Diagnostic and Therapeutic Challenges

Abstract

A 79-year-old man was referred to our clinic with a diagnosis of retinitis pigmentosa (RP) and a 50-year history of decreased vision. He noticed vision impairment in both eyes at ;30 years of age. In his mid-40s, he lost central vision bilaterally. Five years ago, the right eye became amaurotic and in the left eye only the temporal field of vision remained. In his ocular history, the only relevant event was a lacrimal drainage system intervention. His medical history showed arterial hypertension and cardiac arrhythmia on treatment. Family history of eye disease was positive, having a sister with bilateral low vision, but the diagnosis and ophthalmic treatment were unknown by the patient.Examination showed visual acuity of no light perception in the right eye and hand movement perception in the temporal field of the left eye. Intraocular pressures were 38 mmHg in the right eye and 14 mmHg in the left eye. Central corneal ultrasonic pachymetry was 453 and 450 mm in his right and left eyes, respectively. External examination was unremarkable. At slit-lamp examination, he presented with bilateral iris stromal atrophy, mainly in the inferior quadrants with remaining tissue strands at the sphincter pupillae and iris periphery. There was superotemporal corectopia and nuclear cataracts in both eyes (Figures 1 and 2). Gonioscopy showed angle closure in the right eye (Shaffer grade 0) and occludable angles in the left eye (Shaffer grades 2-3). Fundus examination showed severe panretinal and choriocapillaris atrophy, vascular attenuation, and some peripheral subretinal pigmented deposits with exposition of scleral tissue in both eyes (Figure 3), also demonstrated on optical coherence tomography image. Small optic disks were noted with a cup-to-disk ratio of 1.0 in the right eye and 0.6 in the left eye. Optical coherence tomography of the anterior segment of the eye showed marked atrophy of the iris stroma ( Figure 4).