This observational study describes optic nerve head pigmentation characteristics in healthy individuals and those with ocular abnormalities, suggesting clinical implications for diagnosis.
Pigmentation of the optic disc (rim and cup) is either primary or secondary.[1] Etiology of primary disc pigmentation is unknown. Secondary disc pigmentation can be seen in optic nerve head melanocytoma, intraocular hemorrhage, and extensive siderosis. Congenital disc pigmentation has been reported in patients with Acardi syndrome and in interstitial deletion of chromosome 17. In 1933, Rheese[2] found histopathologic evidence of normal pigmentation of lamina choroidalis and lamina scleralis. He postulated that pigmentation of the lamina cribrosa occurs due to migration of pigments from its peripheral rim, which is common in patients with darker complexion, and peripapillary inflammation can cause retinal pigment epithelium proliferation, causing hyperpigmentation. Ogawa[3,4] reported primary pigmentation of the lamina cribrosa in normal eyes[4] and sectoral pigmentation in three of 16 women with nevus of Ota.[5] Primary optic nerve head pigmentation is not known to be associated with identifiable systemic or optic nerve abnormality,[6] though early literatures have reported ocular abnormalities such as distended retinal vessels, iris trans illumination defects, ptosis, and nystagmus to be associated with primary disc pigmentation.[3,4] Fig. 1 illustrates primary optic disc pigmentation in eight healthy patients.Figure 1: Shows primary optic disc pigmentation in eight eyes of eight patients. Best corrected visual acuity, color vision, and visual fields were normal in these patientsIn secondary optic disc pigmentation, pigment granules released from hemolysis from intraocular hemorrhage or melanocytoma are deposited between the nerve fiber bundles.[2] It is also seen in congenital optic disc abnormalities, such as a hypoplastic disc. Fig. 2 illustrates secondary optic disc pigmentation in six patients.Figure 2: Shows secondary disc pigmentation in six eyes of six patients. (a) shows a pale disc with pigmentation in the left eye with retinal vascular occlusion. (b) shows a densely pigmented disc with sclerosed vessels in the left eye, with retinal vascular occlusion and earlier operated for tractional retinal detachment. (c) illustrates the left eye optic disc with pigmentation and disc pit superiorly. (d) shows a pale disc with dispersed pigments in the right eye with optic nerve glioma. (e) shows sectoral disc pigmentation inferiorly in a patient with optic nerve head melanoma. (f) shows pale disc with pigmentation in a patient with ischemic optic neuropathy associated with serology positive for perinuclear anti-neutrophil cytoplasmic antibody“Patient’s consent was obtained to use the images for educational purposes.” Authors' contributions Vidhya Dharani: Concepts, Design, Definition of intellectual content, Literature search, Clinical studies, Data acquisition, Data analysis, Manuscript preparation, Manuscript editing, Manuscript review, Guarantor; Ambika S: Concepts, Definition of intellectual content, Clinical studies, Data analysis; Smita Praveen: Concepts, Definition of intellectual content, Clinical studies. 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: Nil. Conflicts of interest: There are no conflicts of interest.
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Dharani et al. (2026) studied this question.
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