Layers of Rarity: An Unusual Concurrence of Keratoconus, Salzmann’s Nodular Degeneration, Ptosis, and Congenital Retinal Macrovessel

We report a highly unusual case involving the coexistence of four rare ophthalmic conditions (keratoconus, Salzmann nodular degeneration (SND), congenital ptosis, and congenital retinal macrovessel) in a single patient. A young woman in her late adolescence presented with bilateral progressive vision loss and a history of left upper eyelid drooping since childhood. She was recently diagnosed as being in the early stages of pregnancy. Ocular examination revealed signs consistent with keratoconus, including corneal thinning, conical protrusion, and a scissoring reflex on retinoscopy. Two subepithelial, bluish-gray nodules characteristic of SND were found in the right eye. The patient also demonstrated left-sided congenital ptosis with good levator function and Bell's phenomenon. Fundus evaluation revealed bilateral optic disc hypoplasia and a congenital retinal macrovessel traversing the fovea in the right eye without associated hemorrhage or cysts. This case highlights the importance of comprehensive ophthalmologic evaluation when encountering atypical presentations. The association between keratoconus and other systemic or ocular disorders has been well-documented; however, simultaneous manifestation with Salzmann nodular degeneration, congenital ptosis, and congenital retinal macrovessel expands the spectrum of possible syndromic presentations.