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Residents Day Case Submission for the American Academy of Optometry Author: Jo Pongsatien, OD Jack C. Montgomery VAMC Resident I. Case History CC/HPI: 23 year old Navajo male reports distance vision is progressively worsening over the past year with poor night vision. Patient is unsure if night vision has progressed but states that it has been that way for a long time. Reports the change is in OU, but feels its worse in OD. Also reports floaters in his vision. Denies injury, infection, allergies, dry eye symptoms, or having any other systemic conditions. Social History: Smoking: Negative Alcohol: Negative Occupation: Cashier at McDonalds Family History: No history of any blindness in the family Medical History: Unremarkable Ocular History (per exam 1 year ago): 1. Large Refractive error 2. Good ocular health II. Pertinent Findings a. Entrance testing: -Entering ccVA’s: OD: 20/50 ph 20/25 OS: 20/50 ph 20/30 -EOM’s: SAFE -Confrontational Fields: mild constriction to finger counting 360 OD, OS -Pupils: PERRL (-) APD b. Manifest Refraction: OD: -0.50 -3.50 x027 20/25+ OS: -0.50 -3.75 x169 20/20c. Anterior Segment: -IOPs: 14/13 -all findings unremarkable except Lens OD: 2+ PSC OS: Clear d. Posterior segment: Vitreous: OD: Grade 2 vitreous cells and floaters OS: trace vitreous cells and floaters Optic disc: Pink healthy rim tissue OU, no pallor C/D: OD: 0.1 OS: 0.1 Retina: Macula OU: Perimacular ERM Periphery OU: Mottled/irregular RPE with washed out grayish color, most evident below inferior arcades. e. Macular OCT: OU: shows perimacular ERM superiorly and inferiorly, good foveal contour, no edema f. HVF 30-2 SITA Fast: OD: shows dense ring scotoma OS: shows dense arcuating superior field loss and significantly reduced nasal and temporal quadrants. OU: general reduced sensitivity in both eyes at all points. Patient does not meet peripheral vision requirements for driving in NM and Arizona. III. Differential Diagnosis Retinits Pigmentosa variant Choroideremia Gyrate atrophy Fundus Albipunctatus Retinitis puncta albescens Stargardt’s Disease Congenital stationary night blindness IV. Diagnosis and Discussion Diagnosis: Retinal degeneration most likely an RP variant Two types of RP variants have been identified in the Navajo population. One shows a gray granular surface of exposed choroidal tissue, due to RPE loss. This is known as the recessive form and blindness is common by age 30. The dominant form will manifest with the classic RP presentation of bone spicules and pigment clumping. Progression to blindness is usually around age 55. However in both forms, fundus findings are apparent within the first decade. Both forms combined is estimated to affect over 1:1878 Navajos. Due to the subtle presentation of symptoms, it is likely that this condition was missed at the previous eye exam. Given his high astigmatism and mildly reduced BCVA, refractive amblyopia is a possible misleading diagnosis. Furthermore, he did not voice symptoms like night blindness and floaters until further questioned late in the exam. V. Treatment and Management Informed patient he is not suited to operate vehicles due to his condition. Recommended vision rehabilitation services in the area, in case his condition progresses Advised patient to ask other family members if they have experienced similar visual symptoms There is insufficient evidence to support nutritional supplements as a method of slowing down RP progression Electrodiagnostics testing would be beneficial in narrowing down the true diagnosis. VI. Conclusion This case is an example of why we must dilate and must evaluate the peripheral retina in seemingly normal young patients. Even if patients were dilated the year before, it is prudent to re-dilate them the following year. References Frederich, R. Eye Diseases in the Navajo Indians. Annals of Ophthalmology. 1982 Heckinglively, John. Retinitis Pigmentosa in the Navajo. Michigan. Metabolic and Pediatric Ophthalmology; 1981. Massof, Robert. How Strong is Evidence That Nutritional Supplement Slows Progression of RP? Baltimore MD. Arch Opthalmology; 2010 Rotenstreich, Ygal. Treatment with 9-cis Beta-Carotene Rich Powder in Patients with Retinitis Pigmentosa. Tel-Hashoner, Israel. JAMA Ophthalmology; 2012