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Radiation Injuries to Human Fetuses
Published in Kedar N. Prasad, Handbook of RADIOBIOLOGY, 2020
Among eye defects, anophthalmia and microphthalmia are common gross responses in rodents exposed to 100–300 Rat a particular stage during fetal life. Although the developing retina is sensitive to radiation, it exhibits a remarkable capacity to reconstitute and repair the damaged area. Even after reconstitution of the retina, there is evidence of persistent damage in the form of microphthalmia. There is a progressive fall in radiosensitivity during the first week after birth as retinal cells become differentiated. A dose of 15 rads to the rat fetus produces brain and eye abnormalities.44 The exposure of the fetus to doses of less than 5 rads may produce eye defects in the F2 generation.45 In another study, the incidence of anophthalmia in live mouse embryos irradiated at 8 days of gestation with neutrons increased and then declined. In contrast, X-ray-induced anophthalmia showed only an increase with dose (Figure 15.5).75 The decline in incidence of anophthalmia in neutron-irradiated embryos was due to increased mortality in utero.
Guide to Good Clinical Practice for Vulnerable Populations (Infancy, Childhood, Fertile Period, Elderly)
Published in Ayse Serap Karadag, Berna Aksoy, Lawrence Charles Parish, Retinoids in Dermatology, 2019
Adapalene (Category C) has been poorly studied. The drug has negligible percutaneous systemic absorption, and it remains unknown whether it crosses the placenta. There is a case report of maternal exposure to adapalene in early pregnancy with fetal anophthalmia and agenesis of the optic chiasma (39). A study including 24 pregnant patients exposed to adapalene in the first trimester did not find any fetal risks from adapalene (32).
Efavirenz
Published in M. Lindsay Grayson, Sara E. Cosgrove, Suzanne M. Crowe, M. Lindsay Grayson, William Hope, James S. McCarthy, John Mills, Johan W. Mouton, David L. Paterson, Kucers’ The Use of Antibiotics, 2017
Alan C. Street, Irani Thevarajan
Initial concerns about teratogenicity were based on animal studies and human case reports. In a study of pregnant cynomolgus monkeys treated with efavirenz at a dose that produces plasma drug levels similar to those in humans given efavirenz 600 mg once daily, malformations were observed in 3 of 20 fetuses/infants from efavirenz-treated monkeys compared with none of 20 concomitant controls. The abnormalities observed were anencephaly and unilateral anophthalmia in one fetus, microphthalmia in another fetus, and cleft palate in the third fetus (Bristol-Myers Squibb, 2015). There are five case reports of neural tube defects and one case report of another central nervous system defect (Dandy-Walker syndrome) in infants from pregnant women who took efavirenz during pregnancy, all of whom were exposed in the first trimester. Of the four neural tube defects for which information is available, myelomeningocele was observed in two infants (De Santis et al., 2002; Fundaro et al., 2002; Saitoh et al., 2005), anophthalmia with severe oblique facial clefts and amniotic banding in one infant (Shanske, 2012), and encephalocele in one infant (Gudu and Bekele, 2013).
Maternal transmission of RBP4 congenital eye disease: can Vitamin A help?
Published in Ophthalmic Genetics, 2023
Anupriya Kaur, Roshan Daniel, Snigdha Kumari
The family was referred for genetic counselling at 20 weeks of pregnancy when bilateral fetal anophthalmia was observed on anomaly scan. There was a history of previous pregnancy also showing the same fetal malformation. The couple decided to terminate the pregnancy but were very keen to know the cause of recurrent eye malformation. Fetal autopsy showed isolated bilateral anophthalmia. Fetal exome sequencing showed a heterozygous variation c.217 G>A:p.Ala73Thr in the RBP4 (NM_006744.4). Parental targeted sequencing showed mother to be heterozygous for this variation. Parental targeted sequencing showed mother to be heterozygous for this variation (Figure 1). The mother however had no visual complaints nor her detailed ophthalmological examination showed any abnormality.
Incomplete penetrance of autosomal recessive anophthalmia in a large consanguineous family
Published in Ophthalmic Genetics, 2021
Masoud Dehghan Tezerjani, Behdokht Fathi Dizaji, Zahra Metanat, Mohammad Yahya Vahidi Mehrjardi
Anophthalmia or microphthalmia (A/M) disorders exhibit high genetic and clinical complexity, and the mutations in the genes have mainly shown full penetrance (1). The observed reduced penetrance of the ALDH1A3 gene (p.Gly237Arg) mutation might happen due to several reasons. One possible explanation might be a sufficient intake of vitamin A by the non-penetrance subject. As in mouse aldh1a mutants, eye defects were rescued by maternal dietary retinoic acid supplementation (8). Another study indicated that disruptive delivery of vitamin A from maternal tissue to the placenta and the fetus because maternal transmission of RBP4 missense mutation enhanced the phenotypic expression of congenital eye anomalies in a fetus (9). In our studies (current and previous studies), anophthalmia patients were all males of different ages, and a female with homozygous pathogenic variant was unaffected. Similarly, just one study reported the reduced penetrance of biallelic ALDH1A3 in anophthalmia. In their study, the proband was an asymptomatic 10-year-old girl carrying a homozygous pathogenic variant of ALDH1A3, while her brothers were affected. However, they observed the affected females in their study (7). This may highlight the need for more investigations of the effect of gender on the ALDH1A3 mutations.
Custom ocular prosthesis-related concerns: patient feedback survey-based report vis-à-vis objective clinical grading scales
Published in Orbit, 2021
Tarjani Vivek Dave, Arpita Nayak, Mansha Palo, Yashwanth Goud, Dharani Tripuraneni, Sachin Gupta
Anophthalmia, whether congenital or acquired is associated with several psychosocial issues such as difficulties with social interaction, negative self-esteem and appearance-related concerns.,1,2 Besides the psychosocial issues, anophthalmic patients also have concerns related to the general well-being, issues related to the use and maintenance of the prosthesis, and concerns related to monocular status such as depth perception and reduced visual field.3–5 All these factors can potentially affect the patients’ quality of life in many ways.6–9 Rasmussen et al.10 identified that the most frequent complications faced by prosthetic eye wearers were lagophthalmos, mucoid secretions from the eye, reduced motility of the prosthesis, and enophthalmos. Song et al.11 surveyed 78 anophthalmic patients and found an overall satisfaction rate of 71.8% with the ocular prosthesis. Nicodemo and Ferreira12 used a questionnaire to gauge the psychosocial profile of patients with anophthalmia. Keith Pine et al.4,5 studied the concerns of anophthalmic patients wearing prosthetic eyes and found the highest concerns were related to the health of the fellow eye, reduced side vision, retention of the artificial eye, watering and crusting.