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Disorders of Pigmentation
Published in Ayşe Serap Karadağ, Lawrence Charles Parish, Jordan V. Wang, Roxburgh's Common Skin Diseases, 2022
Michael Joseph Lavery, Charles Cathcart, Hasan Aksoy
Differential diagnosis: Piebaldism is a rare autosomal dominant disorder due to mutation in the KIT-proto-oncogene. It is characterized by a white forelock and depigmented patches, which are commonly located on the forehead. The presence of a white forelock, a depigmented patch, sensorineural deafness, and iris heterochromia are consistent with Waardenburg’s syndrome. The differential diagnosis of localized hypopigmentation is summarized in Table 25.2.
The eye
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Heterochromia is frequently an isolated and harmless trait, often autosomal dominant in inheritance. The most important cause of heterochromia to recognise is Waardenburg syndrome (see Chapter 20), in which piebaldness and deafness are major features. Variation in expression of this autosomal dominant disorder is considerable.
Section 3
Published in Padmanabhan Ramnarayan, MCQs in Paediatrics for the MRCPCH, Part 1, 2017
Retinoblastoma is the most important cause of leucocoria (white reflex), not leucorrhoea! This leads to heterochromia iridis (difference in pupillary colours). 30% have bilateral disease and an autosomally dominantly inherited predisposition, 20% of the unilateral disease have genetic predisposition. The gene is localised to the long arm of chromosome 13. Standard therapy for unilateral disease is enucleation, and bilateral disease is radiotherapy/cryotherapy.
Fuchs’ Uveitis in Iranian Patients: A Review of 89 Eyes
Published in Ocular Immunology and Inflammation, 2019
Mohammad Zarei, Sahel Darabeigi, Mohammad Mehrpour, Ramak Roohipoor, Hamed Ghassemi, Nazanin Ebrahimiadib
Demographic and clinical features like gender, age, prevalence of iris nodules, bilateral involvement, glaucoma/ocular hypertension (HTN) and cataract reported in different studies including ours are shown in Table 4 which indicates considerable similarities regardless of geographic/ethnic backgrounds.1,11–16,21–27 The presence of diffuse small white stellate KPs and absence of posterior synechiae are described as classic findings of FU in previous series.19 In our study, 97.8% of patients had Fuchs’ KPs and none of them had posterior synechiae, consistent with previous studies. In contrast to patients from Western European descent, 11–14,16,22 and similar to other populations from Asia and Middle East, 18,21,24–26,28 heterochromia is not a common feature in Iranian patients (17.1%).
Don’t Miss This! Red Flags in the Pediatric Eye Exam: Pupils
Published in Journal of Binocular Vision and Ocular Motility, 2019
Jennifer E. Lambert, Stephen P. Christiansen, Crandall E. Peeler
Horner syndrome may present at birth due to a congenital anomaly in the pathway or due to birth trauma, often from forceps delivery. Congenital cases are often accompanied by heterochromia of the affected eye. Acquired forms of Horner syndrome include injury of the pathway due to surgical intervention in the neck or chest, trauma, neoplasm, or vascular malformation. The most grave condition associated with Horner syndrome in children is neuroblastoma. However, studies from both Mayo Clinic and Boston University found low rates of association with neuroblastoma.3,4 The workup for Horner syndrome varies by institution but typically includes brain, neck, and chest MRI, with urine assays and renal ultrasound.
Iris Juvenile Xanthogranuloma Presenting with Hypopyon
Published in Ocular Immunology and Inflammation, 2022
Mine Esen Baris, Mukaddes Damla Ciftci, Melis Palamar, Suzan Guven Yilmaz
JXG is a rare benign histiocytic proliferation and is regarded as a form of non-Langerhans cell histiocytosis.6 Eye involvement can occur in up to 10% of patients with cutaneous disease, and the iris is the ocular site that is most commonly affected.7 Clinical findings of uveal involvement in JXG may include 1) an asymptomatic localized or diffuse iris tumor, 2) unilateral glaucoma, 3) spontaneous hyphema, 4) a red eye with signs of uveitis, or 5) congenital or acquired heterochromia iridis.4 In a study of 30 patients with JXG involving the eye and ocular adnexa, Samara et al.5 reported that the most common site of involvement was the iris (68%) while the mean age at presentation of iris JXG was 3.3 years. In the current case, the baby was only 45 days old suggesting that even younger children can be affected. Presenting signs in patients with iris JXG were reported as hyphema (38%), iritis (43%), heterochromia (%29), and iris neovascularization (%29).5 In the current case, the presenting sign was hypopyon, which is rare. Even though JXG has been reported to be associated with acute or chronic anterior uveitis, to the best of our knowledge, this is the first case in the literature in which hypopyon was the presenting sign. It is also possible that the observed hypopyon was in reality a resolving hyphema. As we were unable to take a sample, de-hemoglobinized hemorrhage cannot be excluded completely; nonetheless, the clinical presentation and the infant’s medical history, as narrated by the mother, indicated a hypopyon. Hypopyon in an infant requires a careful investigation for a large group of diseases such as retinoblastoma, leukemia and medulloepithelioma, among others. The underlying cause might even be trauma if a penetrating injury occurred.8