Pigment Pathways Collide: A Rare Case of Retinitis Pigmentosa and Nevus of Ota

Nevus of Ota (ocular melanosis) is a dermal melanocytosis involving the ophthalmic and maxillary regions and can present with ocular involvement as melanosis oculi. Retinitis pigmentosa (RP) is a hereditary retinal dystrophy characterized by progressive photoreceptor degeneration. We report the first documented rare case of a 59-year-old female patient with a history of treated breast carcinoma who presented for an eye evaluation due to vision loss. Ocular examination revealed bilateral RP and unilateral ocular melanosis (Nevus of Ota). No established syndromic or genetic links between Nevus of Ota and RP exist. While pigmentation disorders such as albinism or syndromes like Waardenburg syndrome may involve both melanin pathways and retinal degeneration, Nevus of Ota has not been associated with retinal dystrophies in the literature. This case explores whether this co-occurrence may suggest a rare, undocumented syndromic association or is merely coincidental.

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Publication Details

Journal
Cureus
Published
2025-08-18
DOI
https://doi.org/10.7759/cureus.90369
Primary Topic
Retinal Development and Disorders
Type
article
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article

Pigment Pathways Collide: A Rare Case of Retinitis Pigmentosa and Nevus of Ota

Divyashri Ramanathan Nagarajan, Sathya J Kakade
Cureus
Retinal Development and Disorders
article

Pigment Pathways Collide: A Rare Case of Retinitis Pigmentosa and Nevus of Ota

Divyashri Ramanathan Nagarajan, Sathya J Kakade
article en

Abstract

Nevus of Ota (ocular melanosis) is a dermal melanocytosis involving the ophthalmic and maxillary regions and can present with ocular involvement as melanosis oculi. Retinitis pigmentosa (RP) is a hereditary retinal dystrophy characterized by progressive photoreceptor degeneration. We report the first documented rare case of a 59-year-old female patient with a history of treated breast carcinoma who presented for an eye evaluation due to vision loss. Ocular examination revealed bilateral RP and unilateral ocular melanosis (Nevus of Ota). No established syndromic or genetic links between Nevus of Ota and RP exist. While pigmentation disorders such as albinism or syndromes like Waardenburg syndrome may involve both melanin pathways and retinal degeneration, Nevus of Ota has not been associated with retinal dystrophies in the literature. This case explores whether this co-occurrence may suggest a rare, undocumented syndromic association or is merely coincidental.

CureusVol. 17(8)
Shaikh Khalifa Medical City (AE)
Zero hunger
Openalex Percentile: Top 81%
Retinal Development and Disorders
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