Stephen F. Austin State University

Michelle JeffersonSPE 516Group Project323-698-3980Case Study Retinitis PigmentosaChief Complaint: A 31-year-old female patient began experiencing a gradual decrease in her visual field in the left eye (OS).History of Illness: At the age of 18 she was seen at the University of Iowa Hospitals and Clinics (UIHC) for simple myopia. Refraction at that time helped the patient attain a visual acuity of 20/15 in each eye. Examination of her Fundus revealed an area of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in the periphery of the left eye. Fundus photography was obtained of the posterior and peripheral fundus.She had routine eye examinations for the next several years at UIHC. All of the Fundus examinations in the 1970’s revealed no other abnormalities in either the macula or peripheral fundus in both eyes. From 22 to 32 years of age she continued to receive routine examinations and refraction from her optometrist, all tests were normal. Even though her tests were normal in this ten year period she began to notice a gradual decrease in the peripheral field of her left eye. In 1985 she was referred back to UIHC. UIHC Medical Report:Ocular History: Simple myopia, both eyes (OU). Small area of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in the left eye, as noted. No previous eye surgery, inflammation, or any history of eye trauma.Medical History: Unremarkable, complete review of systems did not reveal any history of inflammatory disease, prior infection, infantile illness or sexually transmitted disease.Medications: NoneFamily and Social History: No family history of acquired or inherited eye disease. No history of diabetes. An extensive review of the family pedigree revealed no other family member in four generations with any vision problems other than ammetropia that was correctable with refraction.Ocular Exam?General: well-appearing patient in no acute distress?Visual Acuity: OD-- 20/20; OS-- 20/20?Intra-ocular pressure: OD-- 16 mmHg; OS-- 16 mmHg?Motility: Orthophoric in primary gaze and full motility, OU.?External and anterior segment examination: Normal, OU.?Pupils:?Equal and briskly reactive?Positive relative afferent pupillary defect (+RAPD) OS, measuring 1.2 log units?Visual Fields: Confrontation revealed supero-temporal field defect in the left eye. Formal Goldmann visual field testing (GVF) revealed a full field in the right eye and mid-peripheral field loss in the left eye (see Figure 3).?Dilated fundus exam (DFE):?OD—Normal macula and periphery?OS—CHRPE, as noted previously, essentially unchanged. There was no foreign body, mass, or fibrosis within this congenital lesion. Also, fine granular pigment changes were present throughout the left fundus. A few small linear clumps of pigment were seen in the left mid-periphery (see Figure 4).?Electroretinogram testing revealed normal function in the right eye and nearly extinguished signal in the left eye.?Blood was taken for genetic testing and family members were invited to be examined to help investigate the possibility of an undiagnosed inherited ocular condition.Course: At this point we considered the differential diagnosis for unilateral retinal pigment epithelium changes and peripheral field loss with preserved central vision, including:?Prior trauma?Retained metallic intraocular foreign body?Prior retinal detachment?Prior vascular obstruction?Chronic uveitis?Infection or inflammation?Syphilis, Toxoplasmosis, Cytomegalovirus, Measles, Rubella, or Diffuse Unilateral Subacute Neuroretinitis (DUSN)?Neoplasm and cancer associated retinopathy (CAR)?Retinal toxicity (i.e. chloroquine, chlorpromazine)?Unilateral somatic retinitis pigmentosa?X-linked retinitis pigmentosa carrierUIHC obtained additional history and testing to refine their differential. The patient had no history or evidence of trauma nor did she have a metallic intraocular foreign body. Examination and ultrasound further confirmed the absence of any occult material at the location of this classic congenital lesion. There was no evidence of prior retinal detachment, nor the segmental pigmentation changes that would be expected from detached retina. She had never had any serious systemic infection and all immunizations were up to date. Laboratory analysis for syphilis revealed a non-reactive rapid plasma reagin (RPR). The venereal disease research laboratory (VDRL) screening test and the fluorescent treponemal antibody absorption (FTA) test were also negative. Toxoplasmosis titers showed no evidence of prior infection and her complete blood count (CBC) and electrolyte testing were normal. Her pattern in this patient was progressive throughout the entire peripheral retina over 20 years. There are documented cases of women who are X-linked RP carriers having some pigmentary changes in the fundus due to the phenomenon of X inactivation. Those cases, however, would be expected to have segmental changes throughout the fundus of both eyes. Our patient manifested diffuse RP changes covering one entire retina while the contralateral eye remained completely normal.In this case, the fundus findings, ERG results, and characteristic donut-shaped visual field loss made unilateral retinitis pigmentosa (RP) secondary to a somatic mutation a distinct possibility. It is known that most cases of suspected unilateral retinitis pigmentosa ultimately have another explanation. In order to make a reliable diagnosis of unilateral retinitis pigmentosa, it is necessary to rule out as best as possible all other explanations, confirm clinical signs of RP are truly unilateral, and follow the patient for an extended period (at least 5 years) to rule out the possibility of asymmetric inherited RP.She was examined several times in the twenty years that followed. In the left eye, the peripheral visual field continued to deteriorate leaving only a small central island of preserved visual field while the visual field in the right eye remained normal. Fundus changes continued to progress in a unilateral manner, as well. None of these changes occurred in the right eye.Her sisters and son were also examined. None showed any retinal degeneration.Unilateral retinitis pigmentosa is a very rare disease. The majority of suspected cases of unilateral retinitis pigmentosa ultimately are discovered to have another explanation (see differential diagnosis).Differential Diagnoses for Unilateral Retinitis Pigmentosa:?Prior trauma?Retained metallic intraocular foreign body?Prior retinal detachment?Prior vascular obstruction?Chronic uveitis?Infection or inflammation?Syphilis, Toxoplasmosis, Cytomegalovirus, Measles, Rubella, or Diffuse Unilateral Subacute Neuroretinitis (DUSN)?Neoplasm and cancer associated retinopathy (CAR)?Retinal toxicity (i.e. chloroquine, chlorpromazine)?X-linked retinitis pigmentosa carrierReference:Graff JM, Stone EM: Unilateral Retinitis Pigmentosa: Visual field changes in a 31-year-old female. . May 8, 2008; Available from: .

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