Oculocerebrocutaneous syndrome: a case report

There are many congenital ocular malformations associated with systemic findings. In cases such as oculocerebrocutaneous syndrome, the severity of systemic findings makes diagnosis particularly important. This case report presents a case of this uncommon syndrome and demonstrates the common findings.     

Sporadic Duane's Retraction Syndrome Associated with Imperforate Anus: Case Report

Duane's retraction syndrome is sometimes associated with developmental ocular and extraocular abnormalities. This disorder may also be present in association with specific malformative syndromes. The authors report the clinical features of a seven-year-old female affected by Duane's retraction syndrome (D.R.S.), rectoperineal fistula, imperforate anus and other congenital malformations. From two extensive reviews of 106 reports published before 1982 and from a search (using Medline 1981-1994) for reports of congenital malformations associated with this syndrome, no cases of sporadic D.R.S. associated with the perineal malformations mentioned were found, even though imperforate anus is considered the commoner of hindgut malformation.     

Nonophthalmic symptoms secondary to ocular torticollis from severe blepharoptosis: an underappreciated but treatable condition

The purpose of this case report is to describe reversible systemic symptoms associated with ocular torticollis due to blepharoptosis. A retrospective chart review identified patients with symptomatic ocular torticollis due to bilateral congenital or acquired blepharoptosis who underwent surgical correction (levator resection or frontalis sling). Preoperative and postoperative assessment of systemic symptoms in adults and developmental milestones are reported. The authors present 4 cases, 1 adult and 3 young children, all with severe bilateral upper eyelid ptosis. In the adult patient, it caused debilitating back pain that required orthopedic evaluation but was completely relieved with ptosis repair surgery. In the toddlers, subjective developmental motor delay was rapidly reversed following ptosis repair surgery. The authors suggest that primary care physicians, and spine and neuromuscular specialists, consider the possibility of ocular torticollis due to eyelid ptosis in the evaluation of patients with unexplained back and/or neck pain or with gross motor developmental delay. The authors propose that symptomatic ocular torticollis is an indication for ptosis repair.     

Goniodysgenesis associated with Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome is a constellation of clinical findings characterized by mental and motor retardation, broad thumbs and broad first toes, typical facies. Ocular and adnexal abnormalities are quite common and include antimongoloid slant of the palpebral fissures, epicanthal folds, congenital obstruction of the lacrimal excretory system, ptosis, strabismus, congenital cataract and congenital glaucoma. The authors describe the case of a 1-year-old male with the Rubinstein-Taybi syndrome associated with unilateral congenital glaucoma. The case emphasizes the importance of detailed complete ocular examinations in patients with Rubinstein-Taybi syndrome, and also highlights the occurrence of ocular abnormalities rarely associated with this disease.     

Congenital ptosis

Congenital blepharoptosis presents within the first year of life either in isolation or as a part of many different ocular or systemic disorders. Surgical repair is challenging, and recurrence necessitating more than one operation is not uncommon. Not all patients with congenital ptosis require surgery, but children with amblyopia due to astigmatic anisometropia or deprivation may benefit from early surgical correction. A variety of surgical procedures to correct congenital ptosis have been described. The choice of procedure depends on a number of patient-specific factors, such as degree of ptosis and levator function, as well as surgeon preference and resource availability. We review the genetics, associated syndromes, and surgical treatments of congenital ptosis.     

PHACE: a neurocutaneous syndrome with important ophthalmologic implications: case report and literature review.

OBJECTIVES: To introduce PHACE syndrome (Posterior fossa malformations, Hemangiomas, Arterial anomalies, Coarctation of the aorta and other cardiac defects, and Eye abnormalities) to the ophthalmologic literature; to report the first case of PHACE syndrome associated with congenital glaucoma; and to review the ocular and systemic findings that may occur in this entity. DESIGN: Case report and literature review. METHODS: The authors report a child with PHACE syndrome and congenital glaucoma and review the ophthalmologic and systemic manifestations of this syndrome. RESULTS: A 9-month-old girl with PHACE syndrome was treated. She had a large right facial hemangioma, central nervous system (CNS) abnormalities, and cardiac anomalies. Glaucoma was detected in her left eye, and she underwent glaucoma surgery. She did well following two glaucoma procedures, and the facial hemangioma is responding to medical treatment. CONCLUSIONS: Ophthalmologists who examine children with large facial hemangiomas should consider PHACE syndrome in the differential diagnosis and should obtain appropriate CNS imaging studies and cardiac evaluation when the diagnosis is suspected. Congenital glaucoma should be added to the list of PHACE-associated ocular anomalies.     

Congenital vertical ocular motor apraxia

The case of a 4 1/2-year-old boy with congenital vertical ocular motor apraxia who was otherwise developmentally and neurologically normal is reported. The presence of perinatal hypoxia in this patient may have been etiologic. While the presence of a supranuclear vertical ocular motor abnormality usually suggests a serious, acquired neurologic or systemic disease it may rarely occur as an isolated congenital finding, as demonstrated in this case.     

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.     

A New Syndrome Associated with Absence of Lower Lid Lacrimal Punctum,Ptosis, Elevation Deficiency of Both Eyes and Mild Facial Dysmorphism

A considerable volume of literature has been published on the association of lacrimal outflow dysgenesis with developmental anomalies or systemic syndromes. We report three affected individuals in a consanguineous family those are associated with bilateral ptosis, upper ocular movement limitation, and absence of the lacrimal punctum. T our knowledge, this is the first article reporting the association of bilateral ptosis, facial dysmorphism, upper ocular movement limitation, and absence of the lacrimal punctum in a hereditary form. As a sole example, these findings may be accepted as a new syndrome with autosomal recessive pattern because of consanguinity.     

Associated morbidity of pediatric ptosis — a large,community based case–control study

Purpose

To report the incidence, demographics, and associations of various conditions among patients with pediatric ptosis.

Methods

A retrospective, observational case–control study of patients (birth–18 years; n?=?2,408) diagnosed with pediatric ptosis in 1/2003–12/2012. Age- and gender-matched control patients (n?=?9,632) were randomly selected from the district members. Medical and socio-demographic information were extracted from electronic medical records.

Results

The average age of diagnosis was 5.6 years, and 1,325 (54 %) were male, with an incidence of 19.9/100,000. Systemic conditions significantly associated with pediatric ptosis include myasthenia gravis, congenital anomalies, deafness, mental retardation, muscular dystrophy, neurological diseases, epilepsy, schizophrenia, and malignancy. Ophthalmic conditions associated with pediatric ptosis include exotropia, progressive external ophthalmoplegia, hypotropia, esotropia, hyperopia, vertical heterophoria, intermitent esotropia, astigmatism, retinopathy, internuclear ophthalmoplegia, and myopia. Symptoms of diplopia, blurred vision, and aniseikonia were significantly more common.

Conclusion

Pediatric ptosis is associated with various systemic and ophthalmic conditions, and many are diagnosed after the age of 5 years. Clinicians should maintain a high degree of suspicion and thoroughly evaluate all patients with pediatric ptosis to properly assess underlying systemic associations. A better understanding of the patho-physiological association between these factors and pediatric ptosis may help its prevention and treatment.     

An analysis of conjunctival and periocular venous malformations: clinicopathologic and immunohistochemical features with a comparison of racemose and cirsoid lesions

Vascular tumors (in contrast to dilations or ectasias) of the conjunctiva and other adnexal tissues are rare, with no previous convincing example of a congenital, purely venous conjunctival malformation having been described. A 33-year-old man with a previously well-tolerated racemose conjunctival lesion present from birth developed bothersome symptoms when it underwent multifocal thrombosis with papillary endothelial cell hyperplasia as part of the process of thrombotic organization. Conservative subtotal excision with placement of an amniotic graft led to an acceptable cosmetic appearance, abatement of symptoms, and retention of full ocular function. Histopathologically, the lesion was composed of patulous vascular channels with thin walls displaying a negligible and irregular muscularis, diffuse supportive mural fibrosis, and the absence of an elastic lamina. Immunohistochemically the endothelial cells were CD31- and CD34-positive (vascular origin) but D2-40-negative (lymphatic origin). An associated neovascular capillary bed was not detected. Venous (racemose or grape-like) malformations should be distinguished from: arteriovenous (cirsoid or twisted) malformations in which the vessels possess thicker and more uniform muscular walls, some of which are endowed with an elastica; varices (hemorrhoidal dilations typically of a pre-existent vein); and venous angiomas (noncongenital lesions acquired in middle life) composed of regularly structured muscular channels devoid of an elastic lamina. Other conditions not to be confused with congenital venous malformations include hemorrhagic lymphangiectasia (of Leber), hemorrhagic lymphangiomas, and complex lymphaticovenous malformations.     

Ondine's Curse and rare oculomotor abnormalities: a case report

Ondine's Curse or congenital central hypoventilation syndrome (CCHS) is a neurocristopathy (failure of migration or differentiation of neural crest-derived precursor cells) and is characterized by hypoventilation or apnea, which is most pronounced during sleep, with no other abnormalities of the neuro-respiratory system. Because of respiratory distress soon after birth, patients must be intubated and ventilated for a long time. This disorder may be associated with other symptoms of neurocristopathy (Hirschsprung disease, neuroblastoma, neuroganglioma) and other abnormalities of the autonomic nervous system (vasomotor dysfunctions or ophthalmic abnormalities: abnormal pupils, insufficient convergence, strabismus, or ptosis). We report the original case of a CCHS patient who presented with alternative ptosis of both the right and left eyes and esotropia. The ocular findings should lead to earlier diagnosis and speedier adequate treatment.     

The congenital unilateral retinocephalic vascular malformation syndrome (bonnet-dechaume-blanc syndrome or wyburn-mason syndrome): review of the literature

Retinal arteriovenous malformations represent a rare syndrome in which a direct connection of major vessels without interposition of capillaries may lead to various complications such as thrombosis and vessel occlusion. This review comprises the computer-stored data of all the 121 patients with arteriovenous malformations described in the literature. Twenty-seven patients had typical Bonnet-Dechaume-Blanc syndrome (in this article designated as congenital retinocephalofacial vascular malformation syndrome), 25 had incomplete congenital retinocephalofacial vascular malformation syndrome (without facial skin lesions), 57 had isolated retinal arteriovenous malformations, and 12 had arteriovenous communications of the retina and distinct neurological signs, but without neuroradiological evidence of cerebral arteriovenous malformations (presumed cerebral arteriovenous malformations). Concerning the retinal findings, we found a distinct difference by comparing patients with congenital retinocephalofacial vascular malformation syndrome and those with isolated retinopathy without cerebral or facial malformations: extensive retinal malformations of vessels of most parts of the fundus occurred conspicuously more often in patients with retinal and cerebral arteriovenous malformations. In contrast, local retinal arteriovenous malformations occurred in all patients with isolated retinopathy without cerebral or facial malformations and rarely in patients with congenital retinocephalofacial vascular malformation syndrome. In conclusion, patients with arteriovenous communications of the retina should be examined early with brain and orbital neuroimaging to rule out cerebral arteriovenous malformations. Current therapeutic strategies include endovascular, surgical, and radiation procedures.     

The relationship between congenital hypertrophy of the retinal pigment epithelium (CHRPE) and germline mutations in the adenomatous polyposis coli (APC) gene

Mosaic trisomy 22 is rare, but can be compatible with prolonged life. Patients with mosaic trisomy 22 usually present with intrauterine growth retardation, mental retardation, failure to thrive, and craniofacial asymmetry. We report the case of a five-year-old boy who had a birth weight of 3.8kg and normal developmental milestones. He presented with unilateral ocular manifestations of ptosis, double elevator palsy, high myopia, and choroidal coloboma involving the macula. Cytogenetic evaluation showed a low level of trisomy 22 in peripheral blood lymphocytes (1 in 100) and in cultured fibroblasts from a conjunctival biopsy of the affected eye (1 in 60). Our case demonstrates the value of chromosomal analysis of the tissues involved rather than just karyotyping of the blood lymphocytes to detect mosaicism in patients with localised and unilateral congenital malformations.     

Ocular manifestations of mosaic trisomy 22: a case report and review of the literature

Mosaic trisomy 22 is rare, but can be compatible with prolonged life. Patients with mosaic trisomy 22 usually present with intrauterine growth retardation, mental retardation, failure to thrive, and craniofacial asymmetry. We report the case of a five-year-old boy who had a birth weight of 3.8 kg and normal developmental milestones. He presented with unilateral ocular manifestations of ptosis, double elevator palsy, high myopia, and choroidal coloboma involving the macula. Cytogenetic evaluation showed a low level of trisomy 22 in peripheral blood lymphocytes (1 in 100) and in cultured fibroblasts from a conjunctival biopsy of the affected eye (1 in 60). Our case demonstrates the value of chromosomal analysis of the tissues involved rather than just karyotyping of the blood lymphocytes to detect mosaicism in patients with localised and unilateral congenital malformations.     

Lens coloboma and associated ocular malformations

Purpose:Lens coloboma is a rare congenital disorder of crystalline lens characterized by notching of the equator of the lens.Coloboma can occur in isolation or with other ocular malformations. The authors reported 5 cases of lens coloboma associated with some ocular malformations. Methods:Case reports.The clinical features,imaging findings and associated ocular malformations were reported. Results:One case was not associated with ocular anomalies. One patient was involved with iris and choroid coloboma;another subject suffered from total cataract;and the fourth patient was affected by lens dislocation.The remaining case included aniridia. The pathogenic mechanisms and relationship of the ocular malformations have been discussed. Conclusion:Lens coloboma can be associated with other ocular malformations, such as iris coloboma, choroid colobma, localized or total caratact.     

A case of A-pattern esotropia with dissociated vertical deviation with bilateral congenital ptosis

Dissociated vertical deviation (DVD) is an enigmatic strabismus entity for which various theories of causation have been proposed. Commonly seen in association with infantile esotropia, it responds unpredictably to surgical intervention hence fuelling theories for a supranuclear center defect albeit at the midbrain level. Cases of DVD associated with A- pattern eso or exotropia and superior oblique overaction have been reported, although rarely. We report a case of bilateral congenital ptosis associated with this complex. Not reported earlier, we hope this case may help in better understanding of the obscure etiology of this symptom complex.     

Peters Anomaly in Twins: A Case Report of a Rare Incident with Novel Comorbidities

IntroductionPeters anomaly is a rare developmental malformation involving the anterior segment of the eye, which culminates in amblyopia or congenital blindness. Multiple ocular and/or systemic malformations have been observed with this anomaly, and novel comorbidities continue to be reported.ConclusionThe novel concordance of Peters anomaly in these monozygotic twins sharing a mutation in PROC gene provides further evidence that this anomaly has a genetic basis. Hypoplasia of the optic nerves and optic chiasm, along with severe protein C deficiency and bilateral absence of the pupils, are associated comorbidities that have not previously been reported with this anomaly.Key Words: Peters anomaly, Genetic basis, Comorbidities, Ocular abnormalities, Systemic malformation, Monozygotic twins     

Association of ocular, cervical, and cardiac malformations.

Association of ocular, cervical, and cardiac anomalies is discussed. A case with severe congenital heart disease, unusual Duane's retraction syndrome, classified here as atypical typical, and Klippel-Feil anomaly is described. To alert the physicians to such an association of congenital malformations and for nosological purposes this entity may be called oculo-cervico-cardiac syndrome. Importance of the association of heart and eye abnormalities is stressed and syndromes with associated ocular and cardiac anomalies are briefly discussed.     

Racemose hemangioma type 2: the first case report from the Middle East

Retinal arteriovenous malformations are rare and most are reported to be asymptomatic. We report an 11-year-old boy who attended for blunt trauma to his eye. The first ophthalmologic examination was performed in Nikookari Hospital Eye Emergency Room. Visual acuity was 20/20 and relative afferent pupillary defect was negative in both eyes. Ophthalmoscopic examination revealed multiple massive dilated retinal vessels in the superior arcade of the right eye. The arteriovenous malformation was not associated with exudation, hemorrhage or abnormal pigmentation. The left eye examination was unremarkable. We performed fluorescein angiography and brain magnetic resonance imaging (MRI). In the right eye fluorescein angiography, the malformation was not associated with leak or edema. The left eye fluorescein angiography was unremarkable. Brain MRI was unremarkable. After 16 months follow-up, there were no symptoms. This is the first case report from the Middle East region. To the best of our knowledge, retinal arteriovenous malformation has rarely been reported in children. Previously published literature suggests that these malformations may become complicated in time. Brain MRI is strongly recommended because of the possibility of Wyburn–Mason syndrome.