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A man in his 40s was evaluated for occasional floaters in both eyes (OU). He had no history of blurred vision, redness or ocular pain. The best corrected visual acuity (OU) was 6/6, N6. Intraocular pressure in the right eye (OD) was 14 mm Hg and left eye (OS) was 16 mm Hg. Anterior segment examination (OU) was normal. Fundus examination (OU) revealed no cells in the vitreous and a normal retina. An ill-defined area of choroidal hypopigmentation with normal overlying retinal pigment epithelium was seen in the posterior pole of OU (figure 1A). In addition, the OS had a small retinochoroidal coloboma inferior to the disc (figure 1B). Optical coherence tomography scan through the macula was normal, and B scan ultrasonography ruled out choroidal mass lesions and calcification.
Since the patient did not have a headache, tinnitus, or blurred vision suggestive of Vogt–Koyanagi–Harada syndrome or depigmented lesions elsewhere in the body suggestive of cutaneous vitiligo, a diagnosis of primary choroidal vitiligo (CV) OU with OS retinochoroidal coloboma (Ida Mann’s type-3 coloboma)1 was made. No peripheral treatable lesions were noted in the fundus, and floaters were noted secondary to vitreous liquefaction. The patient was reassured about the benign nature of floaters.
Primary CV is a rare, benign depigmentary disorder of the choroid which is non-progressive and asymptomatic in nature.2 Secondary CV occurs following Vogt–Koyanagi–Harada syndrome and may also be associated with cutaneous/periocular vitiligo.3 Vitiligo is a condition characterised by the autoimmune destruction of melanocytes in genetically predisposed individuals. Embryonically, melanocytes are derived from neural crest cells (NCCs).4
Incomplete closure of choroidal fissure causes varying degrees of retinochoroidal coloboma.5 Ocular coloboma can be seen in isolation or as a part of multisystem syndromes. Its coexistence with CV has not been documented, and its association with any form of vitiligo is not known except for a single anecdotal report.6 In these syndromes, the eye phenotype is observed with craniofacial abnormalities, implicating that NCCs may play a role in the pathophysiology of colobomas.7 In the current case, the occurrence of two anomalies of different embryological origin in the same eye could be due to chance.
Primary choroidal vitiligo (CV) is rare and may be associated with other congenital ocular anomalies.
Secondary aetiologies should be ruled out, which can cause focal or diffuse depigmentation of the choroid.
The occurrence of retinochoroidal coloboma along with CV is very rare and its association is unknown.
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Contributors RH investigated and managed the case. CKN designed the concept and literature search and manuscript review. AM did manuscript writing.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.