Bilateral pellucid marginal degeneration with oculocutaneous albinism

A 54-years-old man, a known case of oculocutaneous albinism (OCA) type 1, presented to us with gradual-onset diminution of vision both eyes (OU) for 5 years. The patient had no prior history of ocular trauma. There was no history of any systemic illness, especially collagen vascular disorder. The best-corrected visual acuity (BCVA) was counting fingers 1 m and 2 m, with refraction of −13DS/−2 DC @ 110 and −14 DS in right (OD) and left eye (OS), respectively. Ocular examination revealed bilateral horizontal, jerky pendular nystagmus of moderate amplitude and frequency, with null at straight gaze. Slit-lamp examination revealed bilateral inferior band of corneal steeping with ectasia, hypopigmented iris with transillumination defects and cataractous lens (figure 1A,B). Dilated fundus evaluation revealed hypopigmented fundus with prominent choroidal vessels and blunted foveal reflex OU (figure 1C,D). OU Orbscan (Bausch and Lomb) revealed against the rule astigmatism, inferior corneal steeping (anterior–posterior float), ‘crab-claw’ pattern (keratometric map) and inferior corneal thinning from 6 to 8 o’clock (figure 2A,B). Based on above findings, a diagnosis of OU pellucid marginal degeneration (PMCD) with OCA was made, was advised for cataract extraction along with intraocular lens implantation. His BCVA improved to 20/80 and 20/60 in OD and OS, respectively, and has remained stable at the last follow-up visit.