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Purpose: To report a patient with CHARGE association (coloboma, heart disease, choanal atresia, growth retardation, genital hypoplasia, and ear abnormalities) who developed a choroidal neovascular membrane in association with an optic nerve coloboma., Design: Interventional/observational case report., Method: A 21-month-old boy with CHARGE association developed a grayish choroidal neovascular membrane associated with lipid exudation, subretinal fluid, and retinal hemorrhage at the temporal edge of his right optic nerve coloboma., Results: The patient underwent transpupillary diode laser of the choroidal neovascular membrane. Five months later, it and the serous retinal detachment had resolved., Conclusions: Patients with CHARGE association may develop choroidal neovascular membrane with serous retinal detachments in association with optic nerve colobomas. These neovascular membranes may be treated successfully with transpupillary diode laser.

A unilateral scleral staphyloma in an 18-month-old, female spayed Domestic Short-haired cat was treated with excision, primary closure and fascial graft. Other ocular abnormalities noted on examination included iris coloboma, anterior cortical cataract, focal lens equator flattening and retinal dysplasia. The staphyloma was presumed to be congenital in origin.

The aim of this study was to characterize children with transient nystagmus. Eleven children (six males, five females) developed nystagmus in infancy and then experienced regression of the problem, usually within a few months. Mean age at onset was 2.7 months, and mean age at regression was 8.5 months. No etiology could be ascertained in any of the patients, although four children had other eye or vision abnormalities (regressed retinopathy of prematurity, n=1; asymmetric fundus colobomata, n=1; delayed visual maturation, n=2). Results of this study suggest that mechanisms which allow ocular motor stability undergo a period of postnatal maturation, during which nystagmus can occur, but also during which nystagmus may disappear. Not every case of transient nystagmus should be categorized as spasmus nutans. There is a subset of infants and young children who develop transient nystagmus with no other findings and in whom the nystagmus disappears.

Objective: To describe the underrecognized inner ear malformation characterized by complete aplasia of the labyrinthine semicircular canals associated with a relatively well-formed cochlea, to investigate its relationship with known syndromic forms of hearing loss, and to hypothesize regarding the potential embryopathogenesis of this anomaly., Study Design: A retrospective case review consisting of cases of sensorineural hearing loss with radiographic evidence demonstrating agenesis of the semicircular canals associated with a cochlea that was either morphologically normal or sufficiently well developed to accommodate the full insertion of a cochlear implant electrode. Cases were identified by computerized tomography findings that identified the anomaly under study., Setting: Departments of otolaryngology and radiology in a tertiary referral center, with a large cochlear implant program serving over 800 patients, more than half of whom are children., Patients: Fifteen patients with the anomaly under study were identified., Interventions: Each patient underwent a complete otologic examination, audiometric studies, and high resolution computerized tomography of the temporal bone in axial and coronal planes., Main Outcome Measures: The bony morphology of the cochlea, round and oval windows, vestibule, semicircular canals, and vestibular aqueduct, and the course of the facial nerve were examined. Auditory findings and otologic treatment are presented., Results: Of the 15 identified patients, 4 were nonsyndromic, 9 had CHARGE association (Coloboma of the eye, congenital Heart defects, choanal Atresia, mental and/or growth Retardation, Genital hypoplasia, and Ear anomalies and/or deafness), 1 met criteria for Noonan's syndrome, and one had features of both these syndromes. Although the cochlea was present in all cases, the cochlear morphology was usually abnormal in the CHARGE association patients. Of the 20 ears in the CHARGE subjects, only 3 ears (15%) were seen to have completely normal development of the cochlea in both the basal and upper turns. The others showed either mild hypoplasia of the upper turns (13 ears, 65%) or an incomplete partition typical of the classic Mondini deformity (4 ears, 20%). In the 4 nonsyndromic cases, one subject had bilateral Mondini dysplasia and the other three had normal cochleae. In the entire group, abnormalities of oval window development were common (20 of 30 ears, 67%), especially in the syndromic cases (18/22, 81%), but the round window was normal in the majority of cases (73%). Seven patients in the CHARGE association group had an anomalous course of the facial nerve, which was particularly severe in three. Four patients had congenital unilateral facial paralysis, although two of these children had normal radiographic anatomy of the facial nerve. One patient had bilateral facial weakness., Conclusions: Syndromic and nonsyndromic cases of isolated semicircular canal aplasia were identified. Except for mild to moderate cochlear dysplasia, and the anomalous course of the facial nerve in some CHARGE association patients, both groups of patients were generally suitable for cochlear implantation if indicated. A high incidence of oval window aplasia with normal round window development may help to explain the embryopathogenesis of this anomaly, considering the sequence of inner ear development.

Aims: To report the detailed clinical findings in a three generation pedigree with autosomal dominant cataract, microcornea, and coloboma resulting from mutation of the lens development gene, MAF., Methods: Five members of a three generation pedigree with progressive cataracts underwent detailed ophthalmic examination to characterise associated ocular phenotypic features., Results: The cataracts present in all affected individuals were cortical, and/or nuclear, pulverulent opacities. Corneal diameters of 10-10.25 mm were present in two family members. Axial lengths were in the normal range. Bilateral iris coloboma in the 6 o'clock position was present in one patient. Uveal melanoma was present in one patient, with uveal naevi in this and one other patient., Conclusion: The bZIP transcription factor MAF is a key lens development gene that regulates the expression of the crystallins. Individuals with a mutation in MAF may have pulverulent cataract alone or cataract in association with microcornea or iris coloboma.

Aims: To identify the proportion of familial cases of isolated ocular colobomatous malformations in a case series from south India., Methods: Children with ocular coloboma without systemic features were recruited from multiple sources in Andhra Pradesh, India. Their families were traced, pedigrees drawn, and family members examined., Results: 56 probands, 25 females (44.6%) and 31 males (57.4%) with a colobomatous malformation were identified. In 12 cases (21.4%) another family member was affected. The risk to siblings was 3.8%. The parents were consanguineous in 25 cases (44.6%)., Conclusions: 21.4% of cases of isolated ocular coloboma in this highly consanguineous population of south India were familial, with both autosomal dominant and autosomal recessive mechanisms likely in different families.

Aim: To investigate associated neurological, endocrinological and cognitive dysfunctions in children with visual impairment caused by optic nerve hypoplasia or optic nerve/fundus coloboma and/or microphthalmus., Methods: Forty children born between 1990 and 1998 were assessed by neurological examination, re-evaluation of neuroradiological investigations, review of medical records and examination of cognitive levels., Results: Neurological dysfunctions (epilepsy and/or motor impairment) were found in 13/28 children with optic nerve hypoplasia and in 3/12 children with coloboma/microphthalmus. The optic pathways were thin in 22/24, an abnormal posterior pituitary gland and/or thin infundibulum was found in 16/22 and absence of septum pellucidum in 14/27 children with optic nerve hypoplasia. Other types of cerebral abnormalities occurred in 9/26 children. Among children with coloboma/microphthalmus, the optic pathways were thin in 4/8 children but none had pituitary or cerebral midline abnormalities. Sixteen children with optic nerve hypoplasia were receiving hormone substitution but none of the children with coloboma/microphthalmus. Thirteen of the 16 children with optic nerve hypoplasia and with an abnormal pituitary region had endocrinological deficiencies. Mental retardation was found in 9/24 of the children with optic nerve hypoplasia and in 5/10 of the children with coloboma/microphthalmus., Conclusion: Endocrinological. neurological and neuroradiological defects seem more common in children with optic nerve hypoplasia than in children with coloboma. A pituitary region that appears abnormal in magnetic resonance imaging seems to predict endocrinological deficits in children with optic nerve hypoplasia.

CHARGE association is the sporadic, non-random concurrence of Coloboma of the eye, Heart anomalies, choanal Atresia, Retardation of growth and development, Genitourinary anomalies, Ear anomalies and deafness (CHARGE association). Other abnormalities have also been reported in small numbers of patients with CHARGE association. The molecular basis of the CHARGE association is not clear. The spectrum of CHARGE association anomalies is wide and includes multiple systems. CHARGE association shares features with DiGeorge sequence, but no specific immune abnormalities are identified with the CHARGE association. The present study reports immune defects observed in three patients with CHARGE association. All patients presented with frequent upper and lower respiratory infections. The underlying immune abnormalities differ: one patient has impaired T-cell proliferation and poor antibody response to polysaccharide (pneumococcal) antigens; another has T-cell lymphopenia; and the third has a mild IgG2 subclass deficiency. Their course has so far been benign and they are all managed with prophylactic antibiotics. Although no single abnormality of the immune system is recognized in these patients, immune deficiency is considered among the occasional components of the CHARGE association.

A rare case of optic nerve entrance coloboma associated with situs inversus is reported.

Purpose: To evaluate whether an abnormal optic disc shape in patients with tilted disc syndrome (TDS) is associated with an abnormal configuration of the crystalline lens measured as lenticular astigmatism., Setting: Department of Ophthalmology, Inönü University Medical Faculty, Turgut Ozal Medical Center, Malatya, Turkey., Methods: This cross-sectional masked case-control study comprised 32 eyes of 32 patients with established TDS (13 men, 19 women; mean age 21.31 years +/- 7.05 [SD]) and 20 age- and sex-matched healthy control subjects (8 men, 12 women; mean age 22.65 +/- 7.11 years) with a comparable amount of myopic astigmatism (spherical equivalent) without TDS. The optic disc was morphometrically analyzed by planimetric evaluation of optic disc photographs. The total refractive and keratometric corneal astigmatism was obtained, and lenticular astigmatism was calculated by vector analysis. The Mann-Whitney U test was used for statistical analysis; 1 eye of each patient was evaluated in both groups. A P value less than 0.05 was considered statistically significant., Results: The mean spherical equivalent refraction was comparable in TDS patients (-4.73 +/- 1.12 diopters [D]) and controls (-4.28 +/- 1.29 D) (P =.210). The mean total astigmatism was higher in TDS patients (-2.96 +/- 1.04 D) than in the controls (-2.51 +/- 1.09 D), but the difference was not significant (P =.151). The mean corneal astigmatism was comparable in TDS patients (-2.07 +/- 0.83 D) and controls (-2.28 +/- 0.87 D) (P =.454), but the calculated mean lenticular astigmatism was significantly higher in TDS patients (-1.31 +/- 0.98 D and -0.20 +/- 0.35 D, respectively) (P <.001). Twenty-nine of 32 TDS patients (90.6%) had lenticular astigmatism; in 16 (50%), it was greater than -1.00 D. Lenticular astigmatism was present in 7 controls (35%); in 2 (10%), it was greater than -1.00 D. The mean keratometry was significantly higher in TDS patients (43.84 +/- 1.06 D) than in the controls (42.75 +/- 1.45 D) (P =.011)., Conclusions: Clinically significant lenticular astigmatism was present in TDS patients. If an abnormal optic disc shape is found on ophthalmoscopy, lenticular astigmatism as well as corneal astigmatism should be carefully evaluated to prevent an unsatisfactory refractive outcome, especially in refractive surgery candidates.

Purpose: To discuss the relation between congenital upper eyelid coloboma and cryptophthalmos and to present a new grading for both conditions., Methods: Observational case series study. Twenty-six children (age range, one day after birth to 15 years old) were included in the study: 19 with upper eyelid coloboma, 4 with classic cryptophthalmos, and 3 with both eyelid coloboma and cryptophthalmos., Results: Of the 19 cases of upper eyelid coloboma, 5 occurred in isolation, 11 were associated with facial deformities, and 3 were part of a first arch syndrome (according to the Mustardé classification). All cases of classic cryptophthalmos were sporadic and nonsyndromic. All patients with coloboma with facial deformities, cryptophthalmos, and both eyelid coloboma and cryptophthalmos had similar associated facial abnormalities., Conclusion: Upper eyelid colobomas with facial deformities and cryptophthalmos can be considered as one anomaly. A new grading for this anomaly has been suggested. Grade 1: Coloboma without cryptophthalmos. Grade 2: Coloboma with abortive cryptophthalmos. Grade 3: Coloboma with complete cryptophthalmos. Grade 4: Classic cryptophthalmos (absence of all eyelid structures and the eye is completely covered with skin). Grade 5: Severe cryptophthalmos (with severe deformity of the nose and ectropion of the upper lip).

We describe 3 children (2 siblings aged 10 and 3 years, and 1 sporadic case aged 13 years) with cerebellar vermis defect associated with oligophrenia, congenital ataxia, and hepatic fibrocirrhosis. Differently from what is reported in COACH syndrome, coloboma and renal involvement were absent. Since in one patient hepatic involvement was subclinical and early therapy seemed to prevent disease progression, the presence of liver disease should be carefully investigated in any patient with ataxia and midline cerebellar defects.

Purpose: To verify the functional and anatomical results of retinal detachments related to choroidal coloboma., Methods: Seven eyes with retinal detachment secondary to retinal breaks at the margin of or within a choroidal coloboma were analysed retrospectively., Results: Scleral buckling was performed in five of the seven eyes; two needed additional pars plana vitrectomy (PPV) with internal tamponade using silicone oil to reattach the retina. In two eyes PPV with internal tamponade using silicone oil or gas was used as a primary procedure. All seven eyes were reattached. Five eyes (71.4%) showed improvement or had visual acuity of 20/400 or better after surgery, but two remained unchanged., Conclusions: Retinal detachment secondary to choroidal coloboma can be treated successfully by scleral buckling or PPV with internal tamponade.

Purpose: Congenital upper lid colobomas may be associated with ocular and systemic anomalies. The ophthalmologist's role involves both the diagnosis and management of their various ocular structural defects and management of the visual development., Methods: All cases of congenital eyelid colobomas referred to the Singapore National Eye Centre between July 1992 and July 1995 were assessed for the extent of the eyelid defect, associated ocular anomalies, status of the cornea, and any systemic anomalies., Results: Four infants were tested during this period. The mean follow-up was 25 months (range, 16 to 30 months). All required surgical correction of their eyelid defects before 2 years of age. The patients also had refractive errors requiring amblyopia management. Three of the babies also needed other surgical procedures., Conclusions: Congenital upper eyelid colobomas are a potential threat to vision at an early age and a significant cosmetic blemish later in life. Early surgical intervention is usually required when the defect is larger than one third of the eyelid margin. Close monitoring of the visual development of patients with congenital upper eyelid colobomas is also essential since the risk of amblyopia in these patients is high.

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.

Unlabelled: A case with a predominantly unilateral CHARGE association is reported. The CHARGE association refers to a combination of congenital malformations. This boy had left-sided anomalies consisting of choanal atresia, coloboma and peripheral facial palsy. The infant had a frontal encephalocele, an anomaly not included in the definitions of CHARGE association., Conclusion: even when anomalies are predominantly unilateral, the CHARGE association should be considered in the differential diagnosis.

PAX genes play an important role in fetal development. Moreover, heterozygous mutations in several PAX genes cause human disease. Here we review the role of PAX2 in kidney development, focusing on the morphological effects of PAX2 mutations. We discuss the role of PAX2 in the context of an inhibitory field model of kidney branching morphogenesis and summarize recent progress in this area.

Introduction: The LEOPARD syndrome is an autosomal dominant inherited disease with severe lentiginosis associated with various abnormalities such as electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of the genitalia, retardation of growth and deafness. Ocular manifestations such as coloboma of the iris, the retina and the choroid have not been reported so far., Patients: We report the cases of two 10-year-old identical twins and their mother, showing typical manifestations consistent with the LEOPARD syndrome. Additionally, colobomas of the iris, the retina and the choroid were detected., Results: In addition to the findings typical for the LEOPARD syndrome, we observed unusual ocular abnormalities in all three patients. It represents a discordant phenotype in monozygotic twins., Conclusion: LEOPARD syndrome is a disease with multiple alterations and abnormalities. Although ocular malformations seem to be rare, an ophthalmological examination is recommended in order to initiate early visual rehabilitation.

Purpose: To describe the first case of intraocular teratoma associated with eyelid coloboma and the second reported case of intraocular teratoma., Design: Interventional case report., Methods: A left intraocular tumor was surgically resected from a 2-day-old female with an associated lower eyelid coloboma., Results: Pathologic evaluation revealed a completely intraocular tumor comprising derivatives of all three germ cell layers giving a diagnosis of intraocular teratoma. The eyelid coloboma was repaired, and a scleral-wrapped hydoxyapatite-integrated orbital implant was placed., Conclusion: To our knowledge, this is the second reported instance of teratoma originating within the globe and the only reported case of teratoma associated with eyelid coloboma. Although exceedingly rare, intraocular teratoma should be added to the differential diagnosis of congenital intraocular tumors.

A 9-year-old boy with a history of lipoma excision and laminectomy at the Th10-11 levels, resulting in incomplete paraparesis and neurogenic bladder, was admitted for a comprehensive rehabilitation programme. Physical examination revealed an ipsilateral focal dermal hypoplastic defect within an area of alopecia and a subcutaneous lipomatous tissue on the left temporo-parietal region of the scalp. Iris coloboma and chorioretinitis were diagnosed on the left eye. He also had mild mental retardation and triparesis. Magnetic resonance imaging of the brain and the spine demonstrated hyperintense masses which were consistent with lipoma. Although in the literature three cases of encephalocraniocutaneous lipomatosis (ECCL) concomitant with spinal cord involvement have been reported, to our knowledge iris coloboma and chorioretinitis in ECCL have not been reported previously. In conclusion, we would like to stress that aside from known ophthalmological malformations, iris coloboma and chorioretinitis may also be observed in ECCL and that all patients who have been diagnosed as having ECCL should be examined for spinal cord involvement.

Unlabelled: A male child with fully developed CHARGE association was referred to our hospital several times because of choanal atresia and suspected hearing loss in his first two years of life. As far as they are a main symptom malformations of the ear appear frequently in CHARGE association. This report describes that an obvious anatomic dysplasia of the inner ear can have normal function, which is shown by objective measurement., Methods and Results: Computed tomography of the petrous bone showed bilateral Mondini malformation of the cochlea combined with bulky deformation of middle ear ossicles. By the age of one year brainstem evoked response audiometry (BERA) was performed. The result demonstrated a hearing loss of 60 dB on the right ear, but no measurable hearing loss on the left ear., Conclusion: This case report proves that a Mondini-type malformation of the cochlea does not need to be combined with hearing loss.

We report five cases of complex microphthalmia with other ocular malformations in infants or children, which were evaluated to investigate the relationship between the corneal diameters and total axial length. The size of the globe was measured by using computerized tomographic scans (CT scan), A-scan ultrasonography, or magnetic resonance imaging (MRI). There is a limited range of well-described malformation, including anterior or posterior segment dysgenesis or combined pathology such as corneal opacity, small cornea, iris hypoplasia, lens dislocation, cataract, chorioretinal coloboma, persistent hyperplastic primary vitreous (PHPV), retinal dysplasia, and intraocular tumor. Corneal diameters were correlated significantly with total axial length (r2 = 0.88) and decreased linearly as the total axial length decreased in these cases. However, there was no relationship seen between the total axial length and posterior segment length (r2 = -0.06). The results of this study may aid the clinical ophthalmologist to accurately understand or assess microphthamia combined with other ocular malformations.

Objective/methods: The case of a 36 year old woman who complains of suffering a progressive decrease in visual acuity over a several year period is presented. Her corrected visual acuity was: 1.0 right eye and 0.7 in the left eye. The slit-lamp biomicroscopic examination showed an optic nerve pit in the left eye associated with a transparent schisislike separation of the inner macular retina with a stellate pattern, because of fine folds of the internal limiting membrane. The fluorescein angiography (F.A.) and visual field (V.F.) were normal., Results/conclusion: Congenital optic pits are asymptomatic, unless a serous macular detachment complicates this entity. The characteristic image is an elevation of the neurosensorial retina, a transmission defect in the F.A. and a central scotoma. On the contrary, our patient had a foveolar schisis pattern with normal F.A. and V.F. This macula pattern is rarely associated with a congenital pit.

Purpose: To report ocular and renal findings specific to the inheritable entity called papillorenal (also known as renal-coloboma) syndrome and relate these to a common cause., Design: Observational case series and genetic study., Participants: Two unrelated probands presenting with absent central retinal vessels and 11 available family members., Testing: Doppler ultrasonographic imaging of the optic nerves and kidneys, fluorescein angiography, and genetic testing for PAX2 mutations were performed. In selected cases, indocyanine green angiography, scanning laser ophthalmoscope perimetry, Retinal Thickness Analyzer measurements, visual evoked potentials, and magnetic resonance imaging were also performed., Main Outcome Measures: Better defined characteristics of the papillorenal syndrome., Results: Numerous cilioretinal vessels were present with rudimentary or absent central retinal vessels. Superonasal visual field defects, typical for papillorenal syndrome, corresponded to inferotemporal areas of anomalous retinal and choroidal perfusion and hypoplastic retina. Renal hypoplasia was discovered in two affected members of one family (with previously unsuspected renal failure in one case), and recurrent pyelonephritis was discovered in four affected members of the other family. No PAX2 mutations were detected., Conclusions: In the papillorenal syndrome, the hereditary absence of central retinal vessels may be missed, leading to confusion with isolated coloboma, low-tension glaucoma, and morning glory anomaly. Greater awareness of this syndrome will avoid unneeded glaucoma therapy, allow earlier recognition of renal diseases, and allow genetic counseling. We propose that the papillorenal syndrome is a primary dysgenesis that causes vascular abnormalities predominantly affecting the eye, kidney, and urinary tract, leading to hypoplasia of these structures. The absence of defects in the PAX2 gene in these families suggests that mutations in other genes may also be responsible for this syndrome.

Congenital microphthalmia is a common developmental ocular disorder characterized by shortened axial length. Isolated microphthalmia is clinically and genetically heterogeneous and may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Here, we studied a five-generation family of Sephardic Jewish origin that included 38 members, of whom 7 have either unilateral or bilateral microphthalmia of variable severity inherited as an autosomal dominant trait with incomplete penetrance. After exclusion of several candidate loci, we performed a genome-scan study and demonstrated linkage to chromosome 15q12-q15. Positive LOD scores were obtained with a maximum at the D15S1007 locus (maximum LOD score 3.77, at recombination fraction 0.00). Haplotype analyses supported the location of the disease-causing gene in a 13.8-cM interval between loci D15S1002 and D15S1040.

Purpose: To evaluate the safety and complications of phacoemulsification in a series of patients with congenital coloboma and cataract., Setting: University-based hospital practice., Methods: A retrospective review was conducted of consecutive patients who had coloboma and cataract and had phacoemulsification between January 1987 through December 1998. Complications and visual acuity 2 months postoperatively were assessed., Results: Mean age of 7 cases at the time of surgery was 41.6 years +/- 11.1 (SD). Visual acuity improved in 6 of 7 eyes; 1 eye had no change. Six eyes had no serious complications. In 1 eye, a retinal detachment was observed postoperatively, but there was no loss in visual acuity. Another patient developed postoperative monocular diplopia from exposure of the intraocular lens (IOL) edge within the inferonasally located corectopia associated with the coloboma. Nonsurgical treatment was unsuccessful, but this symptom resolved after surgical pupilloplasty., Conclusions: The results of this small case series affirm that clinically significant cataract develops at a younger age in eyes with congenital coloboma than in eyes with typical age-related nuclear sclerotic cataract. Monocular diplopia, a potential complication after cataract surgery in these eyes, can be managed by pupilloplasty. The improved vision in this study indicates that phacoemulsification and IOL placement are safe and beneficial in patients with typical congenital coloboma and cataract.

Background: The prevalence and causes of blindness in children vary widely between regions. Few epidemiological data are available on the relative importance of the major congenital anomalies of the globe (i.e., microphthalmos, anophthalmos, coloboma) as causes of blindness in children. The aim of this study was to determine the re-gional variation in the proportion of severe visual impairment and blindness due to congenital abnormalities of the globe in children in schools for the blind and in those identified through Community Based Rehabilitation programs. Other objectives were to estimate the prevalence of blindness due to major congenital abnormalities, and to investigate their etiology., Methods: Data on the causes of blindness in children were collected between 1990 and 1998 using standard methods, definitions and reporting form in 26 countries. Children were examined in schools for the blind and in Community Based Rehabilitation programs., Results: Of 7,113 children aged 3-15 years with severe visual impairment and blindness examined, 762 (10.7%) had microphthalmos, 161 (2.3%) had anophthalmos, and 96 (1.3%) had coloboma. There are large regional differences in the proportion of severe visual loss in blind school children, ranging from 1.4% in Cuba to 33.2% in Sri Lanka. Severe visual loss due to congenital abnormalities of the globe is estimated to affect between 0.4 and 16.2/100,000 children in the countries studied. An underlying cause could not be identified in 84.2%., Conclusions: Major congenital abnormalities of the globe are important causes of severe visual loss in children, particularly in Asian countries. Further research into etiology is warranted in order to plan prevention programs.

Cochleovestibular dysfunction is one of the major features of C.H.A. R.G.E. association. The inner ear anomalies were studied in a population of 17 children with CHARGE. Temporal bone anomalies were defined with CT scan, hearing loss was evaluated with audiologic procedures appropriate for age, and functional canal and otolith vestibular impairment evaluated with respectively vertical and off vertical axis rotation (OVAR) tests. Temporal bone anomalies appear specific of C.H.A.R.G.E. association. They are characterized by an aplasia of the posterior labyrinth (with an absence of semicircular canals) and a variable degree of anomalies of the anterior labyrinth with sometimes normal cochlea. Hearing loss is variable, often worsened by delayed neurological maturity and frequent association of middle ear effusion. Thus, multiple audiologic evaluations are required at regular intervals. The treatment of middle ear effusion, the association of hearing aid and speech therapy management permit language acquisition in spite of the other multiple sensory handicaps. Vestibular functional evaluation shows a constant canal areflexia but a residual vestibular otolith function (sometimes normal). The deficit of the vestibular function is certainly involved in the delay of posturo-motor development as well as visual deficit and neurological impairment. This can permit an adaption of the physical therapy program for each child to make use of the available sensorial information.

Apple peel atresia of the small bowel is a rare congenital cause of intestinal obstruction. This case report describes a male patient with apple peel atresia and bilateral colobomatous malformation of the optic nerve heads in association with dysmorphic features and learning disabilities. In the absence of a positive family history, we propose that this collection of clinical findings could be due to a new dominant mutation or chromosomal microdeletion.

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.

Purpose: To report a patient with congenital constrictive malformations of the internal carotid arteries and a morning glory disc anomaly (MGDA)., Methods: Descriptive case report., Results: A 14-year-old girl underwent serial ophthalmologic examinations since the age of seven years because of blurred vision and floaters. A right optic disk anomaly was present that was most compatible with an MGDA accompanied by an inferior choroidal coloboma. Because of the association of such disc malformations with moyamoya disease, the patient underwent cerebral MRI and MRA that showed narrowing of both internal carotid arteries, a finding consistent with early-stage moyamoya disease., Conclusion: This case illustrates the importance of recognizing the association of MGDA with moyamoya disease, a treatable condition that may have devastating neurological consequences.

The present study is about a number of 19 cases (19 eyes), the patients having a congenital pit of the optic papilla (CPP) complicated with serous retinal detachment (SRD). The cases were selected, from a group of 41 patients with CPP. Average age of the cases was 37(31-54) years. The serous retinal detachment appeared under two different clinical appearances: the detachment of the internal retinal layers (DIRL) or retinal schisis, 10 cases, located between the papillae and macula, and involving the optic disc; the detachment of the external retinal layers (DERL), 9 cases, located within the macular area, without involvement of the optic disc. A number of 8 cases (42%) developed a macular hole, located within the external retinal layers. The cases with DIRL had better visual acuity, compared to those with DERL. This study proves the bilamellate character, of the serous retinal detachment. The disease starts with DIRL (retinal schisis), due to fluid passing at the level of the CPP and then DERL develops as a complication, following the degenerescence of the retinal layers within this area.

We report Meier's syndrome in two sisters, with combined macular pseudocoloboma and end-stage renal failure. The two sisters, aged 12 and 17 years, presented with a bilateral macular coloboma and slight myopic shift reducing visual acuity to 20/60 in one sibling and 20/100 in the other sibling. No other ocular abnormalities were present. The electroretinograms were normal. In both patients renal grafts were performed with good results. The mother and the 4 other siblings were unaffected. This observation underlines the need to check kidney function in case of bilateral pseudocoloboma.

We describe two original cases of internal carotid artery dysgenesis associated with a malformative spectrum, which includes transsphenoidal encephalocele, optic nerve coloboma, hypopituitarism, and hypertelorism. Cephalic neural crest cells migrate to various regions in the head and neck where they contribute to the development of structures as diverse as the anterior skull base, the walls of the craniofacial arteries, the forebrain, and the face. Data suggest that the link between these rare malformations is abnormal neural crest development.

The term CHARGE association refers to a combination of congenital malformations, the mnemonic CHARGE designating the most frequently occurring anomalies in the constellation. "C" indicates coloboma of the retina, "H" heart defects, "A" choanal atresia, "R" retarded growth and/or central nervous system anomalies, "G" genital hypoplasia, and "E" ear anomalies and/or deafness. The inner ear anomaly consists of a specific form of labyrinthine dysplasia that includes Mondini dysplasia of the pars inferior (cochlea and saccule) and complete absence of the pars superior (utricle and semicircular canals). We observed the development of a child with CHARGE association up to the age of 10 years. There was complete absence of nystagmic response to bithermal caloric and rotatory pendular stimuli. A nystagmic reaction was elicited by the off-vertical axis rotation test, indicating stimulation of the saccular macula, the sole remaining vestibular sense organ in this dysplasia. This reaffirms that the saccule is a vestibular organ, even though it is located in the pars inferior. In spite of the severe bilateral vestibular deficit and coloboma of the retina, the child was able to walk at the age of 2 years. The delay in the development of walking was not due to central nervous system anomalies, as suggested by the "R" of the acronym CHARGE, but rather, to the severe sensorineural visual and vestibular deficits.

Purpose: To report the unusual association of a coloboma of the lens with ipsilateral optic nerve hypoplasia and orbital hemangioma., Methods: Descriptive case report., Results: An eight-month-old girl had a gradually enlarging left orbital hemangioma. There was an ipsilateral temporal coloboma of the lens with a remnant of the pupillary membrane attached to the anterior lens capsule in the central region of the coloboma. The left optic nerve head was one half the size of the right one., Conclusion: The occurrence of intraocular malformations with an ipsilateral orbital vascular malformation may be the result of a developmental ocular and periocular field defect.

Colobomatous orbital cyst with microphthalmos is a rare anomaly occurring during embryogenesis. The authors describe a case of colobomatous orbital cyst with microphthalmos in a three-month-old child underlying the difficulties of clinical diagnosis and emphasizing the role of radiologic investigations. It is only the histopathologic study which allows the final diagnosis. From the informations given by this observation, the authors discuss the pathogenic, diagnostic, histopathologic and therapeutic characteristics of this disease.

Ten out of 20 cases with the CHARGE association and two CHARGE-like cases underwent temporal bone CT scanning and/or MRI: they all showed bilateral aplasia of the semicircular canals and obliteration of the oval windows. Vestibular examination was performed in nine CHARGE cases and the two CHARGE-like cases, which disclosed vestibular areflexia in all of them. Of the 16 evaluable CHARGE cases, eight had bilateral mixed hearing impairment, while eight had sensorineural hearing impairment which was bilateral in six and unilateral in two cases. Temporal bone CT scanning is therefore indicated in suspected CHARGE cases, even if they show normal hearing or a relatively good bone conduction threshold in one or both ears.

Retinoblastoma and congenital ocular abnormalities rarely coexist. The appearance of an intraocular tumor in a child with preexisting leukokoria may make the diagnosis of retinoblastoma more challenging. This report describes a unique case of unilateral congenital uveal coloboma and ipsilateral retinoblastoma in a patient with no family history of either abnormality and normal cytogenetic analysis.