Eye Disorders

A 25-year-old man reports difficulty seeing at night since his teens, worsening to "tunnel vision" over the past 5 years; he is now bumping into objects in his peripheral field. Fundoscopy shows the classic triad of **bone-spicule pigmentation in the mid-periphery, attenuated retinal vessels, and a waxy-pale optic disc**. Full-field ERG shows severely reduced rod responses with relatively preserved cone responses, confirming a **rod-cone dystrophy** pattern.

A 14-year-old reports gradually worsening central vision over 2 years; reading and recognizing faces have become difficult. Acuity is 20/80 OU with normal peripheral visual fields. Fundoscopy shows yellow-white **pisciform (fish-shaped) flecks** at the posterior pole and a **"beaten-bronze" macula**. Fluorescein angiography shows the characteristic **dark choroid** sign. Molecular testing identifies biallelic _ABCA4_ pathogenic variants.

A child presents with narrow horizontal palpebral fissures, drooping upper lids requiring chin elevation to see, and a skin fold ascending from the lower lid toward the nasal bridge. Eyelid surgery is planned for amblyopia prevention. Mother had identical features and went into menopause at 28.

A newborn has white hair, very pale skin that doesn't tan, and pink-blue irides. Pediatric ophthalmology finds nystagmus, foveal hypoplasia, and reduced visual acuity (~20/100). Parents are unaffected; the child has no abnormal bleeding or recurrent infections.