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PubMed2002

Bilateral ocular malformations in a newborn with normal karyotype: histologic findings.

Microphthalmos with cyst is a rare condition characterized by a small globe and an inferior uveoretinal coloboma. There is also a defect in the posterior aspect of the eye through which a cyst lined by neuroectodermically derived tissue protrudes into the orbit. A case of isolated bilateral colobomatous and cystic microphthalmos is reported in an otherwise healthy child, showing no evidence of chromosomal abnormalities. Microscopic findings in the enucleated eye consisted of iris and retinal dysgenesis, ectopia lentis, persistent anterior tunica vasculosa lentis and pupillary membrane, intrachoroidal smooth muscle, and optic nerve hypoplasia. In the orbital cyst, a thick membrane reminiscent of the retinal inner limiting membrane lay between the fibroadipose and vascularised outer wall and the inner neuroectodermal lining.

Coloboma↗

PubMed1995

Colobomatous ocular cyst excision with globe preservation.

Colobomatous ocular cyst is a rare malformation consisting of a cavity lined by neuroectodermic tissue and communicating with the vitreous cavity, generally associated with microphthalmos. The usual treatment for unsightly cases is enucleation and cyst excision, followed by prosthesis fitting. The authors treated a case of colobomatous ocular cyst associated with a mild microphthalmos by cyst excision and pedicle ligature, via a transconjunctival orbitotomy. The postoperative appearance was satisfactory. Pathology confirmed a thick fibrous wall with calcifications, lymphocytic infiltrates, and neurofilaments and internally lined by dysplastic retinal elements. A conservative approach is advised for colobomatous cysts associated with a globe almost normally in size, in order to avoid cosmetic complications associated with enucleation in childhood.

Coloboma↗

PubMed1996

Advanced cicatricial retinopathy of prematurity--outcome and complications.

AIMS: To assess the outcome and complications of patients with advanced retinopathy of prematurity (ROP). METHODS: All patients with eyes achieving stage 4 or 5 retinopathy of prematurity were reviewed. Twenty one eyes were diagnosed during ROP screening in maternity hospitals and 10 eyes were of infants transferred for treatment. RESULTS: Thirty one eyes of 17 patients were included. Thirteen eyes were treated for acute disease but progressed to stage 4 or 5; seven had cryotherapy and six diode laser photocoagulation. Cataract was found in 17 eyes (54.8%), glaucoma in seven eyes (22.6%), microphthalmos in 15 (48.4%), and corneal opacification in four eyes (12.9%). Fifteen eyes had surgical procedures; two (6.5%) had trabeculectomy, four (12.9%) had lensectomy, and nine (29%) retinal detachment repair. Transferred infants had their initial eye examination later than infants in hospitals screened by the authors and 80% of them had progressed beyond threshold ROP by the time they were transferred for treatment. Twenty nine eyes (93.6%) had visual acuities of 3/60 or less and only two eyes (6.5%) achieved 6/18 or less. CONCLUSION: The visual outcome of the eyes undergoing retinal re-attachment surgery was disappointing. Cataract, microphthalmos, and glaucoma were the most frequent complications, and surgical intervention was often required. The need for children who are blind as a result of ROP to have long term follow up is shown.

Cataract↗

PubMed2003

Ocular findings in cerebro-oculo-facial-skeletal syndrome (Pena-Shokeir-II syndrome).

PURPOSE: To report the ocular findings in cerebro-oculo-facial-skeletal syndrome or Pena-Shokeir-II syndrome. METHODS: Case report. RESULTS: A five-month-old male infant presented with bilateral posterior polar cataract, microphthalmos, nystagmus, and marked non-glaucomatous optic nerve atrophy. Systemic abnormalities such as microcephaly, micrognathia, flexion contractures of the elbows and knees, hypotonic musculature, and failure to thrive, with pronounced statomotor retardation, led to the diagnosis of cerebro-oculo-facial-skeletal syndrome or Pena-Shokeir-II syndrome. Cataract surgery did not improve the poor visual performance. CONCLUSIONS: Cerebro-oculo-facial-skeletal syndrome (Pena-Shokeir-II syndrome) should be included in the differential diagnosis of bilateral microphthalmos, congenital cataract, nystagmus, and pronounced optic nerve atrophy, and cataract surgery does not markedly improve vision.

Abnormalities, Multiple↗

PubMedDate not supplied

Transvaginal sonographic diagnosis of cataract in a fetus.

Transvaginal ultrasonography is a relatively new technique for visualizing the orbits in a fetus of 4 to 5 cm. At fifteen weeks of gestation it is possible to recognize the lenses and the hyaloid arteries in the eyes, to diagnose structural malformations such as anophthalmos, microphthalmos, buphthalmos and moderate to severe cataract. In most cases cataracts were associated with intracranial defects. We describe a case where the sonographic diagnosis of fetal cataract was confirmed by histopathological examination. A 27-year-old woman had a routine transvaginal sonography at 15 weeks' normal gestation. Microphthalmos without a hyaloid artery and disorganization of the anterior chamber and lens consistent with cataract were demonstrated in the fetal left eye. In accordance with the parents' decision, the pregnancy was terminated a week later. Autopsy of the fetus was done and serial sections of the left eye were studied by light microscopy. Histopathological examination verified the sonographic diagnosis of fetal cataract in a microphthalmic eye. Associated findings included malformation of the anterior segment and retinal dysplasia.

Abortion, Induced↗

PubMed1991

Bilateral congenital ocular cysts.

This report presents an unusual case of bilateral congenital ocular cysts. These are in the spectrum of congenital cystic eye and microphthalmos with cysts. Diagnostic evaluation, including orbital B-scan ultrasonography, computed tomography and magnetic resonance imaging is described. Pathologic evaluation of the orbital cysts was consistent with congenital cystic eye. An associated microphthalmic eye was not detected with serial sectioning of both specimens. Examination of the orbit at exploration as well as pre- and post-operative MRI scans failed to demonstrate the presence of a microphthalmic eye in either orbit. Failure to detect a microphthalmic eye clinically, by diagnostic imaging studies, or serial microscopic sections of the cysts supports the diagnosis of congenital cystic eye. This child has associated mild facial clefting (median cleft lip and cleft palate) and basal cephalocele. Histopathologically documented cases of ocular abnormalities associated with basal encephalocele have not been reported. To the authors' knowledge, MRI findings of congenital ocular cysts have been reported once previously in a case of microphthalmos with cyst, however, histopathologic correlation has not been reported previously.

Cysts↗

PubMedDate not supplied

Maldevelopment of neural crest cells in patients with typical uveal coloboma.

PURPOSE: To clarify the pathogenesis of ocular and systemic anomalies associated with typical uveal coloboma. METHODS: The records of 72 patients with typical uveal coloboma (35 males and 37 females) treated at Nagoya City University Hospital during a 16-year period were reviewed. RESULTS: Typical uveal coloboma was bilateral in 33 patients and unilateral in 35 patients; 4 patients were unclassified because of severe contralateral microphthalmos. Uveal coloboma was an isolated defect in 23 (37%) patients. Other ocular anomalies were present in 19 (31%) patients, systemic anomalies were found in 7 (11%) patients, and both other ocular and systemic anomalies were noted in 13 patients (21%). The associated ocular anomalies included microphthalmos in 28 eyes of 23 patients, persistent pupillary membrane in 28 eyes of 18 patients, and posterior embryotoxon in 20 eyes of 15 patients. The accompanying systemic anomalies included ear anomalies, retarded growth, and retarded development in 18 patients; heart anomalies in 13 patients; genital hypoplasia in 12 patients; and congenital facial palsy in 10 patients. The collection of malformations known as the CHARGE association was diagnosed in 14 (19%) patients. CONCLUSION: Abnormal development of neural crest cells appeared to be responsible for the majority of associated ocular and systemic anomalies in patients in the present series, suggesting that typical uveal coloboma may be related to maldevelopment of the neural crest cells. The present findings indicated that ophthalmologists should be aware of the possible association of typical uveal coloboma with systemic anomalies.

Abnormalities, Multiple↗

PubMed2002

[Value of MRI in the diagnosis of unilateral optic nerve aplasia: a case report].

Optic nerve aplasia is a rare congenital anomaly consisting of complete absence of the optic disc and nerve, ganglion cells and nerve fibers, and retinal blood vessels. Optic nerve aplasia may be associated or not with anomalies of the eye ball, and may be unilateral or more rarely bilateral, the latter sometimes associated with major central nervous system anomalies. We report the MRI appearance of a case of unilateral optic nerve aplasia associated with microphthalmos. Coronal T2 weighted and 3D T1 weighted images disclosed the absence of the 3 portions of the optic nerve. This observation shows the usefulness of systematic MRI in case of microphthalmos associated with suggestive anomalies of the fundus.

Abnormalities, Multiple↗

PubMed2002

Ocular manifestations of congenital rubella syndrome in a developing country.

PURPOSE: To describe the ocular manifestations of congenital rubella syndrome (CRS), a common cause of congenital cataracts in developing countries. METHODS: Retrospective analysis of case records of 46 sero-positive infants under 12 months of age who presented at Aravind Eye Hospital, Madurai between July 1993 and February 2001. The ocular and systemic examination details were recorded. RESULTS: Both eyes were affected in 41 (89%) patients. Cataract was present in 81 (93.1%) eyes; most of them were nuclear cataract (79, 97.5%). Other common ocular presentations included microphthalmos in 74 (85.1%) eyes, iris abnormalities in 51 (58.6%) eyes, and pigmentary retinopathy in 33 (37.9%) eyes. Cataract, microphthalmos and iris hypoplasia was a common combination present in 49 (56.3%) eyes. Systemic manifestations included cardiac anomalies in 23 (50%) and neurological anomalies in 16 (34%) children. Multi-system involvement was present in 32 (70%) children. Low birth weight (below 2 kg) was seen in 30% infants. CONCLUSION: CRS may present with a wide spectrum of ocular and systemic findings and requires a high index of suspicion for diagnosis. Any sick infant with unilateral or bilateral congenital cataract should be investigated thoroughly for CRS.

Abnormalities, Multiple↗

PubMed1987

Computed tomography of optic nerve colobomas, morning glory anomaly, and colobomatous cyst.

CT scanning can be of great value in evaluating optic nerve colobomas, particularly in clinical situations in which corneal, lenticular, vitreal, or other opacities hinder visualization of the optic disc. Experience with the patients presented here demonstrates that CT scanning is useful in the assessment of the presence and size of classic colobomas, morning glory anomaly, and microphthalmos with cyst. It is also of value in assessing associated ocular defects such as microphthalmos, shallow anterior chamber, and atrophic ciliary body.

Child↗

PubMed1986

Corneal involvement in autosomal dominant coloboma/microphthalmos.

Peripheral corneal opacification in the line of closure of the embryonic fissure associated with hyperopic astigmatism and anisometropic amblyopia was identified in two eyes of two members of a family with isolated autosomal dominant coloboma-microphthalmos. A review of the literature disclosed no previously reported cases. It would appear that the gene for isolated coloboma-microphthalmos can affect the growth and differentiation of mesenchymal cells of neural crest origin, as well as the neuroectodermal tissues of the embryonic fissure.

Adult↗

PubMed2005

The phenotypic spectrum of baraitser-winter syndrome: a new case and review of literature.

The syndrome of iris coloboma, ptosis, hypertelorism, and mental retardation (Online Mendelian Inheritance in Man -- OMIM # 243310), also known as the Baraitser-Winter syndrome, originally was described in a brother and sister and in an unrelated girl in 1988. Six additional individuals with a similar phenotype have been reported in the world literature. Microphthalmos, microcornea, and brain malformations were added to the phenotypic spectrum of this syndrome in 1995. We report a child who presented with the aforementioned findings. Eye examination revealed bilateral microphthalmos and typical iris, optic nerve, and choroidal colobomas. Magnetic resonance imaging of the brain demonstrated pachygyria and cortical atrophy.

Blepharoptosis↗

PubMed1985

Ocular findings in a new heritable syndrome of brain, eye, and urogenital abnormalities.

We studied the clinical and histopathologic ocular findings in four related males with a newly recognized syndrome consisting of microphthalmos, microencephaly, mental retardation, agenesis of the corpus callosum, hypospadius, and cryptorchidism with X-linked recessive inheritance. The ocular abnormalities include microphthalmos, corneal pannus and hypoplasia, cataracts, uveal hypoplasia, retinal dysplasia, optic nerve hypoplasia, and congenital blepharoptosis. In case 4, a female twin who died in utero (at 15 weeks' gestation) showed none of the ocular abnormalities.

Abnormalities, Multiple↗

PubMed2001

Clinical findings, consanguinity, and pedigrees in children with anophthalmos in southern India.

This study aimed to describe clinical findings, pedigrees, and possible environmental risk factors in children with clinical anophthalmos and remnant microphthalmos in either eye in southern India. Twenty-four children (14 male, 10 female; mean age 10.3 years, age range 1.3 to 18 years,) were recruited from schools for the blind, hospitals, and community-based rehabilitation programmes in Andhra Pradesh, India, over 1 year. Family members were examined, and mothers interviewed. Fifteen children had anophthalmos and nine had remnant microphthalmos in one or both eyes. Twelve children had associated systemic findings, of which six were major and six were minor abnormalities. Information on consanguinity was available in 19 children, 12 of whom had consanguineous parents. Five children had a positive family history. Two mothers had a history of night blindness, and one had a history of pesticide exposure during pregnancy. High rates of consanguinity suggest a genetic recessive aetiology.

Adolescent↗

PubMed1983

Bilateral and unilateral mesodermal corneal metaplasia.

We report on 2 infants, one with a bilateral and the other with a unilateral corneal metaplasia. The first case with bilateral corneal metaplasia showed shortening of both upper and lower lids with formation of symblephara. By ultrasonography the right eye presented with microphthalmos, aphakia, and persistent hyaloid, whereas the inner parts of the left eye appeared to be normal. The question remains to be answered whether this is an abortive cryptophthalmos leading to bilateral corneal metaplasia or a primary corneal metaplasia inhibiting the lid growth. No suggestions concerning the aetiology are made. The second case presented with a unilateral corneal metaplasia, normal eye lids, aphakia, and microphthalmos. This aberration was probably caused by an amniotic band, as it is associated with malformation of the nose on the same side. In case 2 the dermoid was excised and a lamellar corneal graft performed. The histology is reported.

Cornea↗

PubMedDate not supplied

Congenital aphakia: a clinicopathologic report of three cases.

BACKGROUND: Congenital aphakia is a rare condition that has been classified as primary when no lens induction of the surface ectoderm occurs and secondary when lens development takes place but later is resorbed or expelled in utero. METHODS: The authors report the clinical and pathologic findings in three infants with congenital aphakia whose eyes were enucleated either at surgery at 11 months or at autopsy after 1 and 3 days of life. RESULTS: Two cases classified as primary congenital aphakia had severe microphthalmos, anterior segment aplasia, or anomalous development and posterior choroidal and optic disc colobomas. One was in a case believed to be Waardenburg's recessive anophthalmia syndrome and the other had 18 trisomy. A case of secondary congenital aphakia had findings of Peter's syndrome and features suggesting rubella, which had been observed in some previous reports. CONCLUSIONS: Primary congenital aphakia can result from a variety of teratogenic events in the first 4 weeks of embryogenesis and results in microphthalmos and severe anterior segment aplasia/dysplasia. Secondary congenital aphakia is associated with less severe ocular anomalies. The possible role of deletion or mutation involving the PAX6 gene in anterior segment anomalies and induction of lens development is discussed. In addition to chromosomal influences, in utero viral infection, particularly rubella, may play a role in some cases.

Abnormalities, Multiple↗

PubMed2003

Persistent hyperplastic primary vitreous: magnetic resonance imaging and clinical findings.

BACKGROUND: This study presents magnetic resonance imaging (MRI) findings of both the anterior and posterior types of persistent hyperplastic primary vitreous (PHPV) to facilitate the differential diagnosis from other intraocular abnormalities. METHODS: Seventeen patients with PHPV who were evaluated using non-contrast and contrast-enhanced T1- and T2-weighted images were retrospectively reviewed. RESULTS: Among the 17 patients with PHPV (6 males, 11 females), 13 had unilateral PHPV (11 left eyes, 2 right eyes), and 4 had bilateral PHPV. The MRI findings of the anterior type of PHPV included a shallow or collapsed anterior chamber, an anterior segment anomaly, and a retrolental vascular membrane which demonstrated hyperintensity after contrast enhancement. The MRI findings of the posterior type consisted of microphthalmos; a tubular image, representing the hyaloid vessel; a funnel-shaped retinal detachment, with the subretinal fluid hyperintense on both T1- and T2-weighted images; the fluid-fluid level, which was hypointense on both T1- and T2-weighted images and probably corresponded to the presence of hemorrhage in the subretinal space; a retrolental mass; and vitreous hemorrhage. The most common clinical presentations of patients with PHPV in our study were microphthalmos, a shallow or collapsed anterior chamber, and leukocoria. CONCLUSIONS: The presentation of PHPV at different stages was variable; the MRI features of PHPV along with clinical findings were able to facilitate the differential diagnosis from other intraocular abnormalities such as retinoblastoma and Coats' disease.

Adolescent↗

PubMed1982

[Conjunctival sac of anophthalmic orbits].

Reconstruction of the conjunctival sac is never a simple procedure. It is a question of positioning a prosthesis in the orbital cavity which will have no anatomic support, as the eye has been enucleated, reduced to a stump (microphthalmos) or has been replaced by an implant that has just been expelled. All described techniques consist in enlarging the existing conjunctival sac, and then positioning a mucosal or dermo-epidermical graft in the orbital cavity maintained by a conformer. In order to limit the effects of the inevitable retraction during the first weeks following surgery, operative enlargement beyond the needs of the conjunctival sac is essential. The conformer should be supported by tarsorraphy until the phenomenon of retraction has reached an end (4 to 6 months). The problem of the "orbital cavity" must be understood so that indications for surgical remodelling of the conjunctival sac can be established. This is simple after enucleation, but more complex in the case of a microphthalmos, an injury, or an exenteration of the orbit where remodelling represents only the last operative stage after bone remodelling, or lids remodelling and sometimes transposition of the temporalis muscle in the socket.

Adult↗