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PubMed2004

Eye abnormalities in Fryns syndrome.

Fryns syndrome is a rare, generally lethal, autosomal recessive multiple congenital anomaly (MCA) syndrome first described in 1979. Patients with the syndrome present with the classical findings of cloudy cornea, brain malformations, diaphragmatic defects, and distal limb deformities. Over 70 patients have been reported revealing a wide variety of phenotypic features. Although initially considered a major feature of Fryns syndrome, cloudy cornea has been relegated as a minor diagnostic sign and not commonly reported in patients since the original description. However, eye findings per se are not uncommon. Abnormal eye findings occasionally reported in Fryns syndrome potentially result in amblyopia and blindness, profoundly affecting neurologic outcome of those who survive the neonatal period. We reviewed 77 reported patients with Fryns syndrome and summarized the abnormal eye findings identified in 12 of the reported cases. In addition, we contribute three new patients with Fryns syndrome, one of which demonstrated unilateral microphthalmia and cloudy cornea.

Abnormalities, Multiple↗

PubMed2005

Ocular and systemic manifestations of PHACES (Posterior fossa malformations, Hemangiomas, Arterial anomalies, Cardiac defects and coarctation of the Aorta, Eye abnormalities, and Sternal abnormalities or ventral developmental defects) syndrome.

INTRODUCTION: PHACES syndrome (Posterior fossa malformations, Hemangiomas, Arterial anomalies, Cardiac defects and coarctation of the aorta, Eye abnormalities, and Sternal abnormalities or ventral developmental defects) is a rare neurocutaneous syndrome with only 2 case reports published in the ophthalmic literature. This study was conducted to identify ocular and systemic manifestations of PHACES syndrome. METHODS: A retrospective chart review was performed on 8 children with a diagnosis of PHACES syndrome. Information recorded included age at first visit, length of follow-up, gender, race, vision, need for glasses, strabismus, amblyopia, ptosis, proptosis, anterior and posterior segment abnormalities, need for treatment of the hemangioma, type of treatment of the hemangioma, and systemic manifestations. RESULTS: Periocular and ocular findings in patients with PHACES syndrome included hemangioma involving ocular structures (n = 6), strabismus (n = 4), amblyopia (n = 5), proptosis (n = 2), ptosis (n = 5), anterior polar cataract (n = 1), optic atrophy from optic neuropathy (n = 1), heterochromia (n = 1), and refractive error requiring glasses (n = 2). All patients were treated with steroids for the hemangioma. Systemic manifestations of PHACES syndrome included posterior fossa malformation (n = 4), hemangioma (n = 8), arterial anomalies (n = 3), cardiac abnormalities (n = 3), and sternal or ventral deformities (n = 3). CONCLUSION: Children with PHACES syndrome may have significant ocular and systemic abnormalities and are at increased risk for strabismus and amblyopia. They often require steroid therapy of the hemangioma to prevent and/or treat ocular complications. These patients require careful monitoring by a pediatric ophthalmologist in addition to other subspecialists.

Abnormalities, Multiple↗

PubMed2004

Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome.

We observed the occurrence of congenital nephrotic syndrome (CNS) and distinct ocular anomalies in two unrelated families. Eleven children from both families presented with a similar course of renal disease starting with nephrotic syndrome and renal failure prenatally or immediately after birth that resulted in death before the age of 2 months. Kidney histopathology showed diffuse mesangial sclerosis (DMS). Clinically obvious eye abnormalities were recognized in six of the eight patients in whom sufficient clinical data were available. Ocular anomalies included enlarged or large appearing corneae in some cases suggesting buphthalmos, and extremely narrow, nonreactive pupils (microcoria). Pathological examination of the eyes of two aborted fetuses revealed a more complex ocular maldevelopment including posterior lenticonus as well as anomalies of cornea and retina. On the basis of these observations and other cases in the literature, we delineate a previously unrecognized distinct entity characterized by congenital nephrotic syndrome, DMS, and eye abnormalities with microcoria as the leading clinical feature. Pedigrees of affected families with parental consanguinity support autosomal recessive inheritance. We propose that this syndrome should be designated microcoria-congenital nephrosis syndrome or Pierson syndrome. Possible overlap with Galloway-Mowat syndrome and relations to other oculo-renal syndromes are discussed.

Abnormalities, Multiple↗

PubMed2003

A Turkish case of subcortical/subependymal heterotopia associated with corpus callosum dysgenesis, craniofacial dysmorphism, severe eye abnormalities, and growth-mental retardation.

The patient is a 12-year-old boy with a history of learning disability, growth retardation, and strabismus. Weight, height and head circumference were below the 3rd percentile. A café-au-lait spot, 1x1 cm a diameter, on the back region and pectus excavatum deformity were diagnosed. He had facial asymmetry, a broad nose, sparse eyebrows and eyelashes, a rudimentary frontal sinus, deviation of the nasal septum, and bilateral small maxillary bones. The left orbital fossa was also mildly rudimentary. On eye examination the movements of the left globe to the upward and lateral side were limited and internal strabismus was noted at this side. Visual acuity was 1/10, bilaterally. Bilateral choroid coloboma, glaucoma, vertical and horizontal nystagmus were diagnosed. Fundoscopic examination revealed bilateral optic atrophy and macular and paramacular granulation tissues on the left side. Intelligence quotient was 46. Electroencephalography revealed bilateral frontal slow-wave activity. Visual evoked potential revealed prolonged p100 wave latencies bilaterally. Magnetic resonance imaging of the brain demonstrated corpus callosum dysgenesis, bilateral subcortical heterotopia in the frontal lobes and subependymal heterotopia in the posterior horn of the left ventricle. Chromosomal analysis revealed a normal male karyotype, 46, XY. Although several cases of heterotopia in association with mental retardation, craniofacial dysmorphism, cerebral, and eye abnormalities have been described the combination of abnormalities diagnosed in our case has not previously been reported. We hypothesize that the combination of subcortical/subependymal heterotopia, corpus callosum dysgenesis, craniofacial dysmorphism, severe eye abnormalities, and growth-mental retardation may be a new syndrome.

Abnormalities, Multiple↗

PubMedDate not supplied

Developmental eye abnormalities in mouse fetuses induced by retinoic acid.

To clarify the relationship between neural crest cells and various developmental eye abnormalities, pregnant mice were administered an intraperitoneal injection of 12.5 mg/kg retinoic acid (RA) suspended in corn oil on day 7 of pregnancy (RA group). Control mice received an equal volume of corn oil only (control group). The fetuses were removed by laparotomy on day 18 of gestation. The fetal mortality was 46.3% in the RA group and 2.2% in the control group. The live fetuses in both groups were observed grossly, and the eyes were examined histologically in serial sections. In the RA group, gross malformations were observed, including microphthalmos (95.5%), cleft lip and palate (36.4%), and central nervous system anomalies (31.8%). In the control group, these malformations were seen in only 6.7%, 0%, and 2.2%, respectively. Histologic examinations in the RA group revealed microphthalmos (47.7%), anophthalmos (38.6%), faulty closure of the embryonic fissure (36.4%), developmental abnormalities of the vitreous (34.1%), aphakia (22.7%), goniodysgenesis (18.2%), and faulty separation of the lens vesicle (15.9%). They were detected in only 3.3%, 1.1%, 3.3%, 8.9%, 1.l%, 2.2%, and 2.2%, respectively, of the control group. These developmental eye abnormalities arose from abnormal migration of neural crest cells.

Abnormalities, Drug-Induced↗

PubMed1998

[Critical time for developmental eye abnormalities induced by retinoic acid in mouse fetuses].

To identify the critical time for developmental eye abnormalities, pregnant C 57 BL/6 NJcl mice were injected intraperitoneally once with 12.5 mg/kg of retinoic acid on days 7 (day-7 group), 8 (day-8 group), 9 (day-9 group), 10 (day-10 group), and 11 (day-11 group) of pregnancy. Each group consisted of 5 pregnant mice. The fetuses were observed grossly on day 18 of gestation, and the eyes were examined histologically in serial sections. Various gross malformations such as microphthalmos, cleft lip and palate, and central nervous system anomalies were observed in the day-7 group. However, microphthalmos was the only gross malformation found in the day-8 group, and there were no gross malformations in the other 3 groups. The histological examination indicated that the critical time for anophthalmos was day 7 of gestation or earlier because of its appearance in the day-7 group alone. The critical time for microphthalmos, faulty closure of the embryonic fissure, aphakia, and faulty separation of the lens vesicle was day 8 of gestation or earlier considering their occurrence in both day 7 and day 8 groups, and the time for goniodysgenesis was day 9 of gestation or earlier because of its appearance in the day 7, day 8, and day 9 groups.

Animals↗

PubMed1997

Medical treatments for abnormal eye movements: pharmacological, optical and immunological strategies.

PURPOSE: To review current medical treatments for nystagmus and saccadic intrusions, and their visual consequences. METHODS: Evaluation of studies that have used reliable measurement of eye movements and visual acuity before and after treatment. Interpretation of results in light of physiological and pharmacological studies in animals, and recent immunological advances. RESULTS: There are many case reports of patients with abnormal eye movements being improved by a variety of drugs, but few double-blind, controlled studies have been carried out. Most promising are agents that mediate their effects through the neurotransmitter gamma-aminobutyric acid; such drugs include baclofen and gabapentin. Botulinum toxin, injected into selected extraocular muscles or the retrobulbar space, can abolish nystagmus for several months, but often produces troublesome side-effects, such as diplopia and ptosis, which limit its value. Optical measures to either reduce nystagmus by manipulating vergence angle, or reduce retinal image motion, help some patients. Opsoclonus occurring in association with cancer may be successfully treated with an immuno-adsorption technique using a protein A column. CONCLUSIONS: There is need for controlled, blinded studies to evaluate the many agents reported to improve visual symptoms in individual patients with abnormal eye movements.

Animals↗

PubMed2004

Ipsilateral hemangioma and aortic arch anomalies in posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta, and cardiac defects and eye abnormalities (PHACE) anomaly: report and review.

Posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta, and cardiac defects and eye abnormalities (PHACE) is a rare congenital anomaly with a broad spectrum of clinical manifestations with a striking female predominance. We describe an infant with PHACE anomaly and aortic coarctation who underwent cardiac catheterization to clearly define the complex anatomy of the aortic lesion before surgical repair. Review of the literature documents a highly significant association between ipsilateral hemangiomas and cerebrovascular and aortic arch anomalies. We conclude that cardiac catheterization is required to define the complex anatomy of aortic lesions and should be performed in all patients with PHACE and evident aortic involvement to plan appropriate and safe surgical repair.

Abnormalities, Multiple↗

PubMed1996

Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities.

Aniridia in man and Small eye in mice are semidominant developmental disorders caused by mutations within the paired box gene PAX6. Whereas heterozygotes suffer from iris hypoplasia, homozygous mice lack eyes and nasal cavities and exhibit brain abnormalities. To investigate the role of gene dosage in more detail, we have generated yeast artificial chromosome transgenic mice carrying the human PAX6 locus. When crossed onto the Small eye background, the transgene rescues the mutant phenotype. Strikingly, mice carrying multiple copies on a wild-type background show specific developmental abnormalities of the eye, but not of other tissues expressing the gene. Thus, at least five different eye phenotypes are associated with changes in PAX6 expression. We provide evidence that not only reduced, but also increased levels of transcriptional regulators can cause developmental defects.

Animals↗

PubMed2002

A new framework for investigating both normal and abnormal eye movements.

Any comprehensive framework for understanding eye movements has to include both normal and abnormal eye movement behaviour. One approach which is applicable to the entire range of oculomotor behaviour is provided by the techniques of nonlinear dynamics. The stability of models of the oculomotor system can be analysed in terms of the characteristics of their fixed points and periodic orbits, and the method of delays can be used to recover such parameters from measurements of eye position. Within this framework, quantitative comparisons can be made between the predictions of different models, and both normal and clinical eye movement recordings.

Algorithms↗

PubMed1993

TGF alpha deficiency results in hair follicle and eye abnormalities in targeted and waved-1 mice.

To explore the physiological roles of transforming growth factor alpha (TGF alpha), we disrupted the mouse gene by homologous recombination in embryonic stem cells. Homozygous mutant mice were viable and fertile, but displayed pronounced waviness of the whiskers and fur, accompanied by abnormal curvature, disorientation, and misalignment of the hair follicles. Homozygous and, to a lesser extent, heterozygous mice displayed eye abnormalities of variable incidence and severity, including open eyelids at birth, reduced eyeball size, and superficial opacity. Histological examination revealed eyelid and anterior segment dysgenesis, corneal inflammation and scarring, and lens and retinal defects. Although TGF alpha deficiency affected skin and eyes, wound healing in these tissues was not impaired. Similar hair and eye defects have been previously associated with the recessive mutation waved-1 (wa-1), and Northern analysis revealed reduced expression of TGF alpha in wa-1 mice. Crosses between wa-1 homozygotes and TGF alpha-targeted mice confirmed that wa-1 and TGF alpha are allelic.

Alleles↗

PubMed2006

[LAMB2 gene mutation as a cause of congenital nephrotic syndrome with distinct eye abnormalities and hypotonia].

UNLABELLED: Mutations in the LAMB2 gene encoding laminin beta2, a component of the glomerular basement membrane and the neuro-muscular junction are responsible for the characteristic renal and eye abnormalities of Pierson syndrome. We report a girl with confirmed LAMB2 mutation who presented with early onset Congenital Nephrotic Syndrome (CNS) with renal failure and ocular findings of bilateral microcoria, persistent hyperplastic primary vitreous, right microphtalmia and left eye cataract. Automated peritoneal dialysis was started from the 3rd month of life. Severe muscle hypotonia with motor and mental delay were observed during the first year of life. She experienced numerous serious infections from birth and died at the age of 15 months due to a fulminant infection. Genetic studies revealed two novel mutations in LAMB2 gene (compound heterozygosity). CONCLUSIONS: 1. Mutations in LAMB2 gene should be included in the work-up of patients with CNS in the presence of eye anomalies. 2. Severe phenotypes of Pierson syndrome are associated with marked handicaps and a poor outcome.

Eye Abnormalities↗

PubMed1996

PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities.

BACKGROUND: Large facial hemangiomas can have associated central nervous system malformations, particularly the Dandy-Walker posterior fossa malformations. Abnormal arteries, especially those of the central nervous system, coarctation of the aorta, cardiac defects, and unusual ophthalmologic abnormalities can also occur. OBSERVATIONS: We describe two patients with large facial hemangioma, congenital cataracts, and structural arterial abnormalities, particularly of the central nervous system vasculature. One of these infants also had a Dandy-Walker malformation detected on prenatal ultrasound at 12 weeks' gestation, suggesting that this syndrome had its origin during the first trimester of pregnancy. This infant also had a lingual thyroid and developed symptomatic hypothyroidism, possible induced by interferon alfa therapy of her hemangioma. These cases are discussed, along with 41 previously reported cases with similar findings. CONCLUSIONS: Large facial hemangiomas may have a distinctive group of associated arterial, central nervous system, and ophthalmologic anomalies. We propose the acronym PHACE syndrome to emphasize the characteristic findings of this neurocutaneous syndrome: posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities.

Abnormalities, Multiple↗

PubMed1977

Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis.

A unique syndrome consisting of episodic hyperpnea, abnormal eye movements, ataxia and mental retardation, associated with agenesis of the cerebellar vermis, has been delineated in four siblings by Joubert et al. (1969). We describe three other children with this clinically recognizable condition which we suggest to call Joubert syndrome. There is good evidence that it is inherited as autosomal recessive. Two of out patients were brothers, the third child's parents were related. Recognition of this syndrome is important in view of prognosis and for genetic counseling.

Adolescent↗

PubMed2005

Abnormal eye movements predict disability in MS: two-year follow-up.

We conducted a two-year follow-up study of 40 patients with MS in whom we had reported that abnormal eye movements (AEM) were associated with greater general disability. AEM patients (17/40) remained significantly (p < .001) more disabled (median EDSS of 7.0) than those with normal eye movements (median EDSS of 5.0). AEM and great disability were associated with abnormal MRI signals in brainstem or cerebellum, where disease may involve control circuits for eye movements as well as descending motor pathways.

Adult↗

PubMed1993

Abnormal eye movements in Creutzfeldt-Jakob disease.

We report 3 patients with autopsy-proven Creutzfeldt-Jakob disease who, early in their course, developed abnormal eye movements that included periodic alternating nystagmus and slow vertical saccades. These findings suggested involvement of the cerebellar nodulus and uvula, and the brainstem reticular formation, respectively. Cerebellar ataxia was also an early manifestation and, in 1 patient, a frontal lobe brain biopsy was normal at a time when ocular motor and cerebellar signs were conspicuous. As the disease progressed, all saccades and quick phases of nystagmus were lost, but periodic alternating gaze deviation persisted. At autopsy, 2 of the 3 patients had pronounced involvement of the cerebellum, especially of the midline structures. Creutzfeldt-Jakob disease should be considered in patients with subacute progressive neurological disease when cognitive changes are overshadowed by ocular motor findings or ataxia.

Aged↗

PubMed1979

A darkness induced eye abnormality in the domestic chicken.

Two-hundred broiler-type chickens were reared under either normal lighting or darkness for 16 weeks. Each week, birds were subjected to applanation tonometry for measurement of intraocular pressures (IOP). The birds were then weighed, eye enucleated, and dimensions measured. All eyes were prepared for histological examination. Chickens reared in darkness for 4 to 6 weeks displayed an abnormal eye enlargement, accompanied by an increase in IOP in comparison to chickens reared under conventional management. From the 6th to the 16th week, the eyes of dark-reared chickens continued to enlarge while IOP decreased. The sclera, choroid, retina, and retinal layers of dark-reared chicks were not as thick as controls throughout the 16 weeks. Two principle retinal pathologies were induced by darkness. One appeared as darkened areas of the peripheral retina. In histological sections the darkened retinal areas had a thin choroid and thin retinal layers. The second retinal abnormality was one or more white, nonpigmented bands directed perpendicular to the pectin. Histologically, the depigmented bands were areas in which the vessels of the choroid, the pigmented epithelium, and the outer retinal layers were absent. The corneas of dark-reared chicks exhibited a reduction in their curvature and thickness compared to control corneas.

Aging↗

PubMedDate not supplied

Wavefront-guided treatment of abnormal eyes using the LADARVision platform.

PURPOSE: To evaluate the clinical results of Alcon LADARVision4000 wavefront-guided customized treatment of eyes with myopia and/or astigmatism, and clinically significant visual symptoms related to the presence of higher order aberrations. METHODS: Seven consecutive abnormal eyes from seven patients underwent wavefront-guided CustomCornea (1 PRK, 6 enhancements after previous LASIK) to correct low and higher order aberrations, using the Alcon LADARVision4000 platform. Eyes were examined at 1 to 3 months after treatment; the longest follow-up examination was used for analysis. Uncorrected and best spectacle-corrected visual acuity, manifest refractive spherical equivalent error, and subjective visual symptoms were measured, as well as wavefront measurement of higher order aberrations. RESULTS: All seven eyes had an improvement in UCVA. One eye gained 2 lines of BSCVA, four eyes gained 1 line, and no eye lost any lines. Manifest refractive spherical equivalent error was slightly hyperopic in all eyes (+0.12 to +1.50 D). All eyes showed a reduction in pre-existing higher order aberrations, ranging between 1% and 48%. Spherical aberration was reduced most (mean 38% reduction), coma was reduced by a mean 14%, and all other terms were reduced by a mean 17% compared to preoperative values. Subjectively, all patients noticed a reduction in their pre-existing visual symptoms and reported visual performance comparable to their fellow asymptomatic eye. Overall, the treatment was considered very satisfactory by patients in terms of visual quality gain. CONCLUSION: Wavefront-guided custom ablation with Alcon's LADARVision4000 was effective in reducing higher order aberrations and related visual symptoms in this preliminary small series. Longer follow-up on more eyes is necessary to assess the accuracy of the algorithm in the correction of defocus, which resulted in a slight overcorrection in this study.

Adult↗