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The main features of Aicardi's syndrome are infantile spasms, defects of the corpus callosum, chorioretinopathy, mental subnormality, characteristic EEG changes, vertebral anomalies, microphthalmos and colobomata. The disease affects only the female sex. 2 cases are described from our own experience.
It is presented a month old child, with unilateral microphthalmos and bilateral malformations of the auricle, manifestations considered as a form of Goldenhar syndrome. This case bengi in that family, the malformation is considered as a phenocopy resulted from the action of a teratogen factor, beginning from the 21 day of the embryonic life.
One case of congenital esophageal stenosis due to tracheobronchial remnants and associated with microphthalmos and corneosclera is reported. Diagnostic and therapeutic methods employed are discussed.
The present paper reports on the case of an 18-year-old man with congenital cataract and microphthalmos of the left eye, divergent strabismus and sursum vergens. Macular degenerative lesions were also present in the right eye, hypoplasia of the iris in both eyes and fixation nystagmus with equal jerks in both directions. The general physical examination showed congenital atrial septal defect. The morbid cardiac and ocular association plead for rubella embryopathy.
A Brahman x Santa Gertrudis herd of cows bred to a Hereford bull was evaluated because of a 3-year history of several calves born with congenital blindness. Multiple congenital ocular anomalies in 2 calves included microphthalmos, microcornea, microcoria, heterochromia iridis, microlentia, cataracts, retinal dysplasia, retinal detachment, anterior segment dysgenesis, acorea, and proliferation of the anterior neuroectoderm. On the basis of the lack of environmental factors and persistence of an intermittent problem when breeding to a single bull, a genetic defect was diagnosed as the probable cause. Dominant inheritance with varied expressivity may have best explained the lack of obvious signs in the bull, with emergence of various anterior and posterior segment defects in offspring from unrelated cows.
A three-month-old infant was referred with bilateral corneal opacities and microphthalmos. Pediatric examination as well as genetics consultation resulted in a diagnosis of the cerebro-oculo-facio-skeletal syndrome and should be included in the differential diagnosis of congenital cloudy corneas.
Because of the presence of microphthalmos and cataract and the absence of auricular deformations the François syndrome belongs to neither the craniofacial nor the mandibulofacial dysostoses. TeleXray measurements revealed forward dislocation of the mandibular joint. A proposal to speak of basocraniofacial dysostosis in the cases of Hallermann-Streiff-François is made.
The authors analyze and compare the teratogenic effects produced on the embryo eyes of rats by Maumee saccharin, by non purified Remsem saccharin and several pollutants. The study has been made on 2708 embryos of rats whose mothers have received per os several pollutants at several rates; 16 diets have been studied. The histological lesions are described: the cataract, the retinal coloboma, the major microphthalmos, the anophthalmos, the presence of aberrant nervous fibers, the anarchic globes. The authors describe the retinal eversion phenomenon in the retinal coloboma as well as its repercussion on the ocular malformations (retinal dysplasia and colobomatous cyst of the orbit). The presence of aberrant nervous fibers inside the retinal coloboma could explain the cases of double papilla, which were observed in clinic. The major microphthalmia are frequent. The serious anophthalmia are explained by an early perturbation of the embryogenesis. The anarchic globes could be interpreted as a form of congenital cystic eye. Under the different pollutants of the saccharin, four of them are more toxic: it is the ortho-sulfobenzoic acid, the para-sulfobenzoic acid, the para-sulfamolybenzoic acid, the para-toluenesulfonamide which communicate the Remsen saccharin its teratogenic effect. On the other hand, the ortho-toluene sulfonamide is without any teratogenic effect. The authors conclude on the necessity of a large purity of the commercial saccharin.
The case of an 11-year-old boy with hypermetropia of +22.0 diopters is reported. Axial length was only 14.8 mm. The features and extreme rarity of this variation in the shape of the globe is outlined. The dimensions of the eyeball were measured by echography and compared to the emmetropic eye of the adult. Only vitreous length was found to be shortened, while the dimensions of the anterior segment were within normal limits. The term posterior microphthalmos without microcornea was chosen. Associated pseudopapilledema and choroidal folds were found. The literature is reviewed.
Two cases of rubeolic pigmentary retinopathy with multiples anomalies at congener eye are presented. Both two cases present at congener eye microphthalmos and congenital cataract with uveitis in the first case and convergent strabismus and retard psychomotor in the second case. The retinal lesions are disseminated in all retinal surface in one observation, and only in the temporal retinal area in the second one. These retinal lesions associated with other ocular anomalies are characteristic for rubeolic etiology.
A case is described of a 4-month-old boy presenting with a bilateral microphthalmos with cyst. Detailed examination of one eye and cyst suggested that the cyst was atypical and represented an attempt at the formation of an extra eye on the same optic stalk. Such a developmental anomaly has not been described before and the term 'diophthalmos' is proposed as an appropriate name.
The Upjohn Pharmaceuticals Limited (UPL) rat is a new dominant hereditary cataract model with two types of cataract formation, early onset (E-type) and late onset (L-type). In the UPL E-type rat cataracts have formed by the time the eyes open. The E-type rat also develops microphthalmos and buphthalmos. In this study, histological observations of cataract development in the E-type rats were performed during the period of fetal development, at birth and at 1, 3 and 62 weeks of age. In addition, the distribution of alpha- and gamma-crystallins in the developing lens was determined using anti-crystallin antisera. Abnormal elongation of the lens fibers was first observed on the 13th day of gestation. Stratification of lens epithelial cells was present on the 19th day of gestation and this change became more severe with age. There was no alteration in alpha- and gamma-crystallin expression during the fetal period. The continuity between the lens epithelial cells and lens fibers was lost at 3 weeks of age and it was assumed that differentiation of lens epithelial cells had ceased. These findings suggested that development of the UPL rat E-type cataract was related to an early abnormality in lens cell differentiation not involving crystallin expression.
BACKGROUND: Epidemiological research using patient records faces considerable uncertainty regarding requirements for local ethical review, confidentiality of data and patient permission. SETTING AND DESIGN: We report the experiences of the national study of clustering and geographical variation in anophthalmos and microphthalmos, which, from 1994, has been compiling a register of affected children born in England since 1988. The information is obtained from clinicians and local health authority records without any direct contact with patients or their families. RESULTS: Of 110 district health authorities, 47 required ethical approval. Only one committee accepted the approval of any other committee. Procedures and application forms varied widely. Fewer than one-fifth of the forms completed asked about compliance with the Data Protection Act, yet confidentiality safeguards must be the foremost ethical issue faced by the study. Two committees required that the study inform GPs and two committees required that the study obtain parental permission. DISCUSSION: While new mechanisms including regional committees are being established, there is an urgent need for a standard application form to save time and resources for research. Continuing lack of consistency about the need for subject (parental) permission impedes the proper design and costing of research.
OBJECTIVE: To report the ocular abnormalities found in children born after in vitro fertilization. METHODS: Forty-seven children (25 girls and 22 boys) born after an in vitro fertilization pregnancy (mean +/- SD birth weight, 2335 +/- 817 g; range, 924-4300 g) and referred for ophthalmic evaluation were included in the study. All underwent a thorough ocular examination. Obstetric history was gathered following a detailed questionnaire with the mothers. RESULTS: Of 70 eyes among nonverbal children, visual acuity was "normal for age" in 60 (86%), "fair" in 4 (6%), and "poor" in 6 (9%). Visual acuity in 24 eyes in verbal children ranged from 6/6 to no light perception, with 4 (17%) having poor vision. Cycloplegic refraction disclosed an emmetropia in 22 (27%), hypermetropia in 47 (57%), and myopia in 13 (16%) of the eyes. Anisometropia of more than 1.0 diopters was found in 8 children. Major ocular malformations were observed in 12 (26%) of the 47 children. These malformations included Coats disease, congenital cataract, congenital glaucoma, hypoplastic optic nerve head, idiopathic optic atrophy, coloboma with microphthalmos, and retinoblastoma. CONCLUSIONS: Ocular anomalies were frequently observed in this cohort of offspring born after in vitro fertilization. A diligent and prospective prenatal search for such malformations should unveil the real prevalence of ocular malformations in children born after in vitro fertilization.
OBJECTIVES: To describe a Brazilian family with oculodentodigital dysplasia (ODDD) and to screen for mutations in the gap junction protein alpha 1 (GJA1) gene in this family. METHODS: Twelve members of a 3-generation family with ODDD underwent screening for mutations of the GJA1 gene and a comprehensive ophthalmic examination. We defined ODDD on the basis of clinical characteristics described in this syndrome (microdontia, caries, enamel hypoplasia, thin nose, and syndactyly) and eye abnormalities such as microphthalmos, iris atrophy, and glaucoma. Direct sequencing of the GJA1 gene was performed using DNA collected from peripheral blood. A control group of 60 healthy individuals underwent evaluation by means of enzyme digestion. RESULTS: Among the 8 members of this family who were characterized as having ODDD, 2 showed chronic angle-closure glaucoma, and 1 had open-angle glaucoma. A new mutation in the GJA1 gene was identified, consisting of a change from proline to histidine at codon 59. This mutation segregated through members with the ODDD phenotype. Analysis of the control group by means of restriction fragment length polymorphism (MvaI enzyme) did not disclose this mutation. CONCLUSION: Our results demonstrate a new mutation (P59H) in the GJ1A gene, identified in a family with ODDD syndrome. Clinical Relevance The presence of different forms of glaucoma in families with ODDD may indicate a new mutation in the GJA1 gene.
Congenital anomalies are rare in infancy following maternal varicella during pregnancy. Abnormalities do occur, however, and form a specific pattern including cicatrical skin lesions, atrophic limb, low birth weight, and chorioretinal scarring. We saw an infant who had immunologic evidence of varicella-zoster virus contact in utero, microphthalmos of one eye, and chorioretinal scarring of the fellow eye. Ophthalmologists confronted with such ocular anomalies in children should inquire about the possibility of maternal varicella during pregnancy. Conversely, infants born of mothers known to have had varicella during pregnancy should be examined for fundus abnormalities.
X-linked mental retardation (XLMR) is genetically heterogeneous and clinically variable. We describe a new XLMR syndrome of severe mental retardation and multiple congenital anomalies. Two sisters have (with 3 different partners) 3 severely handicapped sons. In 2 cases, oligohydramnios and intrauterine growth retardation were noted. Common anomalies included a square-shaped face, high and broad forehead, frontal bossing, downward slant of palpebral fissures, hypertelorism, epicanthic folds, long philtrum, thin upper lip, and apparently low-set ears. One boy has bilateral microphthalmos and sclerocornea, and his cousin has atrophy of the optic nerve. All 3 patients are blind and have profound statomotor and mental retardation, seizures, and a grossly abnormal electroencephalographic pattern. Additional findings are short stature, delayed bone maturation, hydronephrosis, vesicorenal reflux, cryptorchidism, clinodactyly of the 5th fingers, and transverse palmar creases. The karyotype is normal (46,XY). Segregation analysis showed perfect coinheritance between the clinical phenotype and alleles at several loci in Xp22.3, whereas recombinants were identified with marker loci from Xp22.2-qter. Analysis of multiple informative meioses suggests that the disease locus maps in Xp22.3 distal to DXS16.
A holoprosencephaly, hypertelorism, and ectrodactyly syndrome (HHES) was described in three previous cases in whom chromosomes were apparently normal. We report on a 3-year-old boy with HHES and a de novo apparently balanced t(2;4)(q14.2;q35) confirmed by fluorescent in situ hybridization. He had severe growth and mental retardation, lobar holoprosencephaly, hypertelorism, microphthalmos, and iris, choroid, and retina colobomata. Less-severe facial involvement correlates with the semilobar type of holoprosencephaly; limb defects consisted of foot ectrodactyly and syndactyly. All previous HHES cases were sporadic and of unknown cause. A cryptic imbalance secondary to the translocation (2;4) in our patient may explain the phenotype.