A 38 year-old woman’s (III:4 in pedigree diagram) chief complaint is night blindness since her late teenage years. She is otherwise healthy. Over the past 10 years, her vision slowly decreased. On initial examination, best corrected visual acuity is 20/40 in the right eye and 20/30 in the left eye. Slit lamp examination is normal. Fundus examination shows peripheral retinal “bone spicule” deposits, waxy disc pallor, attenuated retinal arterioles and macular degeneration in both eyes. An OCT reveals thinned macular structure with loss of photoreceptor inner and outer segments. She also has extinguished full field and multifocal ERGs and severely constricted visual fields. Her ocular manifestations are compatible with retinitis pigmentosa. Genetic testing confirms she has a pathologic mutation in one copy of her RHO (rhodopsin) gene. Her father (II:3), elder brother (III:3) and elder sister (III:2) are also affected, as shown in this pedigree, and have the same mutation.

Created by:

Dr. Nutsuchar Wangtiraumnuay, Thailand

Alex V. Levin, MD, MHSc, FRCSC
Chief, Pediatric Ophthalmology and Ocular Genetics
Wills Eye Hospital
Philadelphia, USA

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