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The eye
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
These are heterogeneous and at times syndromal (e.g. Rieger syndrome with mutation in PITX2, or other loci, and Peters plus syndrome with mutation in B3GALTL). They are rare and require expert diagnosis, as well as checking of the parents for minor defects. Molecular abnormalities have been found in some cases, though less consistently than in aniridia.
Ophthalmology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Ocular associations include glaucoma, cataract, Axenfeld–Rieger syndrome, aniridia, microphthalmia, persistent hyperplastic primary vitreous (PHPV) and retinal dysplasia. Systemic abnormalities include craniofacial anomalies, central nervous system abnormalities, fetal alcohol syndrome, chromosomal abnormalities andPeters plus syndrome (a rare autosomal recessive disorder comprising short-limbed dwarfism, cleft lip and/or palate, brachydactyly and learning difficulties).
Congenital stationary night blindness in a patient with mild learning disability due to a compound heterozygous microdeletion of 15q13 and a missense mutation in TRPM1
Published in Ophthalmic Genetics, 2021
M. Delle Fave, M. Cordonnier, l. Vallee, C. Condroyer, C. Zeitz, I. Balikova
Compound heterozygote for a chromosomal microdeletion and a mutation as a cause of a recessive ocular disease were previously described in a patient with Peters Plus syndrome (15). While current testing for retinal dystrophies is often not sensitive for heterozygous deletions and duplications, their importance becomes clear from different reports. Huang XF and coauthors detected four copy number variants in 50 previously negative for genetic testing patients with retinal dystrophies (20). Bujakowska et al. increased diagnostic yield with 18% by testing for deletions and duplications (21). In order to identify loci with higher risk for copy number changes, Van Schill K. performed analysis of 256 genes underlying retinal disorders for genomic features leading to more frequent deletions and duplications (22). All these reports focus on the identification of intragenic deletions and duplications. Here, we show an unusual finding of a larger deletion combined with a recessive mutation. The phenotype of the patient is a combination of the clinical features associated with both genetic defects. With this report, we would like to raise attention to this type of complex genetic defects with atypical phenotypes. Inversions or smaller duplications disrupting retinal dystrophy genes will be similarly difficult to detect while leading clinically to less severe systemic phenotype. Application of bio-informatic algorithms allowing better interpretation of WES and WGS data for detecting small or larger structural variants in patients with retinal dystrophies will help to improve the diagnosis in these patients.
Lacrimal drainage system involvement in Peters anomaly: clinical features and outcomes
Published in Orbit, 2021
Nandini Bothra, Abhimanyu Sharma, Mohammad Javed Ali
A total of 12 lacrimal drainage systems of 12 eyes of 7 patients of Peters anomaly were found to be involved (Table 1). The mean age at presentation was 12.64 months (range: 0.5 months–24 months) and male to female ratio was 4:3. Of the 7 patients, two patients had Peters anomaly type 1, two had Type 2, and three had Peters plus syndrome. Five patients had bilateral involvement of their lacrimal drainage apparatus. The complaints of epiphora and visibly high tear meniscus height with discharge and matted lashes were the reasons for the Dacryology service referral.
Peters Anomaly: Novel Non-Invasive Alternatives to Penetrating Keratoplasty
Published in Seminars in Ophthalmology, 2023
Raksheeth Nathan Rajagopal, Merle Fernandes
PA has a broad range of phenotypes – from a barely discernible nebular corneal haze (Figure 1A) to a complete central corneal leucoma, synechial iris strands that extend from the iris collarette region to the posterior border of the leucoma (Figure 1B), and central lenticulo-corneal adhesions with consequent shallow anterior chamber.2,23 Cases with iridocorneal adhesions without lens involvement were termed Type 1 PA, and those with lenticulo-corneal contact were classified as Type 2 PA by Townsend et al.,24 nearly half a century ago. Ocular anomalies associated with PA include microphthalmos, microcornea, posterior embryotoxon, Rieger anomaly, iris and retino-choroidal coloboma, aniridia, persistent fetal vasculature, optic nerve hypoplasia, and foveal hypoplasia.1,23–26 Glaucoma is a prominent association, due to associated goniodysgenesis, and is seen in over 50% of cases.2 Bilaterality is observed in up to 80% of PA patients.25 The systemic abnormalities associated with PA are numerous and varied. Trauboulsi et al.26 observed in cases of PA the propensity for the involvement of midline structures in the body. Thus, central nervous system defects that result in developmental delay, pituitary dysfunction with consequent short stature, cleft lip/palate and other craniofacial abnormalities, congenital heart defects, spina bifida, urogenital abnormalities, and anal atresia are among the developmental anomalies characterizing the so-called Peters’-plus syndrome.23,26,27 The range of vital organ system involvement in these cases of PA is a pertinent reminder of the need for multi-disciplinary care in these patients. Some authors26,28 have observed significantly higher incidences of systemic involvement with bilateral cases, type 2 PA, and in cases of PA with associated ocular anomalies. These patients, may therefore be viewed with greater suspicion, and require referral to the pediatrician for thorough systemic screening.