|Year : 2023 | Volume
| Issue : 2 | Page : 549-550
Iris heterochromia and skin hyperpigmentation in an infant: A rare finding
Damaris Magdalene1, Obaidur Rehman2, Nikita Sah3
1 Department of Paediatric Ophthalmology, Sri Sankaradeva Nethralaya, Guwahati, Assam, India
2 Department of Orbit, Ophthalmic Plastic and Reconstructive Surgery and Facial Aesthetics, Sri Sankaradeva Nethralaya, Guwahati, Assam, India
3 Department of Ophthalmology, Sri Sankaradeva Nethralaya, Guwahati, Assam, India
|Date of Submission||19-Oct-2022|
|Date of Acceptance||22-Nov-2022|
|Date of Web Publication||28-Apr-2023|
Department of Orbit, Ophthalmic Plastic and Reconstructive Surgery and Facial Aesthetics, Sri Sankaradeva Nethralaya, 96 Basistha Road, Beltola, Guwahati, Assam
Source of Support: None, Conflict of Interest: None
Keywords: Heterochromia iris, hyperpigmentation, iridis heterochromia
|How to cite this article:|
Magdalene D, Rehman O, Sah N. Iris heterochromia and skin hyperpigmentation in an infant: A rare finding. Indian J Ophthalmol Case Rep 2023;3:549-50
|How to cite this URL:|
Magdalene D, Rehman O, Sah N. Iris heterochromia and skin hyperpigmentation in an infant: A rare finding. Indian J Ophthalmol Case Rep [serial online] 2023 [cited 2023 Jun 5];3:549-50. Available from: https://www.ijoreports.in/text.asp?2023/3/2/549/374983
A 3-month-old female child presented to the pediatric ophthalmology clinic with her parents anxious about the child having “different colors in both the eyes” since birth [Figure 1]. Prenatal, antenatal, and birth histories were uneventful. There was no history of consanguinity in the family. The child was otherwise healthy according to the parents, and no systemic complaints were reported. On physical examination, diffuse skin hyperpigmentation was observed on the extensor surfaces of the body, including arms, legs, and back [Figure 2]. This was also present since birth, as per her parents. The child followed light with both eyes, having a central, steady, and maintained gaze. The anterior segment in both eyes appeared essentially normal on torchlight examination, except for blue-colored iris in the right eye and brown-colored iris in the left eye. Posterior segment examination by indirect ophthalmoscopy was within normal limits in both eyes. Pediatric consultation showed normal physical examination findings and no systemic abnormalities. A panel of laboratory investigations including liver function test, renal function test, thyroid profile, and urine test for alkaptonuria were normal. Genetic testing was refused by the parents.
|Figure 1: Heterochromia iris showing blue-colored iris in the right eye and brown-colored iris in the left eye|
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|Figure 2: Diffuse hyperpigmentation on the extensor surfaces of the body. (a) Hyperpigmentation on the back of the child; (b) hyperpigmentation on the legs and feet; and (c) hyperpigmentation on the forearms and hands|
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| Discussion|| |
Iris heterochromia may be sectoral or complete, congenital or acquired, an isolated finding or with syndromic associations. Complete congenital iris heterochromia is rare, with an incidence below 1/200,000. Multiple genes are implicated in iris color determination, the most important being OCA2 gene on chromosome 15. Iris heterochromia may be present in association with congenital Horner's syndrome, Waardenburg syndrome, or Parry–Romberg syndrome. The other associated findings in the aforementioned syndromes were absent in our patient. Díez et al. reported complete iris heterochromia with two large hyperpigmented macules on the torso in a 10-year-old girl. However, these findings developed later in life, unlike our patient. We present a rare case of isolated complete congenital iris heterochromia with diffuse skin hyperpigmentation on the extensor surfaces, which, to the best of our knowledge, has not been reported in literature before.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Díez C, Prado S, Llaca J. Segmental pigmentation disorder with congenital heterochromia Iridis. Open J Pediatr 2015;5:213-7.
Rennie IG. Don't it make my blue eyes brown: Heterochromia and other abnormalities of the iris. Eye (Lond) 2012;26:29-50.
[Figure 1], [Figure 2]