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Alagille Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Occurring in up to 95% of ALGS patients but only 15% in the general population, posterior embryotoxon (a prominent Schwalbe ring) is a defect in the anterior chamber of the eye identifiable by slit-lamp examination (Figure 13.2) [16]. Axenfeld−Rieger anomaly (showing an off-center pupil [corectopia] or extra holes in the iris with the appearance of multiple pupils [polycoria], 45%), optic disk drusen (90%), diffuse fundus hypopigmentation (57%), and speckling of the retinal pigment epithelium (33%) are other ocular features associated with ALGS [19].
SKILL Ocular motility
Published in Sam Evans, Patrick Watts, Ophthalmic DOPS and OSATS, 2014
Refractive aberrations may be described by patients as double vision or blur circles, particularly around points of light. These are perceived binocularly but remain when one eye is covered, thus revealing them to be monocular. They are common in patients with cataract; in particular, nuclear and posterior subcapsular types. Comatic aberration is common in patients with corneal ectasia and it may change over time. Other types of aberration may be described as double vision; particularly, the dysphotoptic symptoms caused by lens pits following yttrium aluminium garnet (YAG) capsulotomy. Peripheral iridotomies causing polycoria may result in monocular diplopia or dysphotopsia.
The Developmental Glaucomas
Published in Neil T. Choplin, Carlo E. Traverso, Atlas of Glaucoma, 2014
Carlo E. Traverso, Alessandro Bagnis
Rieger’s anomaly is further along this clinical spectrum and shares many of the findings of Axenfeld’s with a greater degree of anterior iris stromal atrophy. Findings include polycoria, corectopia, and pupillary distortion. Like Axenfeld’s anomaly (and unlike iridocorneal endothelial syndrome), it is bilateral with an autosomal dominant inheritance pattern. Glaucoma is present in roughly 50% of patients with onset in infancy or later. Nonocular anomalies may also be present and include dental (hypo and microdentia), facial (hypotelorism, malar hypoplasia), and systemic findings (short stature, cardiac defects, empty sella, deafness, and mental deficiency) (Figures 13.11, 13.12, and 13.13a and b). The term Rieger’s syndrome is used when nonocular and systemic findings are present.
Binocular Triplopia Due to Decompensated Congenital Superior Oblique Paresis in A Patient with Marfan Syndrome; A Case Report and Review of Literature
Published in Journal of Binocular Vision and Ocular Motility, 2021
Karthikeyan Arcot Sadagopan, Gong Hui, Nishant Radke, Timothy P. H. Lin, Dennis Lam
Triplopia is a rare and less often reported symptom. Triplopia may have a monocular or binocular etiology.2 Many ocular conditions that induce lenticular or corneal irregularities may cause monocular triplopia. Studies using wave front analysis have shown that monocular triplopia in nuclear cataract probably arises from aberrations induced by the cataract and has been reported more often in middle-aged patients with nuclear cataract and high myopia.2 Retinal disorders, abnormal corneal steepening, small pupils, and polycoria may also contribute to polyopia. Monocular diplopia or binocular polyopia may occur with the dragged-fovea diplopia syndrome, secondary to dragging of the fovea in one or both eyes due to retinal disease.3 Polyopia might also have a cerebral etiology.4 Psychogenic causes and toxicity due to nutmeg abuse have been reported.5 Eye movement disorders including skew deviation and INO have been reported to cause triplopia.6 Binocular triplopia due to concomitant strabismus was first reported in 19437 by Burian and also in his subsequent report in 1952.8
Unclassified Axenfeld-Rieger Syndrome: A CASE SERIES and Review of Literature
Published in Seminars in Ophthalmology, 2018
Aparna Rao, Debananda Padhy, Sarada Sarangi, Gopinath Das
One eye each had polycoria with corectopia, while stromal hypoplasia was seen in eight eyes. One patient had subtle circular hypochromic patches (Case 1, Figure 2) with normal collarette and rest of the iris being essentially normal, apart from a prominent Schwalbe’s line (representing Reiger’s anomaly), focal strands at places, and advanced glaucomatous cupping in both eyes. Both eyes of this patient had pigmented deposits on the cornea with no evident inflammation at presentation or follow-up (Table 1). Histopathology of the iris failed to show any abnormality, apart from minimal stromal hypoplasia focally with normal iris in between (Figure 2).
Mutation Survey of Candidate Genes and Genotype–Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld–Rieger Syndrome
Published in Current Eye Research, 2018
Xun Wang, Xing Liu, Liqin Huang, Shaohua Fang, Xiaoyun Jia, Xueshan Xiao, Shiqiang Li, Xiangming Guo
Axenfeld–Rieger syndrome (ARS; OMIM 180500, 601499, 602482) is an autosomal dominant disease with anterior segment dysgenesis. Major ocular abnormalities associated with this disease include iris stromal hypoplasia, iridocorneal adhesion, corectopia, polycoria, and posterior embryotoxon. Systemic anomalies associated with ARS include facial malformation (telecanthus, maxillary hypoplasia, and flattening of the midface), dental abnormalities (microdontia, oligodontia, hypodontia, and adontia), and redundant periumbilical skin.1,2 Other uncommon systemic features include congenital heart disease, hearing loss, and growth retardation.1,3 Its most severe threat to vision is glaucoma secondary to the maldevelopment of aqueous humor drainage structures.2 It is estimated that the incidence of glaucoma in patients with ARS is as high as 50%.1,4 In ARS, glaucoma onset mainly occurs before the patient becomes a teenager. In one study, the median age at glaucoma diagnosis in 53 patients with ARS was 13.5 years old, and its penetrance in 10-year-olds was 29.4%.3 When glaucoma occurs, affected children are unable to describe their illness accurately or in a timely manner. Early onset glaucoma is associated with a high incidence of blindness and greatly affects the quality of life of patients and their families. Early genetic diagnosis can help identify patients with an elevated risk of developing glaucoma and encourage more regular ophthalmic examinations and treatment. Studies that assess the genotype–phenotype relationship in ARS and those that perform earlier mutation surveys of candidate genes can improve the accuracy of prognoses and provide a higher quality of life for these patients.