Horizontal Pendular Nystagmus Research Articles

A case of bilateral straatsma syndrome

Straatsma syndrome is characterized by a constellation of conditions including amblyopia, nystagmus, and myopia. We present the case of a 10-year-old boy who complained of involuntary back-and-forth eye movements and reduced vision since birth. His visual acuity was measured at 2/60 in both eyes. Examination revealed horizontal pendular nystagmus without ocular misalignment. Fundus examination showed myopic changes, including an anomalous optic disc with extensive myelinated nerve fibers extending from the optic disc along the superior and inferior arcades to the fovea. Axial length measurements were 28.34 mm and 27.96 mm in the right and left eyes, respectively. SD-OCT imaging confirmed thickening of the retinal nerve fiber layer. Treatment included cycloplegic refraction and occlusion therapy, with regular follow-ups every three months utilizing contact lenses with cycloplegic refraction. The etiology of retinal fiber myelination remains unclear; however, it is hypothesized that blurred retinal imaging during critical ocular development stages may lead to axial elongation and subsequent myopia, potentially delaying the development of the lamina cribrosa and facilitating myelination extension.

Oculocutaneous Albinism.

A 5-year-old Chinese girl presented intense photophobia and blurring vision from birth. Her uncorrected visual acuity was 20/200 for the right eye and 10/200 for the left eye. The best-corrected visual acuity was 30/200 and 20/200, respectively. Both eyes had horizontal pendular nystagmus. The iris of both eyes was diaphanous translucent. Retinal examination showed a lack of pigment, notably large choroidal vessels, and macular hypoplasia (Fig. 1). Optical coherence tomography results demonstrated an absence of the foveal pit and loss of usual thinning of macula. She also had white eyelashes and hypopigmentation of skin and hair (Supplementary Digital Content, Fig. 1, https://links.lww.com/APJO/A131). Her parents are cousins, and both had neither albinism nor other systematic or ocular diseases. Sunglasses were recommended to relieve the symptom of photophobia. Appropriate sunscreens and periodic inspection for early detection of skin cancer were advised.Figure 1: Color images of anterior segment indicated diaphanous translucent iris. The fundus images showed lack of pigment, notably large choroidal vessels, as well as macular hypoplasia for the retina of the patients.

Congenital aniridia- there's more than meets the eye

Congenital aniridia is a rare panocular disorder, leading to significant visual impairment which may present as an isolated ocular phenotype or in association with a systemic syndrome. We report the case of a 20-year-old female with congenital aniridia associated with ectopia lentis, horizontal pendular nystagmus, and foveal hypoplasia, leading to low vision subsequently limiting her social life. This case report highlights the importance of early intervention with low vision aids and focused rehabilitation to enhance the quality of life in individuals with congenital aniridia, thus preventing progression to permanent disability.

Posterior keratoconus in a patient with familial exudative vitreoretinopathy.

Posterior keratoconus is a rare nonprogressive noninflammatory condition unlike anterior keratoconus. It can be congenital or acquired, sporadic or familial, unilateral or bilateral. Bilateral sporadic posterior keratoconus is an extremely rare entity (as bilateral cases are predominantly familial). It is associated with many systemic and ocular features. Various posterior segment manifestations are described in association with posterior keratoconus. We describe a case of FEVR in the setting of bilateral sporadic posterior keratoconus. An occurrence was not reported previously. A 17-year-old male presented with gradual painless diminution of vision OU for 2 years and nystagmus since birth. There was no history of trauma or ocular surgery. Family history was noncontributory. Best-corrected visual acuity (BCVA) was 20/600 in OD and 20/1200 in OS. Deep-set eyeballs with horizontal pendular nystagmus of low frequency and low amplitude were noted. Slit-lamp examination revealed OU localized depression of posterior corneal curvature measuring 4 mm in diameter suggestive of posterior keratoconus [Fig. 1a and d], which was confirmed on anterior segment OCT [Fig. 1b and e]. Typical oil droplet reflex was noted on retro-illumination [Fig. 1c and f]. Rest of the anterior segment was normal in OU.Figure 1: (a-c) slit-lamp photograph of OD showing posterior keratoconus, anterior segment OCT of OD showing posterior keratoconus, clinical photograph in retroillumination. (d-f) slit-lamp photograph of OS showing posterior keratoconus, anterior segment OCT of OS showing posterior keratoconus, clinical photograph in retroilluminationDilated fundus examination of OU revealed small, tilted optic disc with gliotic changes on its surface. Old rhegmatogenous retinal detachment was seen along with multiple subretinal bands [Fig. 2a and b] in bilateral eyes. Tortuous retinal vessels with supernumerary branches ending short of equator were noted, leaving peripheral retina avascular. These findings were confirmed on UWFA [Fig. 2c and d]. In addition, peripheral lattice degeneration in temporal retina with multiple holes was observed OU. Based on clinical and diagnostic evidences, patient was diagnosed to be a case of both eye posterior keratoconus with associated FEVR and RD.Figure 2: (a and b) wide-field clinical photograph of fundus OD showing attached retina with temporal buckle indent with lattice with hole with temporal avascular retina, FFA showing temporal avascular retina. (c and d) wide-field clinical photograph of fundus of OS showing retinal detachment with subretinal band with temporal avascular retina, FFA showing temporal avascular retinaAfter informed consent, the patient underwent scleral buckling surgery in OU sequentially. One month postoperatively, BCVA improved to 20/120 in OD and 20/200 in OS with retina attached. The patient was advised regular follow-up. Discussion Posterior keratoconus is developmental in most cases and is due to anterior chamber cleavage anomaly.[1] Acquired causes, on the other hand, are rare and mostly post trauma.[2] There is constellation of posterior segment features quoted in the literature that can occur along with posterior keratoconus with undetermined genetic linkage.[345678] Our patient had a unique association of bilateral sporadic posterior keratoconus with FEVR, which to our knowledge never reported earlier. Atypical presentation of FEVR with associated retinal detachment and subtle posterior keratoconus makes our case a diagnostic challenge. To conclude, FEVR can occur in the setting of posterior keratoconus. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for his images and other clinical information to be reported in the journal. The patient understands that his name and initials will not be published and due efforts will be made to conceal his identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.

Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus.

Herein we present a consanguineous family with three children affected by foveal hypoplasia with infantile nystagmus, following an autosomal recessive mode of inheritance. The patients showed normal electroretinography responses, no signs of albinism, and no anterior segment or brain abnormalities. Upon whole exome sequencing, we identified a homozygous mutation (c.1861C>T;p.Q621*) in the aryl hydrocarbon receptor (AHR) gene that perfectly co-segregated with the disease in the larger family. AHR is a ligand-activated transcription factor that has been intensively studied in xenobiotic-induced toxicity. Further, it has been shown to play a physiological role under normal cellular conditions, such as in immunity, inflammatory response and neurogenesis. Notably, knockout of the Ahr gene in mouse impairs optic nerve myelin sheath formation and results in oculomotor deficits sharing many features with our patients: the eye movement disorder in Ahr-/- mice appears early in development and presents as conjugate horizontal pendular nystagmus. We therefore propose AHR to be a novel disease gene for a new, recessively inherited disorder in humans, characterized by infantile nystagmus and foveal hypoplasia.

Nystagmus as a Rare Presenting Symptom of Neuroborreliosis in a Child

This case report describes a previously healthy 4-year-old boy with neuroborreliosis who presented with a nystagmus of central origin and a right-sided peripheral facial palsy. Most common presentations in childhood are facial nerve palsy and aseptic meningitis. However, neuroborreliosis can present with nonspecific symptoms. A nystagmus as a presenting symptom of neuroborreliosis has never been described in medical Anglo Saxon literature before. The diagnosis of neuroborreliosis was confirmed by the following three criteria: (1) a lymphocytic pleiocytosis in the cerebrospinal fluid (CSF), (2) positive Borrelia burgdorferi -specific IgG and IgM in the CSF, and (3) an increased CSF to serum B. burgdorferi -specific antibody index, indicating intrathecal antibody production. The diagnostic workup of neuroborreliosis should always include CSF collection. Treatment with intravenous ceftriaxone was started early in the clinical course. Besides a very mild gaze-dependent horizontal pendular nystagmus, there was a complete resolution of symptoms without sequelae.

Visual deficits in Nepalese patients with oculocutaneous albinism

BackgroundAlbinism poses a significant threat to visual functions and causes remarkable ocular morbidity often resulting in visual disabilities. The study aimed at describing the visual status in patients with diagnosed cases of complete oculocutaneous albinism (OCA) attending to a tertiary eye hospital in Nepal. MethodsThis was a cross-sectional descriptive hospital-based study of all diagnosed oculocutaneous albinotic cases (16 males and 9 females; mean age of 16 years) who visited the Department of Ophthalmology at the Institute of Medicine, for ocular consultation between September 1, 2011 and December 1, 2013. ResultsTwenty-five cases (50 eyes) with OCA were enrolled in the study. All the participants had maximally reduced visual acuity (mean: 1.24±0.50logMAR). Myopic astigmatism was the most common refractive error (n=17; 34%). 58% of all participants had with-the-rule astigmatism.Considering the spherical equivalent power, most of the eyes (n=30; 60%) had myopia, with overall mean SE refractive error of −1.59±5.39D. Visual acuity improved significantly with refractive correction in place (paired sample t-test, p<0.05). Horizontal pendular nystagmus was the most common nystagmus (n=34 eyes; 68%). Alternating esotropia and alternating exotropia each were observed in 16% of participants who had strabismus (40% of all cases). The diaphanous iris, foveal hypoplasia and poliosis were the most consistent clinical features. ConclusionPatients with OCA present with a broad spectrum of visual deficits that impair the visual functions. Significant improvement in visual acuity following optical correction serves as an impetus to the reduction of visual disabilities in individuals with albinism.

Refractive errors, visual impairment, and the use of low-vision devices in albinism in Malawi.

This study focuses on the refractive implications of albinism in Malawi, which is mostly associated with the burden of visual impairment. The main goal was to describe the refractive errors and to analyze whether patients with albinism in Malawi, Sub-Saharan Africa, benefit from refraction. Age, sex, refractive data, uncorrected and best-corrected visual acuity (UCVA, BCVA), colour vision, contrast sensitivity, and the prescription of sunglasses and low vision devices were collected for a group of 120 albino individuals with oculocutaneous albinism (OCA). Refractive errors were evaluated objectively and subjectively by retinoscopy, and followed by cycloplegic refraction to reconfirm the results. Best-corrected visual acuity (BCVA) was also assessed binocularly. One hundred and twenty albino subjects were examined, ranging in age from 4 to 25 years (median 12 years), 71 (59 %) boys and 49 (41 %) girls. All exhibited horizontal pendular nystagmus. Mean visual acuity improved from 0.98 (0.33) logMAR to 0.77 (0.15) logMAR after refraction (p < 0.001). The best improvement of VA was achieved in patients with mild to moderate myopia. Patients with albinism who were hyperopic more than +1.5 D hardly improved from refraction. With the rule (WTR) astigmatism was more present (37.5 %) than against the rule (ATR) astigmatism (3.8 %). Patients with astigmatism less than 1.5 D improved in 15/32 of cases (47 %) by 2 lines or more. Patients with astigmatism equal to or more than 1.5 D in any axis improved in 26/54 of cases (48 %) by 2 lines or more. Refraction improves visual acuity of children with oculocutaneous albinism in a Sub-Saharan African population in Malawi. The mean improvement was 2 logMAR units.

Horizontal gaze palsy with progressive scoliosis in a Moroccan family

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare clinical condition characterized by a combination of horizontal gaze palsy, pendular nystagmus and scoliosis. Only a few cases have been previously described in the literature. Our observations serve to document the first cases in Morocco.

Ocular findings in two siblings with Joubert syndrome

We describe two brothers with Joubert syndrome (JS). JS diagnosis was made on the basis of neurological findings and the presence of the characteristic “molar tooth sign”, which was subsequently confirmed by magnetic resonance imaging. Both brothers demonstrated ptosis, hypotropia, exotropia, and horizontal pendular nystagmus. The younger brother had mild chorioretinal discoloration at the peripapillary region in both eyes, and a small coloboma at the inferior region of his right optic disc. The elder brother had coloboma in his right eye and a colobomatous optic disc in his left eye. Optical coherence tomography showed that the foveal architecture was preserved in both patients. We discuss the ocular findings, including those from optical coherence tomography, in JS, which has recently been recognized as ciliopathy.

Intracranial Pathology in Young Children With Apparently Isolated Nystagmus

To assess the incidence of intracranial pathology in young children who had brain magnetic resonance imaging (MRI) to investigate apparently isolated nystagmus noted within the first few years of life. Retrospective institutional review of such children (up to 5 years old). Twenty-six patients (17 boys, 9 girls) were identified. Nystagmus was clinically bilateral in 22 (85%) and unilateral in 4 (15%). Seventeen cases (65%) were described as horizontal pendular nystagmus, 5 (19%) as horizontal jerk nystagmus, 2 (8%) as vertical pendular nystagmus, and 1 each as downbeat nystagmus and torsional nystagmus (8%). Three of the 26 patients (12%) had significant MRI findings and all three had temporal optic nerve head pallor noted during clinical examination. Nystagmus was horizontal pendular in two patients and rotary in the third. The optic nerve head should be carefully assessed for signs of pallor in young children with nystagmus and, if present, brain MRI should be performed. Otherwise, isolated early childhood nystagmus is unlikely to be associated with intracranial pathology. Clinical description of nystagmus did not predict intracranial pathology in this cohort.

Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations

Background: To describe clinical and genetic observations in a patient with horizontal gaze palsy and progressive scoliosis (HGPPS) without identified mutations in the ROBO3 gene.Materials and Methods: Neurologic and orthopedic evaluation of the proband; sequencing all exons, exon-intron boundaries, and promoter region of ROBO3 in the proband and his mother. Array CGH was also carried out in the proband and his mother to evaluate possible chromosomal deletion(s) and/or duplication(s).Results: The proband had complete horizontal gaze restriction with full vertical gaze and small amplitude horizontal pendular nystagmus. He also had severe scoliosis and brainstem hypoplasia pathognomonic of HGPPS. However, complete sequencing of ROBO3 twice in both forward and reverse directions did not reveal any mutations. Array CGH investigation revealed no chromosomal abnormalities.Conclusions: This patient had clinical and neuroimaging characteristics considered pathognomonic of HGPPS and yet did not have ROBO3 mutations. A clinical misdiagnosis is unlikely in the absence of facial weakness (typical of Moebius syndrome), deafness (typical of the HOXA1 spectrum), or mental retardation (typical of other central decussation abnormalities). It is perhaps more likely that a phenotype identical to HGPPS can be caused by abnormalities in ROBO3 splice variant expression, by mutations of a gene other than ROBO3, or by some environmental or epigenetic factor(s) inhibiting the action of ROBO3 or its protein product in the developing brainstem.

Nightblindness-Associated Transient Tonic Downgaze (NATTD) in Infant Boys with Chin-Up Head Posture

Eleven infant boys presented with chin-up head posture, tonic downgaze and, on attempted upgaze, large-amplitude upward saccades with deceleration during the slow phase downward. The gaze-evoked upward saccades disappeared at the age of 2 or 3 years. In addition, they had high-frequency, small-amplitude horizontal pendular nystagmus that remained. Among these infant boys were 2 pairs of maternally related half-brothers, 2 cousins, and 2 siblings. Visual acuity ranged from 0.1 to 0.6, ERG-amplitudes (both A- and B-wave) were reduced, and severe myopia was found in 5 cases. Eight boys had CACNA1F mutations, and 1 boy had a NYX mutation, compatible with incomplete or complete congenital stationary nightblindness (iCSNB or cCSNB), respectively. This points to a defective synapse between the rod and the ON-bipolar cell causing the motility disorder: CACNA1F is located on the rod side of this synapse, whereas NYX is located on the side of the ON-bipolar cell. The coexistence of horizontal and vertical nystagmus has been previously described in dark-reared cats.

Visual-Motion Suppression in Congenital Pendular Nystagmus

Patients with a congenital pendular nystagmus are known not to experience oscillopsia in a normal visual environment. The data of a 31-year-old female patient suffering from a congenital pendular nystagmus are presented. The aim of the fluorodeoxyglucose positron emission tomography (FDG-PET) experiment was to analyze the regional cerebral glucose metabolism (rCGM) during minimal as well as maximal nystagmus. Video-oculography showed a maximum in frequency of the horizontal pendular nystagmus during gaze to the left, whereas the zone of minimal nystagmus was 10 degrees to the right. Two sessions with an 18F-fluorodeoxyglucose tracer were performed to analyze cerebral blood-glucose utilization when fixating an object in the areas of maximal and of minimal nystagmus. A structural MRI in a clinical 1.5-T scanner was acquired to superimpose the PET results onto the unique anatomy of the patient. By statistical analysis a significant increase in the rCGM in the cerebellar nodulus and a relative decrease in the area of MT/V5 bilaterally during maximal nystagmus were found. When the patient was looking in her null zone, rCGM was increased in V1 and MT/V5 bilaterally. To the best of the authors' knowledge, this is the first proof by means of functional imaging of a suppression of oscillopsia in higher-order visual cortex areas in a patient with a congenital nystagmus.

Horizontal Pendular Nystagmus in a Patient with Ocular Albinism

This 32-year-old woman with ocular albinism presented with a congenital horizontal pendular nystagmus. She had no cutaneous manifestations of albinism.

Extraocular Muscle Surgery for Nystagmus

&lt;h4&gt;EXCERPT&lt;/h4&gt; &lt;p&gt;&lt;b&gt;Wagner:&lt;/b&gt; A 9-year-old boy with tyrosinase-positive oculocutaneous albinism presents with best spectacle-corrected visual acuity of 20/80 in both eyes and a +2, -250 at 180° refraction that is symmetric in both eyes. He has a horizontal pendular nystagmus typical of oculocutaneous albinism, with no face turn or demonstrable null point or null zone. The parents want to know whether anything can be done surgically to reduce the nystagmus, and if so, whether it will improve his visual acuity. They have been told that he will never be able to drive, and they are hoping there may be a possible solution for this problem with surgery. Dr. Del Monte, how would you handle talking to the parents about this, and what can you offer the family?&lt;/p&gt; &lt;p&gt;&lt;b&gt;Del Monte:&lt;/b&gt; Certainly, you have to maximize the potential with standard means first. You have to make sure they have the correct refraction and double-check it with a repeat cycloplegic if you need to. Just because he has a poor macular formation and abnormal innervation of the optic nerve does not mean that he cannot have maximal potential, so you want to maximize that.&lt;/p&gt; &lt;p&gt;Assuming that you have done that, then of course you look for head positions. You mentioned there are not any, and that is another thing that is easy to work on and fix. Anyone older than 4 or 5 years is certainly a good candidate for those kinds of procedures, but this particular patient does fall into a group. I am not a big advocate of the large four-muscle recessions, and I have had no experience with the tenotomies. However, patients who have visual acuity near the driving vision range, from 20/70 to 20/100, are potentially candidates for large muscle recessions, and I have done it in a few of these patients.&lt;/p&gt; &lt;p&gt;Typically, the literature supports that you do not get more than a line or so of vision improvement. You do get cosmetic improvement in the amplitude of the nystagmus, so they do appreciate that, but you get only a line or so of improvement. A patient who has a 20/80 visual acuity potentially is one who could improve to 20/70 or 20/60 and get a driver’s license. That to me is one of the indications for that procedure, so I certainly would discuss that with the patient. However, there is a significant risk with that procedure of creating a strabismus, and I would have to warn them about that as well.&lt;/p&gt;

Paralysie du regard latéral et scoliose progressive : à propos de 4 familles tunisiennes

In 1975, Sharpe and Silversides described a neurological entity in a Chinese family. Clinical picture was characterized by paralysis of horizontal gaze, pendular nystagmus and progressive scoliosis. To date, 43 cases have been reported. The pathogenesis remains unclear. The Authors report four Tunisian families with 12 affected individuals. The age of patients ranges from 6 to 34 Years. All examined patients have complete lateral gaze palsy, pendular nystagmus and progressive scoliosis. Blood routine tests, cerebrospinal fluid (CSF), evoked potentials, electromyography (EMG), muscle biopsy, CT scan and cerebral MRI were normal. Autosomal recessive (AR) mode of inheritance is the most probable pattern.

Visual performance after congenital nystagmus surgery using extended hang back recession of the four horizontal rectus muscles.

To evaluate the results of surgical correction of congenital nystagmus based on the use of extensive recessions of the four horizontal rectus muscles. The outcome of this procedure in terms of visual performance of the patients has been analyzed in follow-ups of at least 1 year. Surgery was performed on 42 patients. An extended retroequatorial recession of the four horizontal rectus muscles was performed between 13 and 15 mm from the muscle insertion with hang back sutures in every case. Preoperatively, all cases showed either a horizontal pendular (4 cases) or jerk nystagmus (38 cases). After surgery, all cases showed full preservation of ductions in all gaze positions. Torticollis decreased in all cases. Binocular best-corrected vision improved in 19 (45.2%) patients and in the remaining 23 (54.8%) it remained unchanged. Consecutive exotropia was observed postoperatively in 7 patients. A second surgical procedure was performed in 9 cases (21.4%) and a botulinum injection in 3 cases (7%). All cases of diplopia resolved. Patient satisfaction was high in 38 cases (96%). Extended recession of horizontal rectus muscles using hang back sutures offers a good option for the surgical correction of sensorial and neuromuscular nystagmus, providing improvement in binocular best-corrected vision in 45% of the patients (21.4% more than 0.2 logMar units), a high satisfaction rate, and few associated complications. In patients with low vision this can be considered a success that may improve quality of life.

54th annual meeting of the American Academy of Neurology, Denver, Colorado, April 13-20, 2002.

54th annual meeting of the American Academy of Neurology, Denver, Colorado, April 13-20, 2002.

Best catch from NANOSNET.

Best catch from NANOSNET.