Talk:Sensory - Vision Abnormalities: Difference between revisions
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Cite this page: Hill, M.A. (2024, April 18) Embryology Sensory - Vision Abnormalities. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Talk:Sensory_-_Vision_Abnormalities |
2011
Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations
BMC Med Genet. 2011 Dec 28;12:172.
Jimenez NL, Flannick J, Yahyavi M, Li J, Bardakjian T, Tonkin L, Schneider A, Sherr EH, Slavotinek AM. Source Department of Pediatrics, Division of Genetics, University of California, San Francisco, 533 Parnassus St, Room U585P, San Francisco, CA 94143-0748 USA. Abstract BACKGROUND: Anophthalmia/microphthalmia (A/M) is caused by mutations in several different transcription factors, but mutations in each causative gene are relatively rare, emphasizing the need for a testing approach that screens multiple genes simultaneously. We used next-generation sequencing to screen 15 A/M patients for mutations in 9 pathogenic genes to evaluate this technology for screening in A/M. METHODS: We used a pooled sequencing design, together with custom single nucleotide polymorphism (SNP) calling software. We verified predicted sequence alterations using Sanger sequencing. RESULTS: We verified three mutations - c.542delC in SOX2, resulting in p.Pro181Argfs*22, p.Glu105X in OTX2 and p.Cys240X in FOXE3. We found several novel sequence alterations and SNPs that were likely to be non-pathogenic - p.Glu42Lys in CRYBA4, p.Val201Met in FOXE3 and p.Asp291Asn in VSX2. Our analysis methodology gave one false positive result comprising a mutation in PAX6 (c.1268A > T, predicting p.X423LeuextX*15) that was not verified by Sanger sequencing. We also failed to detect one 20 base pair (bp) deletion and one 3 bp duplication in SOX2. CONCLUSIONS: Our results demonstrated the power of next-generation sequencing with pooled sample groups for the rapid screening of candidate genes for A/M as we were correctly able to identify disease-causing mutations. However, next-generation sequencing was less useful for small, intragenic deletions and duplications. We did not find mutations in 10/15 patients and conclude that there is a need for further gene discovery in A/M.
PMID 22204637
2004
The effect of prematurity on tear production
Curr Eye Res. 2004 Feb;28(2):145-51.
Akar Y, Cira A, Apaydin C, Erman MA, Yilmaz A. Source Department of Ophthalmology, Akdeniz University School of Medicine, Antalya, Turkey. dryakar@yahoo.com Abstract PURPOSE: To evaluate the effect of the birth weight and the postconceptional age on the tear production of preterm and term newborn infants and to evaluate the changes in tear production during the first two months of life. SUBJECTS--METHODS: Both eyes of medically stable term and preterm infants were included in the study. Based on postconceptional age and birth weight, we divided preterm infants into three groups. Then, we measured the basal and reflex tear secretions of both eyes by Schirmer tests before and after instillation of topical anesthetic agent. We performed initial tear measurements on the second day of life (between first 24 hours to first 48 hours after birth): and at 2 weeks, 4 weeks and 8 weeks after birth.
RESULTS: We tested a total of 138 infants (63 preterm and 75 term), 72 males and 66 females. Schirmer-1-test of preterm and terms on the 2nd day of life revealed a mean basal tear secretion (BTS) of 4.8 +/- 4.1 and 8.8 +/- 3.2 mm, respectively (p < 0.0001). The mean reflex tear secretion (RTS) within 48 hours of life was 6.1 +/- 3.9 mm and 10.3 +/- 4.4 mm in preterm and term infants, respectively (p < 0.0001). The mean values of both basal and reflex tear secretion were significantly lower in the preterm than the term infants during the first two months of the life. In preterm infants, both basal and reflex tear secretions were found to be highly correlated with postconceptional age (r: 0.79 and 0.74, respectively, both p values: 0.001); however, there was a weak correlation with birth weight (r: 0.16 and 0.19, respectively, both p values: 0.01). Statistically significant differences for both BTS and RTS existed among the three postconceptional age groups: there were no such difference among the three different birth weight groups. We found no gender or laterality dependent (side of the eyes) differences in the tear production (both p values >0.05).
CONCLUSIONS: Preterm infants have significantly reduced tear secretion compared with term infants. Postconceptional age, rather than birth weight, seems to be more correlated with the tear secretion. Sex and laterality does not appear to have an effect on tear production in infants. Tear production of preterm infants is significantly reduced than that of term infants during the first two months of life. Term infants increased their tear production significantly in each examination during the neonatal period while the preterms increase tear production significantly only at mean postconceptional age of eight and a half (8.5) months.
PMID: 14972720 http://www.ncbi.nlm.nih.gov/pubmed/14972720
