Unusual ophthalmological findings in a case of partial trisomy 15

The clinical and pathological findings in a two-month old girl having partial trisomy 15, are presented. The patient showed bilateral microphthalmia accompanied by a retrolental mass in her left eye. She underwent vitrectomy, lensectomy and accidental retinectomy. During the course of the operation, persistent hyperplastic primary vitreous (PHPV) was found with findings of retinal dysplasia on the pathologic examination.     

Colobomatous microphthalmia and orbital neuroglial cyst: case report

We present the case of a boy with a congenital right orbital cyst with bilateral colobomatous microphthalmia. Neuroimaging studies excluded communication between the cyst and the eye and between the cyst and the central nervous system. Analysis of cyst fluid obtained by aspiration detected beta 2-transferrin by high resolution immunofixation (IFE). The cyst recurred two months following aspiration. It was then completely excised and histopathologic studies demonstrated a cyst containing neuroglial tissue. No recurrence was observed for 12 months following excision.     

Microftalmia bilateral asociada con quistes orbitarios. Manejo individualizado según el potencial visual. Reporte de caso clínico

The case is presented of a 3-month-old infant diagnosed with microphthalmos and orbital cysts. Magnetic Resonance Imaging revealed a bilateral microphthalmia with a moderate right cyst and a severe left cyst. Visual potential of the right eye was uncertain. Non-surgical treatment was decided. At the age of 2 years old, physical examination showed a significant decrease of the cysts and visual acuity of hand movements due to the residual vision of his right eye.Microphthalmos with orbital cyst is a rare congenital anomaly. Cysts tend to enlarge with time. At the moment, no standard protocol for the management of this pathology has been described. Unlike in our patient, visual acuity in these patients is usually of no-light perception. The observation could be an alternative in severe cases, since there is a possibility of spontaneous reduction, displacement, or regression of the cysts.     

Congenital cystic eye

Background Congenital cystic eye is a rare ocular and orbital malformation describing an intraorbital cavity lined by neuroglial tissue. Clinical and histopathologic findings of a 3-year-old boy with a congenital cystic eye are presented.Methods A 4-year-old otherwise healthy boy with anophthalmia of the right eye was referred because of progressive volume enlargement of his congenital cystic lesion of the right orbit. Imaging techniques revealed a hyperintense cystic tumor with calcifications of the wall. There was no evidence of a globe, no communication to the intracranial space and a normal bony orbit. The mass was excised and a 20-mm silicone orbital implant inserted.Results Microscopic examination of the cyst revealed irregularly shaped layers of fibrovascular tissue lined by neuroglial tissue with calcified bodies and positive immunohistochemical staining for glial fibrillary acid protein (GFAP), neuron-specific enolase (NSE) and neurofilament protein (NF). No structures like cornea, lens, retinal pigmented epithelium or rosettes were identified.Conclusions Congenital cystic eye is a primary developmental abnormality of the globe caused by an invaginational arrest of the primary optic vesicle between the 2-mm and 7-mm stages of fetal development. The luminal neuroglial tissue contains dystrophic calcified bodies and degenerated primitive nerve fibers. The enlargement of the cyst may be due to fluid produced by glial tissue. The differential diagnoses for cystic anomalies without epithelial lining include microphthalmia with cyst, microphthalmia with cystic teratoma, ectopic brain tissue and meningoencephalocele.     

Optic Disc Coloboma and Localized Chorioretinal Defects in Constitutional Partial Trisomy 8 Mosaicism

Constitutional partial trisomy 8 mosaicism is a rare chromosomal multisystem disorder with systemic and ophthalmologic manifestations. We report the case of a 15-year-old female mosaic for trisomy 8 who has unilateral colobomatous microphthalmia and multiple chorioretinal defects. These congenital anomalies have not been previously reported in association with constitutional partial trisomy 8 mosaicism.     

Microphthalmia with Huge Cyst: A Simple Technique for Excision

Purpose: Is to present a simple technique for complete excision of microphthalmia and its huge cyst. Patients: Five patients with microphthalmia and huge cyst were included. The pathology was bilateral in one case. Lateral canthotomy was performed in all cases. The 4 recti of the small eye were exposed and dis-inserted with application of 4 tractional sutures at the insertion sites. Gentle traction and blunt dissection with protection of the cyst by malleable retractor were used to release the cyst gradually. The optic nerve was clamped and cauterized. By cutting the optic nerve, the microphthalmic eye and its huge cyst came out easily. Results: In no patient was the cyst was ruptured or incompletely excised. Conclusion: This technique is simple, fast and effective for complete excision of the microphthalmia and its huge cyst completely.     

Optic disc coloboma and localized chorioretinal defects in constitutional partial trisomy 8 mosaicism

Constitutional partial trisomy 8 mosaicism is a rare chromosomal multisystem disorder with systemic and ophthalmologic manifestations. We report the case of a 15-year-old female mosaic for trisomy 8 who has unilateral colobomatous microphthalmia and multiple chorioretinal defects. These congenital anomalies have not been previously reported in association with constitutional partial trisomy 8 mosaicism.     

Gorlin syndrome: the PTCH gene links ocular developmental defects and tumour formation

AIM: To identify a gene linking microphthalmia with cyst with early onset medulloblastoma. METHODS: Mutation analysis of the PTCH gene. RESULTS: A mutation in exon 10 of the PTCH gene was identified, confirming a diagnosis of Gorlin syndrome. CONCLUSIONS: This is the first genetically identified mutation giving rise to microphthalmia with cyst and provides a valuable link in the eye developmental gene pathway.     

Multiple congenital malformations including severe eye anomalies and abnormal cerebellar development with Dandy-Walker malformation in a girl with partial trisomy 3q

PURPOSE: Ocular anomalies have been associated with numerous chromosomal abnormalities. This report describes partial trisomy 3q in a two-month-old girl with dysmorphic features of the Dup3q phenotype and severe eye and cerebellar malformations. METHODS: Clinical examination and chromosomal analysis were conducted. RESULTS: The karyotype of the propositus was 46,XX, ins(3)(pter --> p25::q27 --> q21::p25 --> qter). She had an abnormal head shape, low-set malformed ears, coarse facies, short webbed neck, abnormal foot position, polycystic kidney, and spina bifida. There was also bilateral microphthalmia that was more severe on the right side, microcornea, and corneal opacity. She had posterior fossa abnormalities, including cerebellar vermis hypoplasia suggestive of a Dandy-Walker (DW) malformation. CONCLUSIONS: This girl with an intrachromosomal duplication of distal 3q and typical phenotype belongs to the severe end of the spectrum for such cases. The ocular manifestations of the 3q duplication syndrome provide additional evidence of the involvement of developmental eye genes in this chromosomal segment.     

Congenital orbito-palpebral cyst in a case of Fraser syndrome

A seven-year-old girl was referred to our clinic with absent eyelids and a mass which was gradually increasing in size from the right orbit. The child was diagnosed to have Fraser syndrome (cryptophthalmos, abnormal genitalia, mental deficiency, renal agenesis and abnormal ears). On examination, there was cryptophthalmos and a cystic swelling arising from the right orbit. The cyst was removed. On gross examination, there was a posterior eyeball with normal optic nerve. Placed in the anterior part of the eyeball was a cyst measuring about 2 cm in diameter filled with a yellow-coloured fluid. The cavity of the eyeball was communicating with the cyst. The cyst wall was lined by a single layer of epithelium. The posterior eyeball had well developed sclera, choroid, retina and optic nerve. There have been many reports of cryptophthalmos in Fraser syndrome. The most common eye deformity descibed with cryptophthalmos is microphthalmia or anophthalmia. To the author’s knowledge, there is one other report of cystic eyeball with cryptophthalmos in the literature. The cyst seems to be due to a surface ectodermal anomaly, rather than a neuro-ectodermal anomaly where there is failure of invagination of the primary optic cup during development. The cyst wall in those cases has inverted retinal elements. In our case, differentiation of retinal elements was present in the posterior eyeball. The abnormality seemed to lie in the derivatives of surface ectoderm, namely the eyelids and the anterior segment structures.     

Congenital orbito-palpebral cyst in a case of Fraser syndrome

A seven-year-old girl was referred to our clinic with absent eyelids and a mass which was gradually increasing in size from the right orbit. The child was diagnosed to have Fraser syndrome (cryptophthalmos, abnormal genitalia, mental deficiency, renal agenesis and abnormal ears). On examination, there was cryptophthalmos and a cystic swelling arising from the right orbit. The cyst was removed. On gross examination, there was a posterior eyeball with normal optic nerve. Placed in the anterior part of the eyeball was a cyst measuring about 2 cm in diameter filled with a yellow-coloured fluid. The cavity of the eyeball was communicating with the cyst. The cyst wall was lined by a single layer of epithelium. The posterior eyeball had well developed sclera, choroid, retina and optic nerve. There have been many reports of cryptophthalmos in Fraser syndrome. The most common eye deformity described with cryptophthalmos is microphthalmia or anophthalmia. To the author's knowledge, there is one other report of cystic eyeball with cryptophthalmos in the literature. The cyst seems to be due to a surface ectodermal anomaly, rather than a neuro-ectodermal anomaly where there is failure of invagination of the primary optic cup during development. The cyst wall in those cases has inverted retinal elements. In our case, differentiation of retinal elements was present in the posterior eyeball. The abnormality seemed to lie in the derivatives of surface ectoderm, namely the eyelids and the anterior segment structures.     

Optic nerve coloboma with retinal degeneration associated with cystic microphthalmia of the other eye

In a seventy-five-year old man an optic nerve coloboma with generalised retinal degeneration associated with a cystic microphthalmia of the other eye is described. The MR imaging revealed the existence of a left microphthalmic eye with a lower lid cyst. From the other eye an optic nerve coloboma with a cystic ectasia of the coloboma area freely open to the vitreous cavity was apparent. The ERG recorded from this eye was extinguished.     

Ophthalmic and systemic findings in interstitial deletions of chromosome 14q: a case feport and literature review

We report a patient with clinical anophthalmia, partial eyelid fusion and a hypoplastic socket on the right. The left eye has microphthalmia involving the anterior and posterior segments, microcornea, iris coloboma, chorioretinal dysgenesis, macular dysplasia, absence of retinal vessels, and optic nerve aplasia. Systemic abnormalities include microcephaly, bilateral hearing loss, and duodenal atresia. Electrophysiologic testing showed no response from either eye. Cytogenetic testing revealed a de novo interstitial deletion of chromosome 14q22.3q23.1. The literature of similar interstitial deletions and ongoing candidate gene studies are reviewed.     

A Case of 22q11.2 Deletion Syndrome with Right Microphthalmia and Left Corneal Staphyloma

Abstract

Background: A microdeletion in the chromosome 22q11.2 (DiGeorge or velocardiofacial syndrome) is the most common human deletion syndrome. Patients with 22q11.2 deletion may have a wide range of ocular findings but severe ocular involvement is uncommon. Here, we describe a 2-year-old boy who had growth retardation, developmental delay, right renal agenesis, ventricular septal defect and severe bilateral ocular anomalies.

Materials and methods: The systemic and ocular findings and cranial magnetic resonance imaging study results were reviewed. Fluorescence in situ hybridization analysis was performed on his peripheral blood.

Results: The patient presented with the oculodigital sign. On examination, he had severe right microphthalmia with no light perception and his left eye could not fix and follow. The left eye had anterior segment dysgenesis, mild sclerocornea, corneal staphyloma and congenital aphakia. Systemic findings included growth deficiency, microcephaly, micrognathia, ventricular septal defect, atrial septal defect and right renal agenesis. Fluorescence in situ hybridization analysis of this patient was significant for a heterozygous deletion covering DiGeorge critical region 2 and spanning a 250?kb region in the 22q11.2 locus.

Conclusion: The 22q11.2 deletion syndrome may be associated with severe bilateral ocular malformations including microphthalmia, sclerocornea, corneal staphyloma, anterior segment dysgenesis and congenital aphakia. Corneal staphyloma might have resulted from the oculodigital phenomenon or increased intraocular pressure.     

Microphthalmia in a Case of Edward Syndrome

Abstract

Aim: To present an infant of trisomy 18 (Edwards Syndrome) with unilateral microphthalmia. Methods: A female infant who was born at 41 weeks of gestation had been diagnosed with Edwards Syndrome (ES). On ophthalmic examination, microphthalmia, microcornea, optic disc coloboma, and persistent hyaloid artery were determined in the left eye. In addition, abnormalities in the ears, hands, feet, and cardiovascular system were present. Discussion: With this case report, we aimed to highlight the relationship between ocular disgenesis and chromosomal disorders and the importance of prenatal testing and genetic counseling for parents.     

A practical guide to the management of anophthalmia and microphthalmia

Congenital anophthalmia and microphthalmia are rare developmental defects of the globe. They often arise in conjunction with other ocular defects such as coloboma and orbital cyst. They may also be part of more generalised syndromes, such as CHARGE syndrome. Anophthalmia, microphthalmia, and coloboma are likely to be caused by disturbances of the morphogenetic pathway that controls eye development, either as a result of primary genetic defect, or external gestational factors, including infection or drugs that can influence the smooth processes of morphogenesis.The ophthalmologist is often the primary carer for children with anophthalmia and microphthalmia, and as such can coordinate the multidisciplinary input needed to offer optimal care for these individuals, including vision and family support services. They are able to assess the vision and maximise the visual potential of the child and they can also ensure that the cosmetic and social impact of anophthalmia or microphthalmia is minimised by starting socket expansion or referring to a specialist oculoplastics and prosthetics unit. A coordinated approach with paediatrics is necessary to manage any associated conditions. Genetic diagnosis and investigations can greatly assist in providing a diagnosis and informed genetic counselling.     

Bilateral macular cysts following electric burn

A 28-year-old man presented with bilateral acute loss of vision following a high-voltage injury. The visual acuity was 6/36 in the right eye and 6/24 in the left eye. Fundus examination revealed a well-defined round lesion simulating a full thickness macular hole in the right eye and yellow deposits in the macular area in the left eye. Optical coherence tomography (OCT) showed bilateral macular cysts, with intact outer and inner retinal layers. At 1 month follow up, OCT showed a persistent macular cyst in the right eye with spontaneous resolution of the macular cyst along with visual improvement in the left eye.     

Ocular defects associated with a duplication of the distal part of the long arm of chromosome 1: a case report

The authors report a case of de novo duplication 1q32-qter present in a patient with dysmorphic syndrome and developmental delay. This article describes the eighth case of partial trisomy 1q32-qter "pure", without chromosomal abnormalities. In the literature, a dysmorphic "syndrome" is described for trisomy 1q32-qter: hypertelorism, low set and malformed ears, prominent forehead, long philtrum, antimongoloid slanting, foot and digital malformations, cardiovascular abnormalities, urogenital abnormalities, and mental retardation. The ocular defects described in previously reported cases include: cataract, strabismus, hypoplasia of the optic disk, microphthalmia, epicanthal folds, ptosis, persistent tunica vasculosa lentis, and hyaloid vessels, but this seems to be nonspecific of this chromosomal abnormality.     

Complications of a voluminous congenital ciliary body cyst

BACKGROUND: Multiple cysts of iris and ciliary body may cause many complications such as acute or chronic angle closure glaucoma. PATIENT: We present a boy with multiple congenital cysts of the iris pigment epithelium and a voluminous cyst of the unpigmented ciliary body epithelium of the right eye. This resulted in lenticular astigmatism, concomitant strabismus divergens and subsequently to anisometropia. The voluminous cyst (8 x 12 mm in diameter) was folded around the lens, reached the optic axis and resulted in displacement of the lens and contact between the iris and the corneal endothelium from 6.30 to 11. After puncture and partial resection of the cyst at the age of 8 months the boy developed a subcapsular multivesicular cataractic clouding of the temporal lens and a progredient myopia (up to - 14.0/- 2.0/0 degrees ); in contrast the left eye was hyperopic (+ 3.5/- 3.75/0 degrees ). The lens was subluxated superonasally due to congenital damage of the zonular fibres. Because development of visual acuity seemed limited by these determinants (20/200 at the right eye), cataract surgery with posterior capsulorhexis, anterior vitrectomy, and implantation of a capsular tension ring and posterior chamber intraocular lens was performed at the age of nearly five. Actually, there is an orthotropia, best corrected visual acuity in the distance of 20/32 in the right and 20/20 in the left eye; binocular vision is somewhat restricted. CONCLUSION: Usually congenital cysts are clinically not very relevant; occasionally surgical intervention is required to ensure adequate development of visual acuity.