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Congenital nonprogressive facial hemiatrophy is reported in association with anisometropia and ipsilateral cornea, iris, angle abnormalities, and juvenile glaucoma. The importance of complete ocular examination in patients with this uncommon abnormality is emphasized.
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A 10-year-old boy with reciprocal translocation between chromosomes 17 and 18- 46XY,t (17;18) (q25; q21), appeared cytogenetically balanced. The patient was a healthy, thriving boy whose main abnormal feature was moderate mental retardation. However, abnormal ocular signs were present, including macular "fibrosis", optic disc abnormalities with a traction retinal detachment, tapeto-retinal degeneration, and tilting of the disc to the nasal side. These changes are consistent with the ocular changes previously described in the 18q- syndrome, suggesting that there has been a minimal deletion of chromosome material at the 18q21 breakpoint. The case also demonstrates that the ocular changes of the 18- syndrome may be progressive.
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Anticonvulsants remain necessary during pregnancy and the removal of such drugs is not recommended. However, on the available evidence, the physician may expect an increased risk of malformation including eye abnormalities as has been outlined. The abnormalities include growth deficiencies and delayed motor/mental development together with dysmorphic features, the most common of which seems to be cleft lip/cleft palate. Additionally, many of these children suffer from eye abnormalities including hypertelorism, ptosis, strabismus, epicanthal folds, and in this case abnormalities of the lacrimal apparatus.
Pathogenic variants of genes encoding initiation factors can cause neurological diseases, including neurodevelopmental disorders and brain abnormalities. The eukaryotic translation initiation factor 1 A, X-linked (EIF1AX) is a gene located at Xp22.12 that plays an important role in the regulation of translation initiation. Here, we identified de novo hemizygous EIF1AX variants in male individuals with neurodevelopmental disorders and explored their possible involvement in these neurological disorders. We performed trio-based exome or whole genome sequencing in four families. The pathogenicity of EIF1AX variants was evaluated using a molecular dynamic simulation and transgenic Drosophila models. We identified four de novo hemizygous EIF1AX variants in four male individuals with variable neurodevelopmental delay, dysmorphic features, behavioral problems, ophthalmological abnormalities, and structural abnormalities in the brain. One variant was predicted to cause a splicing alteration, and minigene analysis confirmed exon skipping leading to the generation of a premature termination codon. In transgenic Drosophila harboring wild-type (WT) EIF1AX or the three other EIF1AX missense variants, overexpression of WT and the p.(Asn17Asp) variant caused structural abnormalities in the compound eye, whereas the p.(Lys64Glu) and p.(Asp90Gly) variants significantly reduced these eye abnormalities. In addition, WT overexpression resulted in significant axonal toxicity in the Drosophila optic nerve, causing a significant reduction in the number of axons, whereas all mutants showed only a mild reduction in axonal number. Our findings indicated that all variants resulted in different degrees of EIF1AX loss-of-function. Overall, EIF1AX is a novel gene for which loss-of-function variants appear to produce syndromic neurodevelopmental disorders in males.
Cytogenetic studies were performed on a severely mentally retarded adolescent with multiple congenital abnormalities (congenital heart disease, cryptorchidism and infantilism, rocker bottom feet and eye abnormalities). He had a complex rearrangement as a result of three breaks of chromosome 3 and two breaks of chromosome 5, and haphazard reunion of the fragments. This complex rearrangement appears balanced. The loss of very small chromosome fragments is perhaps the cause of the dysmorphia. The possibility of position effect is discussed.
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Association of ocular, cervical, and cardiac anomalies is discussed. A case with severe congenital heart disease, unusual Duane's retraction syndrome, classified here as atypical typical, and Klippel-Feil anomaly is described. To alert the physicians to such an association of congenital malformations and for nosological purposes this entity may be called oculo-cervico-cardiac syndrome. Importance of the association of heart and eye abnormalities is stressed and syndromes with associated ocular and cardiac anomalies are briefly discussed.
The effects of excessive intake of vitamin E during gestation and lactation on female rats and their progeny were studied. Pregnant rats receiving large doses of vitamin E (22.5 to 2252 mg/kg per day) had larger livers, higher levels of lipids and vitamin E in plasma, and higher concentrations of vitamin E in the livers than did controls. These deviations from normal were not, however, observed for all levels of supplementation. No obvious teratogenic effects were observed in the newborn young of the vitamin E-supplemented rats. Some eye abnormalities were seen in the older pups of rats given extremely high amounts of the vitamin. The survival rate, weight of the pups, and litter size were unaffected. However, the pups of the mothers who had received 500 mg of vitamin E per day (2252 mg/kg per day) during gestation and lactation had a much higher concentration of vitamin E in their livers and plasma than did controls. This study also confirmed the observation that vitamin E transfer across the placenta is negligible and that mammary transfer of this vitamin is quite efficient.
We report a further case of trisomy 4p: a 5-year-old mentally retarded boy with characteristic facial features, eye abnormalities, flexion contractures, several bone anomalies, and hyperactivity. In a review of 27 cases (11 male, 16 female, 22 families) the cytogenetic and clinical data were tabulated and analyzed. Diagnosis is established by karyotype: there is always partial or apparently "total" trisomy of the short term arm of chromosome 4. In 19 families a parent carried either a balanced translocation (16 times) or a pericentric inversion (3 times); 3 patients had de novo duplication of 4p. In several cases, additional deletions or trisomies were present. From the analysis of all cases, but particularly of the "pure" trisomies, the phenotypic spectrum of this condition was observed and found to be a specific multiple congenital anomaly/mental retardation (MCA/MR) syndrome. Its main features are a characteristic facial appearance, postnatal growth retardation, severe psychomotor retardation with or without seizures, microcephaly, and various major and minor anomalies.
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The high incidence of eye abnormalities among blacks, coupled with the relative unavailability of ophthalmic services, has resulted in excessive rates of blindness otherwise preventable or curable. As a consequence, incidence rates for blindness are higher for the black population than the white population.Statistics show that black children requiring eyeglasses are less likely to receive eyeglasses than similar age-matched white children. In virtually every state surveyed, blacks were more frequently and severely afflicted with eye diseases and were less likely to receive treatment than whites. Yet, no programs exist in any state specifically targeted to promote eye care among blacks and reverse the ever-worsening trend. Additional data characterizing the scope of the problem shall be presented.An initial strategy for approaching the problem, namely, community ophthalmology, has been developed. Community ophthalmology represents a new discipline promoting eye health and blindness prevention through programs utilizing methodologies of public health, community medicine, and ophthalmology. Basically, the use of community ophthalmology strategies is critical to positive out-come, when given a population composed of blacks and other minorities who are chronically underserved with regard to all sectors of health.The evolution and rationale for these concepts are discussed from national, as well as international, perspectives.
We report epidemiologic, clinical, laboratory, and biopsy findings in 14 cases of nephropathia epidemica. The patients were between 19 and 49 years of age. The onset of the disease was characterized by high fever, nausea, headache, backache, abdominal pain, proteinuria, oliguria, hematuria, and uremia. The symptoms subsided rapidly during the polyuria phase, which followed the oliguria stage. Because of renal failure, hemodialysis was required in eight cases. Edema of eyelids, conjunctival injection and hemorrhages, transitory myopia, and acute glaucoma were the most common eye abnormalities. Renal biopsy specimens showed glomerular changes, with mild swelling of the epithelial cells of Bowman's capsule, thickening of the basement membrane of glomerular capillaries, glomerular adhesions, inflammatory cell infiltration, leukocytoclasis and hemorrhages in the interstitium, and eosinophilic hyaline degeneration and vacuolization of the epithelial cells of the proximal tubuli.