Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “MICROPHTHALMOS”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 325 records · Page 18Linked to original sources
PubMed1981

Congenital esophageal stenosis due to tracheobronchial remnants and its associated anomalies.

Two cases of congenital esophageal stenosis due to tracheobronchial remnants are reported, one accompanied by anovestibular fistula and the other by microphthalmos with iris coloboma. A survey of congenital esophageal stenosis due to tracheobronchial remnants in Japan revealed that the incidence of associated anomalies in this lesion is 17.3% This value is significantly lower than that reported for esophageal atresia. Our analysis showed that esophageal atresia is the most frequently associated anomaly, followed by anorectal abnormalities. Cardiovascular anomalies are very uncommon. Embryology relating to this subject is discussed.

Bronchi↗
PubMed1983

Autosomal recessive eye and brain anomalies: Warburg syndrome.

Two siblings are reported who appear to have an autosomal recessive disorder of eye and central nervous system anomalies. The findings in fourteen previously described and similarly affected patients are summarized. Ocular anomalies include microphthalmos, megalocornea, the Peter anomaly, cataract, coloboma, persistent hyperplastic primary vitreous, and retinal detachment with retinal dysplasia. Central nervous system malformations include agyria-pachygyria, cerebellar dysplasia, encephalocele, Dandy-Walker cyst, and hydrocephalus. We suggest that this disorder be known as Warburg syndrome.

Brain↗
PubMed1998

Presenting signs of retinoblastoma.

A retrospective chart review was performed on the charts of 1265 patients with retinoblastoma who were on file at New York Hospital and whose conditions had been diagnosed between the years 1960 and 1990. The mean follow-up was 90 months, ranging from 0 to 409 months. Thirty-two distinct presenting signs of retinoblastoma were identified, the most common of which were leukocoria (56.2%), strabismus (23.6%), poor vision (7.7%), and family history (6.8%). No correlation was found between any of the presenting signs and laterality, sex, race, or survival. Leukocoria correlated to Reese-Ellsworth Group Va or Vb, whereas strabismus was invariably associated with either macular tumors or macular retinal detachments. Eighty-three (96.5%) patients presenting with a family history did so before the age of 24 months. The presenting sign leading to a diagnosis of retinoblastoma was correlated with degree of advancement and tumor location. Leukocoria and strabismus are the most common presenting signs, with leukocoria correlated to more advanced disease and strabismus always associated with macular involvement. Vitreous hemorrhage (1 case, 0.1%), microphthalmos (4 cases, 0.3%), and orbital cellulitis (3 cases, 0.2%) are extremely rare presenting findings in retinoblastoma.

Child↗
PubMed1995

The optokinetic response differences between congenital profound and nonprofound unilateral visual deprivation.

BACKGROUND: The occurrence of monocular naso-to-temporal optokinetic nystagmus (OKN) asymmetry, as a reflection of the immature oculomotor system in infants, and its persistence with early onset monocular visual deprivation, is well known. This asymmetry has been linked with poor binocular function and attributed to disruption of the development of binocular cortical projections to the pretectum. Optokinetic nystagmus symmetry in patients with congenital uniocular total pattern vision deprivation has not been fully investigated. METHODS: The authors compared the optokinetic responses in six children with "profound" uniocular visual deprivation, who were born with untreated conditions (microphthalmos and persistent hyperplastic primary vitreous), with ten aphakic children treated early for congenital unilateral cataracts (nonprofound unilateral visual deprivation). Eye movements were recorded using dc-electro-oculography, and OKN was elicited using a full-field patterned curtain. Flash and pattern visual-evoked responses were also measured in each subject. RESULTS: Latent nystagmus was present in six children in the nonprofound group, whereas none was detected in the profound group. All children in the nonprofound group showed statistically significant monocular naso-to-temporal asymmetry for either eye. Subjects in the profound group had symmetric OKN. CONCLUSIONS: The authors conclude that unequal input from the two eyes and interocular rivalry lead to OKN asymmetry. Their results suggest that if vision from one eye is so negligible that it does not compete with the neuroanatomic connections of the fellow eye, then the input from this eye remains undisturbed, and OKN remains symmetric.

Adolescent↗
PubMed1995

Growth of the internal and external eye in term and preterm infants.

BACKGROUND: Better knowledge of the growth patterns of the external and internal eyes of neonates would permit more accurate diagnosis of disorders that affect ocular size such as infantile glaucoma and microphthalmos. Such disorders preferentially may affect certain parts of the internal eye but not other parts. No previous study statistically has evaluated internal ocular growth in preterm newborns. METHODS: A-scan ultrasonography was applied directly to the corneas of 101 healthy preterm and term newborns to determine axial length, anterior chamber depth, lens thickness, and vitreous chamber depth. The growth of these structures was evaluated by correlation and regression analyses. RESULTS: At term, the mean measurements were axial length, 16.2 mm; anterior chamber depth, 2.0 mm; lens thickness, 3.8 mm; and vitreous chamber depth, 10.5 mm. Postconceptional age correlated to axial length (P < 0.001), anterior chamber depth (P = 0.032), and vitreous chamber depth (P < 0.001), but not to lens thickness (P = 0.48). By regression analysis, the eyes of males grew faster than those of females (P < 0.001) mainly due to the vitreous chamber. CONCLUSION: In the last trimester and first 2 postnatal months, lens thickness remains constant, while the anterior chamber and, especially, the vitreous chamber deepen.

Anterior Chamber↗
PubMed1996

Ophthalmic manifestations of Smith-Magenis syndrome.

PURPOSE: The Smith-Magenis syndrome (SMS) is a multiple-anomaly, mental retardation syndrome associated with deletions of a contiguous region of chromosome 17p11.2. Prior reports have described ophthalmic anomalies with SMS, including telecanthus, ptosis, strabismus, myopia, iris anomalies, cataracts, optic nerve hypoplasia, and retinal detachment. This report defines the ophthalmic spectrum in 28 individuals with SMS subjected to a multidisciplinary clinical and molecular survey. METHODS: Individuals with deletion of chromosome 17p11.2 detected by high-resolution cytogenetic analysis underwent complete ophthalmologic evaluation comprised of ophthalmic history, visual acuity, cycloplegic refraction, motility, and biomicroscopic and ophthalmoscopic examination. RESULTS: Among the 28 subjects, ranging in age from 0.8 to 29.3 years, the most frequent ocular findings were iris anomalies (68%), microcornea (50%), myopia (42%), and strabismus (32%). Bilateral microphthalmos with uveal and retinal coloboma was observed in one individual. No subject had cataract or retinal detachment. CONCLUSIONS: This is the largest single-center series of subjects with SMS that includes ophthalmic evaluation. As in prior reports, iris anomalies and strabismus were observed, but microcornea had not been noted previously. The absolute refractive error was hypermetropic in half of these subjects. Cataract, ptosis, and retinal pathology, including detachment, were not observed in any subject. All individuals with SMS should be evaluated by an ophthalmologist, with special attention to strabismus, microcornea, iris anomalies, and refractive errors.

Abnormalities, Multiple↗
PubMed1998

The effect of buphthalmos on orbital growth in early childhood: increased orbital soft tissue volume strongly correlates with increased orbital volume.

PURPOSE: Our purpose was to evaluate the effect of increased orbital soft tissue volume on orbital growth. METHOD: Patients with unilateral or significantly asymmetric bilateral buphthalmos as determined by axial computed tomography scan were recruited. Volumetric determinations of the bony orbit with use of axial 1.5 mm sections on computed tomography were undertaken. Statistical analysis of the paired ocular length measurement and bony orbital volume measurements for each patient were performed. RESULTS: Eight patients (mean age 41 months) with a 15% or greater difference in axial length were enrolled. The mean axial length of the buphthalmic globes was 23% greater than that of the contralateral globes. Orbits harboring a buphthalmic globe had an orbital volume 11% greater than on the contralateral side. CONCLUSION: Increased orbital soft tissue volume as evidenced by buphthalmos was significantly associated with enlarged bony orbital volume. This indicates that soft tissue volume is a determinant of orbital volume and suggests that orbital tissue expanders might enhance bony development in patients with anophthalmos or microphthalmos and after early enucleation.

Bone Development↗
PubMed2002

Outcome after treatment of congenital bilateral cataract.

PURPOSE: To evaluate long-term functional outcome after treatment of dense congenital bilateral cataract. METHODS: The records of 22 consecutive children operated on before the age of 12 months at St. Erik's Eye Hospital over a 5-year period (1991-96) were reviewed retrospectively. Linear Snellen visual acuity (VA) at last check, presence of stereoacuity, nystagmus, strabismus and other complications are accounted for. Subject age at last check ranged from 4 to 9 years. RESULTS: Visual acuity could be estimated in 19 children: the median VA of the better eye was 0.4 (range: counting fingers - 0.8) and of the fellow eye 0.15 (range: amaurosis - 0.8). In nine otherwise healthy children who were operated on early (by 1 month of age), VA varied from 0.4 to 0.8 in the better eye. Four of these children achieved stereopsis. Pupillary block glaucoma developed in five eyes (in three children). Chronic glaucoma developed in eight eyes (in five children). Glaucoma occurred predominantly in children who underwent cataract extraction during the first week of life. Two of the latter had marked microphthalmos. CONCLUSION: Good postoperative VA was achieved in most healthy children with dense bilateral congenital cataract when surgery was performed early (before 6-8 weeks of age). Chronic glaucoma developed predominantly when cataract extraction was performed during the first week of life.

Cataract↗
PubMed1988

The management of congenital malpositions of eyelids, eyes and orbits.

Congenital malformations of the eye and its adnexa which are multiple and varied can affect the whole eyeball or any part of it, as well as the orbit, eyelids, lacrimal ducts, extra-ocular muscles and conjunctiva. A classification of these malformations is presented together with the general principles of treatment, age of operating and surgical tactics. The authors give some examples of the anatomo-clinical forms, eyelid malformations such as entropion, ectropion, ptosis, levator eyelid retraction, medial canthus malposition, congenital eyelid colobomas, and congenital orbital abnormalities (Craniofacial stenosis, orbital plagiocephalies, hypertelorism, anophthalmos, microphthalmos and cryptophthalmos).

Eye Abnormalities↗
PubMed1995

Childhood blindness in India: causes in 1318 blind school students in nine states.

It is estimated that at least 200,000 children in India have severe visual impairment or blindness and approximately 15,000 are in schools for the blind. Although this represents a small percentage of the estimated 5 million blind in India, it is significant in terms of 'blind-years'. Strategies to combat childhood blindness require accurate data on the causes to allocate resources to appropriate preventive and curative services. Since socio-economic factors vary in different areas of this industrializing country data should be representative of the country as a whole. This is the first multi-state study to be undertaken in India using the Record for Children with Blindness and Low Vision from the World Health Organization/PBL Programme. A total of 1411 children in 22 schools from nine states in different geographical zones were examined by an ophthalmologist and optometrist. Of these, 1318 children were severely visually impaired or blind (SVI/BL). The major causes of SVI/BL in this study were: (1) corneal staphyloma, scar and phthisis bulbi (mainly attributable to vitamin A deficiency) in 26.4%; (2) microphthalmos, anophthalmos and coloboma in 20.7%; (3) retinal dystrophies and albinism in 19.3%; and (4) cataract, uncorrected aphakia and amblyopia in 12.3%. This mixed pattern of causes lies in an intermediate position between the patterns seen in developing countries and those seen in industrialised countries. The causes identified indicate the importance both of preventive public health strategies and of specialist paediatric ophthalmic and optical services in the management of childhood blindness in India.

Adolescent↗
PubMed2006

A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region.

Partial absence of the sacrum is a rare congenital defect that also occurs as an autosomal-dominant trait, whereas imperforate/ectopic anus is a relatively common malformation, usually observed in multiple congenital anomalies syndromes. We report on a girl born to healthy consanguineous parents (first cousins once removed) with anal imperforation and associated rectovaginal fistula and partial sacral agenesis. Facial dysmorphism included a high forehead, epicanthic folds, downslanting palpebral fissures, hypertelorism and a depressed nasal root. Brain MRI showed a bilateral opercular dysplasia with a unilateral (right) pachygyria; MRI and X-ray imaging of the spine disclosed a tethered cord associated with partial sacral agenesis. She showed a moderate developmental delay. Ophthalmologic examination evidenced bilateral microphthalmos and relative microcornea. Cytogenetic studies in our patient disclosed a pure de novo 6q25.3 --> qter deletion. By genotype analysis, we detected in our patient a maternal allele loss encompassing D6S363 and D6S446. Pure distal 6q deletion is a rare anomaly, reported in association with sacral/anorectal malformations (sacral agenesis, anal imperforation/ectopia) and never with cortical dysplasia. Pooling deletion mapping information in patients with pure terminal and interstitial 6q deletion allowed us to define a critical region spanning 0.3 Mb between the markers D6S959 and D6S437 for sacral/anal malformations. We hypothesize that haploinsufficiency for a gene within the deleted region may impair normal development of caudal structures, possibly acting on the notochordal development. European Journal of Human Genetics (2006) 14, 971-974. doi:10.1038/sj.ejhg.5201635; published online 17 May 2006.

Abnormalities, Multiple↗
PubMed2000

[Clinical anophthalmos. Cosmetic outcome after 2 years therapy with an orbital expander for stimulating orbital growth].

BACKGROUND: Congenital anophthalmos is a rare condition in which intervention in an early age can stimulate orbital expansion. The therapeutic goal was to allow retention of a suitable prosthesis and to maximise facial symmetry. METHODS AND PATIENTS: We report on 3 anophthalmic newborn male patients, of which one presented with microphthalmos in the other eye as well as associated systemic disorders. Solid moulded shapes were adapted and manufactured out of methylmethacrylate to increase expansion of orbital soft tissue and bone. The moulding of the orbita was performed by silicone made of two components under general anaesthesia during the first two years of life. The following day the solid shapes were fitted in the outpatient department. They were increased in size when they started to rotate within the orbit or when the eyelids were relatively loose around the solid shape. The initial insertion of the orbital expander was performed in the first weeks after birth and was repeated every 3 to 6 weeks within the first year of life. The degree of orbital expansion was determined by measurements of the horizontal eyelid length, the volume of the solid shapes, by measuring the volume in cm3 of water displaced by the shape after submerging it in a cylinder of water and assessment of the cosmetic aspect. RESULTS: Within 8 months of therapy a horizontal eyelid lengthening to 10 mm and an increase of the volume of the orbital expander from 1.5 cm3 to 6 cm3 was achieved in patient 1. After 20 months of therapy patient 2 showed symmetry of the face and the horizontal eyelid length. In patient 3 therapy started 3 years late and after 2 years only a horizontal eyelid lengthening of 3 mm and a suboptimal symmetry of the face was achieved. CONCLUSION: Our own experience suggests that early prosthetic fittings are necessary for an ideal cosmetic outcome. Motivation and cooperation of the parents is an important factor to achieve optimal results.

Anophthalmos↗
PubMed2004

[The methodology and accuracy of MRI-based orbital volume calculations].

OBJECTIVE: The aim of the present work was to establish a method for orbital volume calculation based on MR scanning data for the sake of better radiation hygiene. MATERIALS AND METHODS: The orbital volumes of 35 ophthalmologically healthy children were calculated on the basis of MRI scans. After data transfer to a separate workstation, volumetric analysis was carried out by two independent radiologists using semi-automated software. The accuracy of the calculated values was compared with orbital volumes measured by anatomic preparations and given in studies by various authors. RESULTS: Volume calculation was possible in all patients using MRI data. There is an acceptable agreement with the presented anatomic facts and the measured values of Bentheley. In the Wilcoxon test there was not a big difference between the courses of the values (p = 0.507). CONCLUSION: Even though we can obtain a better image of the bizarre structure of the bony orbits with CT, MR-based volumetry of the orbit is a reliable method and is not burdened by radiation exposure. It can thus be an important condition for the planning and the controlling of modern therapeutic concepts in treating anophthalmos and microphthalmos.

Aging↗
PubMed2004

[Orbital volume in congenital clinical anophthalmos].

INTRODUCTION: The purpose of this study is to report orbital volume measurement results in patients with congenital clinical anophthalmia before and after therapy and to compare them with normal values. PATIENTS AND METHOD: Normal values were obtained from 35 healthy children (22 boys, 13 girls; aged 3 month to 7 years) in whom MRI was done for non-ophthalmological reasons. 18 patients with congenital anophthalmos could be included, 9 with bilateral, 8 with unilateral disease and 1 microphthalmos. 6 of them had MRI follow-up (more than one examination). RESULTS: Orbital volume at birth is 7 ml and it increases with age: Orbital volume = 7.701 x age (month) (0.2484) ml. It is around 14.2 ml at the age 1 year, 17 ml with 2 years and reaches 23 ml with 7 years. In unilateral clinical anophthalmos orbital volume is 35 to 58 % compared with the healthy side and 31 to 65 % compared with the normal values. In bilateral cases the volume is 43 to 70 % of the normal value. During treatment it develops in parallel to the normal values. CONCLUSIONS: The normal values measured by our group are in accordance with the only published study by Bentley . MRI orbital volumetry is a reliable method without using radiation. It allows us to quantify the bony asymmetry and is suitable for therapy control when using orbital expanders. The congenital missing eye might be the most important reason why the orbit does not develop in the normal way to a normal size. Self-inflating high, hydrophilic hydrogel expanders do not seem to be able to compensate this, in spite of the fact that they work very well to prepare the socket for a prosthesis.

Aging↗
PubMed1995

Prenatal sonographic diagnosis of Treacher Collins syndrome: a case and review of the literature.

We report the prenatal ultrasonographic diagnosis of a fetus with mandibulofacial dysostosis (Treacher Collins syndrome). Sonographic findings included: polyhydramnios, microcephaly, abnormal fetal facial features (slanting forehead, microphthalmos, micrognathia), and abnormal fetal swallowing. A review of the current literature pertaining to prenatal diagnosis of this condition is presented.

Adolescent↗
PubMed1982

[Clinical picture and inheritance of ocular symptoms in arteriohepatic dysplasia (author's transl)].

Systematic examination of four children suffering from arteriohepatic dysplasia and of members of their families revealed with diminishing frequency, the following symptoms: icterus episcleralis, posterior embryotoxon, gray-yellowish precipitations in the retina, microphthalmos, corectopia with rudimentary coloboma of the iris, xanthomatosis retinae and atrophy of the optic nerve. The parents of the children presented with minor symptoms such as dysplasia iridis, arcus lipoides and hyperlipemic vascular signs in the retina. Differential diagnostic considerations suggest a hereditary disease, the pathogenesis of which is not completely clear.

Abnormalities, Multiple↗
PubMed2003

Congenital blindness and osteoporosis-pseudoglioma syndrome.

Isteoporosis-pseudoglioma syndrome (OPPG) is a rare heritable entity that features severe osteoporosis and many variable ophthalmic findings leading to congenital or juvenile blindness. These include microphthalmos, cataracts, bilateral pseudogliomatous retinal detachments, and phthisis bulbi. OPPG is usually not suspected until fractures occur, frequently after seemingly minor trauma. We report the ophthalmic findings of an infant girl with OPPG.

Arthrography↗
PubMed2002

Prevalence and causes of severe visual impairment and blindness in children in Mongolia.

BACKGROUND: Reliable epidemiological data on the prevalence and causes of visual loss in children are difficult to obtain, but are essential for planning. No such data are available from Mongolia. AIM: To determine the prevalence and causes of severe visual impairment and blindness (SVI/BL) in children from a defined area of Mongolia, using several methods of identification. METHODS: Children with presenting visual acuities of <6/60 in the better eye who lived in 10 of the 18 provinces (Aimaks) were identified 1) by family doctors 2) in the school for the blind 3) by visiting eye departments in the capital. All eligible children were examined (or data extracted from hospital records) and the cause of visual loss determined using the WHO classification system. RESULTS: Sixty-four children with SVI/BL before refraction were identified who lived in the 10 study Aimaks. They were recruited by family doctors (52); by home visits (3); from hospital records (4); or from the school for the blind (5). The prevalence of SVI/BL before refraction was 0.19/1,000 children (95% CI 0.16-0.22), decreasing to 0.16/1,000 after refraction (95% CI 0.13-0.19) but there was considerable variation from Aimak to Aimak. The major causes of SVI/BL were lesions of the lens (34%), central nervous system disorders (19%), lesions of the whole globe (e.g. microphthalmos) (14%), and retinal conditions (12.5%). Hereditary factors were responsible for 27% of causes, and 17% of children were blind following acquired conditions of childhood. The underlying cause could not be determined in 48%. The causes of SVI/BL was analysed in a further 16 children who lived outside the study Aimaks to compare the causes in children in special education with those not in schooling, and by age. CONCLUSION: The prevalence estimate obtained was lower than anticipated, and possible reasons are discussed. The pattern of causes of SVI/BL is similar to that in children in schools for the blind in China, but is very different from other Asian countries. Meningococcal meningitis was the most common preventable cause of SVI/BL, and immunisation is being considered. Other preventable causes were rare, and the majority of children needing surgical intervention had already been identified and referred for treatment. The control of blindness in children could possibly be improved by better management of conditions requiring surgery, and by the provision of low vision devices.

Adolescent↗