Optical clues to a rare diagnosis spectral domain OCT documented foveal hypoplasia revealing oculocutaneous albinism in a child

Purpose: To report a rare case of masquerade syndrome in which a painful red eye with posterior segment involvement led to the diagnosis of an underlying laryngeal carcinoma.

Background: Oculocutaneous albinism (OCA) is a hereditary disorder characterized by generalized hypopigmentation and characteristic ocular defects, including reduced visual acuity, nystagmus, and foveal hypoplasia. Early recognition is important for visual rehabilitation and genetic counseling, especially in populations with consanguineous marriages.

Case Presentation: A 5?year?old boy presented to the ophthalmology outpatient department with diminution of vision in both eyes for one and a half months and photophobia for three months. Ocular examination revealed bilateral pendular nystagmus and visual acuity of hand movements close to the face in both eyes. The child had generalized hypopigmentation of hair and skin, with multiple reddish pigmented nevi over the body. There was a positive history of consanguinity and an elder sibling with similar hypopigmentation, suggestive of a familial, likely autosomal?recessive, condition. Anterior segment examination was unremarkable except for iris hypopigmentation with marked iris transillumination. Fundus evaluation showed bilateral loss of normal foveal contour, foveal hypoplasia (right eye = 212 μm, left eye = 250 μm) and retinal pigment epithelium (RPE) hypopigmentation. Spectral?domain optical coherence tomography (spectral?domain OCT) confirmed foveal hypoplasia with the absence of a normal foveal pit. Dermatology consultation corroborated the diagnosis of oculocutaneous albinism. The patient was managed with low?vision aids, dark protective sunglasses, vitamin D, supplementation and broad?spectrum sun protection cream.

Conclusion: This case highlights that detailed posterior segment evaluation, supported by spectral?domain OCT evidence of foveal hypoplasia, can provide an important diagnostic clue to OCA in children presenting with reduced vision and nystagmus. Incorporating spectral?domain OCT early in the work?up, along with timely initiation of visual rehabilitation and photoprotection measures, may improve functional outcomes and support informed genetic counseling in suspected OCA.