differentiate among various kinds of amblyopia according to the different cortical responses. This study can supply new methods for amblyopia neurology study.