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I. Case History a. Pt demographics: 72 year old Caucasian female b. Chief complaint: This pt presented on 8/24/15 for her yearly comprehensive examination complaining of increased difficulty reading with correction OU. The pt stated distance vision was reduced, but stable to previous exams. She stated that her vision is slightly better at night compared to during the daytime. She also complained of longstanding photophobia and difficulty distinguishing colors. c. Ocular, medical history: i. Diagnosed with Rod Cone Dystrophy in 2005 by another provider. 1. Pt has had difficulty with color vision, photophobia, and visual acuity for approximately 40-50 years. 2. Testing done by previous provider: Color vision and electroretinography testing with abnormal results. IVFA was also performed. ii. Cataract extraction without complications OU in 2014. iii. Last comprehensive eye examination: 7/30/14 1. Rod Cone Dystrophy with best corrected visual acuities of 20/400 OD, 20/80 OS. The condition was stable to the previous examination. iv. Last low vision exam: 8/28/14 1. Pt has received multiple hand-held and stand magnifiers, solar shields and color identifier in the past. v. Family ocular history: 1. Blindness - father, 6th decade, unknown etiology 2. Glaucoma - mother and brother vi. Medical: Hyperlipidemia, coronary artery disease, hypothyroidism, bladder cancer, depression, insomnia, mood disorder, GERD d. Medications: i. Systemic: Albuterol, levothyroxine, nicotine chewing gum, nitrofurantoin, omeprazole, oxybutynin chloride, sertraline, simvastatin, ziprasidone HCL ii. Ocular: artificial tears PRN OU, lubricating ointment QHS OU II. Pertinent Findings a. Clinical i. Visual acuity cc: 20/400 OD, 20/80- OS 1. Pinhole: No Improvement OD, 20/80+ OS ii. EOMs: Full (-)pain (-)diplopia OU iii. CVF: Full to finger count OD/OS iv. Pupils: PERRLA (-)APD OU v. Refraction: 1. Subjective Distance: a. OD: plano-0.25x065 20/400 b. OS: -0.75-0.75x090 20/802. Subjective Near: (pt accepted trial frame) a. OD: +8.00-0.25x065 20/400 @ 10cm b. OS: +7.25-0.75x090 20/40- @ 10 cm vi. Anterior segment: Unremarkable vii. Goldmann intraocular pressure: 16/16 @ 0956 viii. Dilated fundus examination: 1. Lens: PCIOL centered and clear OU 2. ONH: 0.25 C/D with temporal pallor OU 3. Macula: pigment mottling with mild RPE atrophy OU 4. Post Pole: scattered small and medium hard drusen, few pigment clumps OU 5. Periphery: fleck-like pigment clumping 360 OU ix. Macular Cube OCT: Decreased foveal thickness and exaggerated contour due to rod cone dystrophy, but stable to previous macular OCT OU. 1. Central thickness: 143 OD, 154 OS x. Fundus Photos taken OU III. Differential Diagnosis a. Primary/leading i. Rod Cone Dystrophy b. Others: i. Stargardt Disease 1. This is typically an autosomal recessive condition characterized by progressive decline of central vision with variable macular signs. 2. Signs: There are many variations to the appearance of the fundus in this condition. A normal macular appearance early in the disease process may be observed. Development of macular signs later on include pigment mottling, beaten bronze appearance, geographic atrophy which may appear in a bulls-eye pattern, or bilateral yellow-white lesions at the RPE level. a. The most typical finding is pisciform pigment flecks scattered throughout the posterior pole or extending into the mid-periphery. b. Vessels are usually not attenuated. Temporal optic nerve pallor can occur in more advanced cases. 3. Symptoms: Onset of progressive decrease in central vision in the first or second decade. Photophobia is rare, though glare may be bothersome for some pts. A mild red/green color deficiency may be observed early on in the disease process which progresses in severity later on. A blue/yellow defect may be apparent later on as well. Central scotomas may be present. Peripheral vision is not affected (Kanski, 2011). 4. Testing: Multifocal ERG showed significantly abnormal macular findings in over 95% of pts, even when no macular signs were visible and visual acuity was still relatively good. However, peripheral ERG findings were normal. EOG may be normal or subnormal in advanced cases. While electrodiagnostic testing may not help differentiate Stargarts Disease from other macular dystrophies, fluorescein angiography is crucial in diagnosis. Fluorescein angiography will show an absence of choroidal fluorescence due to blockage by accumulation of lipids in the RPE cells. This is known as “dark or silent choroid”. Hyperfluorescence may be observed in areas of foveal atrophy (Alexander, 2002). 5. Summary: The pt presented did not have a beaten bronze fundus appearance, geographic atrophy, or yellow white lesions typical of this disease. Previous IVFA testing from another provider did not show “dark” or “silent” choroid. ii. Central Areolar Choroidal Dystrophy 1. This condition is reported most often as sporadic, but autosomal dominant and autosomal recessive variations are possible. Pt’s with this condition present with progressive decrease in central vision from the fourth to fifth decade. 2. Signs: Early in the disease process, symmetric bilateral RPE mottling within the macula can be observed. This progresses to sharply outlined RPE and choriocapillaris atrophy. The area of atrophy can enlarge, but usually remains confined to the fovea and surrounding macula. This area can appear excavated on fundoscopy. Optic disc atrophy, vessel attenuation, and rare pigment clumping may also be observed. 3. Symptoms: Pt’s will have progressive decline in visual acuity to 20/200 or worse. Central scotomas may also be present. Pt’s may have reduced sensitivity to red light (pseudo-protanomaly) early on. This color defect will progress to full red/green or blue/yellow defects with time. Pt’s will not experience photophobia, night blindness, or peripheral visual field loss. Progressive hearing loss is also associated with this condition. 4. Testing: Fluorescein Angiography may show hyperfluorescence of atrophic areas early in the disease with eventual loss of choriocapillaris flow without leakage. ERG and EOG will be normal, though pattern ERG and VEP will be abnormal even early on in the disease process (Alexander, 2002). 5. Summary: The pt presented had already advanced past the early stages of her ocular disease and did not show the obvious RPE and choriocapillaris atrophy typical of this condition. She also is photophobic. iii. Benign Concentric Annular Macular Dystrophy 1. This is a rare autosomal dominant condition which presents with an adult onset of mildly decreased central vision. 2. Signs include: Bulls-eye maculopathy, vessel attenuation, and paracentral ring scotoma on visual field testing. There is no optic nerve atrophy in this condition. 3. Symptoms: Mildly reduced visual acuity is typical. In rare cases this may progress to more significantly reduced acuity, nyctalopia and blue/yellow color vision defects with pseudoprotanomaly. Pt’s will not be photophobic. 4. Testing: ERG testing reveals photoreceptor dysfunction with slight predominance of rod dysfunction. EOG is subnormal early in the disease with progressive decline later on (Hamel, 2007). 5. Summary: The pt presented had more severe decrease in vision than is typically found with this condition. Optic atrophy OU was also observed which is not present in pts with this condition. iv. Rod monochromatism 1. This is an autosomal recessive disorder which causes reduction in visual acuity and color vision defects. 2. Signs: The macula usually appears normal, but can have mild pigment mottling. Pt’s may present with congenital nystagmus or paradoxic pupil constriction. 3. Symptoms: Decrease in visual acuity to 20/200 with significant photophobia. Pts will have totally absent color vision, with all colors appearing as shades of grey. 4. Testing: Photopic ERG is significantly decreased while scotopic ERG will be normal to only mildly abnormal. Fluorescein angiography is normal (Kanski, 2011). 5. Summary: The pt presented did not have complete color vision loss, nystagmus, or paradoxic pupil constriction. v. Retinitis Pigmentosa 1. This pt presented with pigment flecks similar to the bone spicules found in retinitis pigmentosa and with vessel attenuation. However, retinitis pigmentosa typically affects peripheral vision more so than central vision and would not affect color vision. vi. Chloroquine/Hydroxychloroquine Retinopathy 1. This condition presents with bulls-eye maculopathy similar to that found in Rod Cone Dystrophies. However, this pt had never taken any chloroquine or hydroxychloroquine. vii. Age Related Macular Degeneration 1. This pt presented with macular pigment mottling and scattered hard drusen characteristic of ARMD, but her visual loss had started much earlier in life at approximately 20-30 years of age which is not typical of ARMD. The reduction in visual acuity of 20/400 OD with minimal macular findings and no CNVM is also uncharacteristic of ARMD. IV. Diagnosis and Discussion a. Elaborate on the condition i. Rod Cone Dystrophies are hereditary conditions with progressive central vision loss. Prevalence is 1 in 40,000 (Hamel, 2007). There are different variations including autosomal dominant, autosomal recessive, X-linked recessive or sporadic forms. 1. Symptoms: Pts will present with normal vision until the second to fourth decade, and then vision will progressively decrease bilaterally to a 20/400 level or worse. Vision will be slightly improved in scotopic environments. Pts may complain of significant photophobia and difficulty distinguishing between colors (Gerstenblith, 2012). 2. Signs: Micronystagmus, temporal disc pallor, vessel attenuation, pigment clumping, or tapetal sheen temporal to the macula may be observed. Fleck-like pigment clumping may occur in the peripheral fundus which resembles bone spicules found in Retinitis Pigmentosa. a. Pts may show no macular or fundus abnormalities on first presentation or they may show one of the three main types of retinal lesions below (Alexander, 2002): i. The Bulls Eye Lesion: This is the most common type of lesion in Rod Cone Dystrophies and resembles the macular appearance found with Hydroxychloroquine/Chloroquine Retinopathy. A central dark zone at the fovea with surrounding RPE atrophy is observed. ii. Patchy Central RPE Defects: This variant presents as diffuse pigment mottling in the posterior pole with pigment clumping. iii. Localized central RPE and Choriocapillaris Atrophy: Eventual progression to geographic atrophy is possible. This type of presentation is associated with more significantly reduced visual acuity and early onset. 3. Testing: ERG may show subnormal or non-recordable photopic responses with reduced flicker fusion frequency though rod responses are preserved until late in the disease process. EOG is normal to subnormal. Color vision testing may show severe deuteron-tritan defects. Fluorescein angiography in the bulls-eye lesion variant will show a central hypofluorescent area with surrounding hyperfluorescent window defect (Emiko, 2014). b. Expound on unique features i. Rod Cone Dystrophies can be difficult to diagnose due to either minimal fundus signs or similarities in presentation to the differential diagnoses discussed above. This pt wasn’t diagnosed until she was 62 years old due to minimal fundus signs to aid in diagnosis. Mild pigment mottling with peripheral fleck like pigment clumping and mild temporal optic nerve pallor were found OU without any bulls-eye maculopathy or significant foveal atrophy. V. Treatment and Management a. Treatment and response to treatment i. There is no cure for Rod Cone Dystrophies. The best treatments are to update the pt’s glasses and provide low vision aids when appropriate. Dark tinted glasses may alleviate photophobia. In one case study, red tinted glasses were found to not only alleviate symptoms of photophobia, but to actually improve visual acuity to a certain extent (Young, 1982). ii. This pt has had several low vision exams in the past. She has received multiple handheld and stand magnifiers, solar shields in multiple colors, and a color identifier to aid her in her activities of daily living. iii. Current research is looking into the possibility of implanting photoreceptor precursor cells into the retina as a future treatment. The theory is if these cells are isolated and transplanted at the proper time, they can mature into healthy photoreceptors. Studies are currently underway on pts with ARMD as well as Stargardts (Pierce, 2015). VI. Conclusion a. There are many hereditary macular or retinal disorders that can present with similar findings, but through thorough evaluation with additional testing (including electrodiagnostics, color vision testing, and fluorescein angiography) the correct diagnosis can be made. VII. Bibliography a. Alexander, Larry J. "Hereditary Retinal and Choroidal Dystrophies and Degenerations." Primary Care of the Posterior Segment. 3nd ed. McGraw-Hill Companies, 2002. 613-616, 623-625, 629-630. Print. b. "Clinical Characteristics and Current Therapies for Inherited Retinal Degenerations." Retinal Disorders: Genetic Approaches to Diagnosis and Treatment. Ed. Eric A. Pierce, Richard Masland, and Joan Miller. Cold Spring Harbor Laboratory, 2015. 1-25. Print. c. Emiko, Inui, Akio Oishi, Maho Oishi, Ken Ogino, Yukiko Makiyama, Norimoto Gotoh, Masafumi Kurimoto, and Nagahisa Yoshimura. "Tomographic Comparison of Cone-rod and Rod-cone Retinal Dystrophies." Graefe's Archive for Clinical and Experimental Ophthalmology 252.7 (2014): 1065-069. Print. d. Hamel, Christian P. “Cone Rod Dystrophies.” Orphanet Journal of Rare Diseases2 (2007): 7. PMC. Web. 27 Aug. 2015. e. Holz, F.G., and R.F. Spaide. "Macular Dystrophies." Essentials In Ophthalmology Medical Retina. 1st ed. Springer, 2006. 45-46. Print. f. Kanski, Jack J., and Brad Bowling. "Hereditary Fundus Dystrophies."Clinical Ophthalmology a Systematic Approach. 7th ed. Edinburgh: Elsevier/Saunders, 2011. 656-660. Print. g. "Retina." The Wills Eye Manual: Office and Emergency Room Diagnosis and Treatment of Eye Disease. Ed. Adam T. Gerstenblith and Michael P. Rabinowitz. 6th ed. Philadelphia: Lippincott Williams & Wilkins, 2012. 345-350. Print h. Young, RS, RA Krefman, and GA Fishman. "Visual Improvements with Red-tinted Glasses in a Patient with Cone Dystrophy." Archives of Ophthalmology (1982): 268-71. Pubmed.gov. Web. 26 Aug. 2015. <http://www.ncbi.nlm.nih.gov/pubmed/6978127>.